Book contents
- Neonatal Hematology
- Neonatal Hematology
- Copyright page
- Contents
- Foreword
- Preface
- Contributors
- Section I Developmental Hematology
- Section II Bone Marrow Failure and Immune Disorders
- Section III Erythrocyte Disorders
- Section IV Platelet Disorders
- Section V Leucocyte Disorders
- Section VI Hemostatic Disorders
- Section VII Neonatal Transfusion Medicine
- Section VIII Neonatal Oncology
- Section IX Miscellaneous
- Index
- Plate Section (PDF Only)
- References
Section II - Bone Marrow Failure and Immune Disorders
Published online by Cambridge University Press: 30 January 2021
Book contents
- Neonatal Hematology
- Neonatal Hematology
- Copyright page
- Contents
- Foreword
- Preface
- Contributors
- Section I Developmental Hematology
- Section II Bone Marrow Failure and Immune Disorders
- Section III Erythrocyte Disorders
- Section IV Platelet Disorders
- Section V Leucocyte Disorders
- Section VI Hemostatic Disorders
- Section VII Neonatal Transfusion Medicine
- Section VIII Neonatal Oncology
- Section IX Miscellaneous
- Index
- Plate Section (PDF Only)
- References
Summary
Inherited bone marrow failure syndromes (IBMFS) are a rare but important consideration in the differential diagnosis of cytopenias in childhood [1]. However, diagnosis of IBMFS in the newborn period can be challenging because many of the manifestations considered typical for a specific disorder may not yet be present, and in many cases children will not be recognized until later in life. Young children with IBMFS may have one or more cytopenias, congenital anomalies, both, or neither. A high index of suspicion for an IBMFS is required in order to establish the correct diagnosis, determine appropriate clinical management and follow up plans, and provide the family with genetic counseling. Some IBMFS predispose to leukemia or solid tumors; while the development of cancer is uncommon in the newborn period, this risk is an important determinant of subsequent follow up for the child and any affected family members.
- Type
- Chapter
- Information
- Neonatal HematologyPathogenesis, Diagnosis, and Management of Hematologic Problems, pp. 43 - 92Publisher: Cambridge University PressPrint publication year: 2021
References
References
Khincha, PP, Savage, SA. Neonatal manifestations of inherited bone marrow failure syndromes. Semin Fetal Neonatal Med 2016;21(1):57–65.CrossRefGoogle ScholarPubMed
Giri, N, Reed, HD, Stratton, P, Savage, SA, Alter, BP. Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes. Pediatr Blood Cancer 2018;65(1).CrossRefGoogle ScholarPubMed
Kutler, DI, Auerbach, AD. Fanconi anemia in Ashkenazi Jews. Fam Cancer 2004;3(3–4):241–8.Google Scholar
Vlachos, A, Klein, GW, Lipton, JM. The Diamond–Blackfan Anemia Registry: Tool for investigating the epidemiology and biology of Diamond–Blackfan anemia. J Pediatr Hematol Oncol 2001;23(6):377–82.CrossRefGoogle ScholarPubMed
Farrar, JE, Dahl, N. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. Semin Hematol 2011;48(2):124–35.Google Scholar
Vlachos, A, Rosenberg, PS, Atsidaftos, E, Alter, BP, Lipton, JM. Incidence of neoplasia in Diamond–Blackfan anemia: A report from the Diamond–Blackfan Anemia Registry. Blood 2012;119(16):3815–9.CrossRefGoogle ScholarPubMed
Vlachos, A, Rosenberg, PS, Atsidaftos, E, et al. Increased risk of colon cancer and osteogenic sarcoma in Diamond–Blackfan anemia. Blood 2018;132(20):2205–8.CrossRefGoogle ScholarPubMed
Boria, I, Garelli, E, Gazda, HT, et al. The ribosomal basis of Diamond–Blackfan anemia: Mutation and database update. Hum Mutat 2010;31(12):1269–79.Google Scholar
Dianzani, I, Loreni, F. Diamond–Blackfan anemia: A ribosomal puzzle. Haematologica 2008;93(11):1601–4.Google Scholar
Da Costa, L, Narla, A, Mohandas, N. An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia. F1000Res 2018;7.Google Scholar
Ulirsch, JC, Verboon, JM, Kazerounian, S, et al. The genetic landscape of Diamond–Blackfan anemia. Am J Hum Genet 2018;103(6):930–47.CrossRefGoogle ScholarPubMed
Sankaran, VG, Ghazvinian, R, Do, R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond–Blackfan anemia. J Clin Invest 2012;122(7):2439–43.CrossRefGoogle ScholarPubMed
Parrella, S, Aspesi, A, Quarello, P, et al. Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype. Pediatr Blood Cancer 2014;61(7):1319–21.CrossRefGoogle ScholarPubMed
Vlachos, A, Ball, S, Dahl, N, et al. Diagnosing and treating Diamond–Blackfan anaemia: Results of an international clinical consensus conference. Br J Haematol 2008;142(6):859–76.Google Scholar
Fargo, JH, Kratz, CP, Giri, N, et al. Erythrocyte adenosine deaminase: Diagnostic value for Diamond–Blackfan anaemia. Br J Haematol 2013;160(4):547–54.Google Scholar
Da Costa, L, O’Donohue, MF, van Dooijeweert, B, et al. Molecular approaches to diagnose Diamond–Blackfan anemia: The EuroDBA experience. Eur J Med Genet 2018;61(11):664–73.Google Scholar
Bartels, M, Bierings, M. How I manage children with Diamond–Blackfan anaemia. Br J Haematol 2019;184(2):123–33.CrossRefGoogle Scholar
Lahoti, A, Harris, YT, Speiser, PW, et al. Endocrine dysfunction in Diamond–Blackfan anemia (DBA): A report from the DBA Registry (DBAR). Pediatr Blood Cancer 2016;63(2):306–12.Google Scholar
Venugopal, P, Moore, S, Lawrence, DM, et al. Self-reverting mutations partially correct the blood phenotype in a Diamond–Blackfan anemia patient. Haematologica 2017;102(12):e506–e9.Google Scholar
Garelli, E, Quarello, P, Giorgio, E, et al. Spontaneous remission in a Diamond–Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. Br J Haematol 2019;185(5):994–8.Google Scholar
Jongmans, MCJ, Diets, IJ, Quarello, P, et al. Somatic reversion events point towards. Haematologica 2018;103(12):e607–e9.Google ScholarPubMed
Ben-Ami, T, Revel-Vilk, S, Brooks, R, et al. Extending the clinical phenotype of adenosine deaminase 2 deficiency. J Pediatr 2016;177:316–20.CrossRefGoogle ScholarPubMed
Hashem, H, Egler, R, Dalal, J. Refractory pure red cell aplasia manifesting as deficiency of adenosine deaminase 2. J Pediatr Hematol Oncol 2017;39(5):e293–e6.Google Scholar
Meyts, I, Aksentijevich, I. Deficiency of adenosine deaminase 2 (DADA2): Updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol 2018;38(5):569–78.Google Scholar
Pearson, HA, Lobel, JS, Kocoshis, SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95(6):976–84.Google Scholar
Rotig, A, Colonna, M, Bonnefont, JP, et al. Mitochondrial DNA deletion in Pearson’s marrow/pancreas syndrome. Lancet 1989;1(8643):902–3.Google Scholar
Rötig, A, Cormier, V, Blanche, S, et al. Pearson’s marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy. J Clin Invest 1990;86(5):1601–8.Google Scholar
Shanske, S, Tang, Y, Hirano, M, et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 2002;71(3):679–83.CrossRefGoogle Scholar
Superti-Furga, A, Schoenle, E, Tuchschmid, P, et al. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA. Eur J Pediatr 1993;152(1):44–50.CrossRefGoogle ScholarPubMed
Tadiotto, E, Maines, E, Degani, D, et al. Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. Pediatr Blood Cancer 2018;65(4): 10.1002/pbc.26939.Google Scholar
Roy, NBA, Babbs, C. The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I. Br J Haematol 2019;185(3):436–49.Google Scholar
Moreno-Carralero, MI, Horta-Herrera, S, Morado-Arias, M, et al. Clinical and genetic features of congenital dyserythropoietic anemia (CDA). Eur J Haematol 2018;101(3):368–78.Google Scholar
Heimpel, H. Congenital dyserythropoietic anemias: Epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol 2004;83(10):613–21.Google Scholar
Heimpel, H, Matuschek, A, Ahmed, M, et al. Frequency of congenital dyserythropoietic anemias in Europe. Eur J Haematol 2010;85(1):20–5.Google Scholar
Parez, N, Dommergues, M, Zupan, V, et al. Severe congenital dyserythropoietic anaemia type I: Prenatal management, transfusion support and alpha-interferon therapy. Br J Haematol 2000;110(2):420–3.Google Scholar
Kato, K, Sugitani, M, Kawataki, M, et al. Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia. J Pediatr Hematol Oncol 2001;23(1):63–6.Google Scholar
Chin, HL, Lee, LY, Koh, PL. Fetal-onset congenital dyserythropoietic anemia type 1 due to a novel mutation with severe iron overload and severe cholestatic liver disease. J Pediatr Hematol Oncol 2019;41(1):e51–e3.Google Scholar
Liu, S, Liu, YN, Zhen, L, Li, DZ. Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis. Pediatr Hematol Oncol 2018;35(7–8):447–50.Google Scholar
Shalev, H, Moser, A, Kapelushnik, J, et al. Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn. J Pediatr 2000;136(4):553–5.CrossRefGoogle ScholarPubMed
Wickramasinghe, SN. Congenital dyserythropoietic anaemias: Clinical features, haematological morphology and new biochemical data. Blood Rev 1998;12(3):178–200.Google Scholar
Dgany, O, Avidan, N, Delaunay, J, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002;71(6):1467–74.Google Scholar
Babbs, C, Roberts, NA, Sanchez-Pulido, L, et al. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 2013;98(9):1383–7.CrossRefGoogle Scholar
Heimpel, H, Schwarz, K, Ebnöther, M, et al. Congenital dyserythropoietic anemia type I (CDA I): Molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood 2006;107(1):334–40.CrossRefGoogle ScholarPubMed
Marwaha, RK, Bansal, D, Trehan, A, Garewal, G. Interferon therapy in congenital dyserythropoietic anemia type I/II. Pediatr Hematol Oncol 2005;22(2):133–8.CrossRefGoogle ScholarPubMed
Bader-Meunier, B, Leverger, G, Tchernia, G, et al. Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in a cohort of French children. J Pediatr Hematol Oncol 2005;27(8):416–9.Google Scholar
Rathe, M, Møller, MB, Greisen, PW, Fisker, N. Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a. Pediatr Blood Cancer 2018;65(3): e26866.Google Scholar
Bianchi, P, Fermo, E, Vercellati, C, et al. Diagnostic power of laboratory tests for hereditary spherocytosis: A comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica 2012;97(4):516–23.CrossRefGoogle ScholarPubMed
Iolascon, A, Heimpel, H, Wahlin, A, Tamary, H. Congenital dyserythropoietic anemias: Molecular insights and diagnostic approach. Blood 2013;122(13):2162–6.Google Scholar
Ayas, M, al-Jefri, A, Baothman, A, et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. Bone Marrow Transplant 2002;29(8):681–2.Google Scholar
Donadieu, J, Fenneteau, O, Beaupain, B, Mahlaoui, N, Chantelot, CB. Congenital neutropenia: Diagnosis, molecular bases and patient management. Orphanet J Rare Dis 2011;6:26.Google Scholar
Rosenberg, PS, Zeidler, C, Bolyard, AA, et al. Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. Br J Haematol 2010;150(2):196–9.Google Scholar
Xia, J, Bolyard, AA, Rodger, E, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 2009;147(4):535–42.Google Scholar
Donadieu, J, Leblanc, T, Bader Meunier, B, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia: Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 2005;90(1):45–53.Google ScholarPubMed
Nanua, S, Murakami, M, Xia, J, et al. Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane. Blood 2011;117(13):3539–47.Google Scholar
Nayak, RC, Trump, LR, Aronow, BJ, et al. Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cells. J Clin Invest 2015;125(8):3103–16.Google Scholar
Nasri, M, Ritter, M, Mir, P, et al. CRISPR/Cas9 mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients. Haematologica 2020;105(3):598–609.Google Scholar
Donadieu, J, Beaupain, B, Fenneteau, O, Bellanné-Chantelot, C. Congenital neutropenia in the era of genomics: Classification, diagnosis, and natural history. Br J Haematol 2017;179(4):557–74.Google Scholar
Yılmaz Karapınar, D, Patıroğlu, T, Metin, A, et al. Homozygous c.130–1 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry. Pediatr Blood Cancer 2019;66(10):e27923.Google Scholar
Dale, DC, Bolyard, AA, Schwinzer, BG, et al. The Severe Chronic Neutropenia International Registry: 10-year follow-up report. Support Cancer Ther 2006;3(4):220–31.Google Scholar
Touw, IP. Game of clones: The genomic evolution of severe congenital neutropenia. Hematology Am Soc Hematol Educ Program 2015;2015:1–7.Google Scholar
Fioredda, F, Iacobelli, S, van Biezen, A, et al. Stem cell transplantation in severe congenital neutropenia: An analysis from the European Society for Blood and Marrow Transplantation. Blood 2015;126(16):1885–92; quiz 970.Google Scholar
Ginzberg, H, Shin, J, Ellis, L, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135(1):81–8.Google Scholar
Goobie, S, Popovic, M, Morrison, J, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 2001;68(4):1048–54.Google Scholar
Myers, KC, Bolyard, AA, Otto, B, et al. Variable clinical presentation of Shwachman–Diamond syndrome: update from the North American Shwachman–Diamond Syndrome Registry. J Pediatr 2014;164(4):866–70.Google Scholar
Boocock, GR, Morrison, JA, Popovic, M, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003;33(1):97–101.Google Scholar
Finch, AJ, Hilcenko, C, Basse, N, et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev 2011;25(9):917–29.Google Scholar
Carapito, R, Konantz, M, Paillard, C, et al. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman–Diamond-like features. J Clin Invest 2017;127(11):4090–103.Google Scholar
Dhanraj, S, Matveev, A, Li, H, et al. Biallelic mutations in DNAJC21 cause Shwachman–Diamond syndrome. Blood 2017;129(11):1557–62.Google Scholar
Tan, S, Kermasson, L, Hoslin, A, et al. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome. Blood 2019;134(3):277–90.Google Scholar
Dror, Y, Donadieu, J, Koglmeier, J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman–Diamond syndrome. Ann N Y Acad Sci 2011;1242:40–55.Google Scholar
Keogh, SJ, McKee, S, Smithson, SF, Grier, D, Steward, CG. Shwachman–Diamond syndrome: A complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome). BMC Pediatr 2012;12:48.Google Scholar
Rosenberg, PS, Alter, BP, Bolyard, AA, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006;107(12):4628–35.Google Scholar
Link, DC. Mechanisms of leukemic transformation in congenital neutropenia. Curr Opin Hematol 2019;26(1):34–40.Google Scholar
Toiviainen-Salo, S, Pitkänen, O, Holmström, M, et al. Myocardial function in patients with Shwachman–Diamond syndrome: Aspects to consider before stem cell transplantation. Pediatr Blood Cancer 2008;51(4):461–7.Google Scholar
Chandler, KE, Kidd, A, Al-Gazali, L, et al. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 2003;40(4):233–41.Google Scholar
Kishnani, PS, Austin, SL, Abdenur, JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 2014;16(11):e1.Google Scholar
Bachelerie, F. CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome. Dis Markers 2010;29(3–4):189–98.Google Scholar
Kawai, T, Malech, HL. WHIM syndrome: Congenital immune deficiency disease. Curr Opin Hematol 2009;16(1):20–6.CrossRefGoogle ScholarPubMed
McDermott, DH, Pastrana, DV, Calvo, KR, et al. Plerixafor for the treatment of WHIM syndrome. N Engl J Med 2019;380(2):163–70.Google Scholar
Mamrak, NE, Shimamura, A, Howlett, NG. Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. Blood Rev 2017;31(3):93–9.Google Scholar
Fiesco-Roa, MO, Giri, N, McReynolds, LJ, Best, AF, Alter, BP. Genotype-phenotype associations in Fanconi anemia: A literature review. Blood Rev 2019;37:100589.Google Scholar
Alter, BP, Giri, N. Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. Am J Med Genet A 2016;170(6):1520–4.Google Scholar
Petryk, A, Kanakatti Shankar, R, Giri, N, et al. Endocrine disorders in Fanconi anemia: Recommendations for screening and treatment. J Clin Endocrinol Metab 2015;100(3):803–11.Google Scholar
Kutler, DI, Singh, B, Satagopan, J, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003;101(4):1249–56.Google Scholar
Brosh, RM, Bellani, M, Liu, Y, Seidman, MM. Fanconi anemia: A DNA repair disorder characterized by accelerated decline of the hematopoietic stem cell compartment and other features of aging. Ageing Res Rev 2017;33:67–75.Google Scholar
Rosenberg, PS, Alter, BP, Ebell, W. Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia Registry. Haematologica 2008;93(4):511–7.Google Scholar
Alter, BP, Giri, N, Savage, SA, Rosenberg, PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica 2018;103(1):30–9.Google Scholar
Alter, BP, Rosenberg, PS, Brody, LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 2007;44(1):1–9.Google Scholar
Reid, S, Schindler, D, Hanenberg, H, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007;39(2):162–4.Google Scholar
Gueiderikh, A, Rosselli, F, Neto, JBC. A never-ending story: The steadily growing family of the FA and FA-like genes. Genet Mol Biol 2017;40(2):398–407.Google Scholar
Lo Ten Foe, JR, Kwee, ML, Rooimans, MA, et al. Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance. Eur J Hum Genet 1997;5(3):137–48.Google Scholar
Gross, M, Hanenberg, H, Lobitz, S, et al. Reverse mosaicism in Fanconi anemia: Natural gene therapy via molecular self-correction. Cytogenet Genome Res 2002;98(2–3):126–35.Google Scholar
Hira, A, Yabe, H, Yoshida, K, et al. Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood 2013;122(18):3206–9.CrossRefGoogle ScholarPubMed
Ebens, CL, MacMillan, ML, Wagner, JE. Hematopoietic cell transplantation in Fanconi anemia: Current evidence, challenges and recommendations. Expert Rev Hematol 2017;10(1):81–97.Google Scholar
Dufour, C. How I manage patients with Fanconi anaemia. Br J Haematol 2017;178(1):32–47.Google Scholar
Calado, RT, Clé, DV. Treatment of inherited bone marrow failure syndromes beyond transplantation. Hematology Am Soc Hematol Educ Program 2017;2017(1):96–101.Google Scholar
Paustian, L, Chao, MM, Hanenberg, H, et al. Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany. Pediatr Hematol Oncol 2016;33(1):5–12.Google Scholar
Río, P, Navarro, S, Wang, W, et al. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med 2019;25(9):1396–401.Google Scholar
Glousker, G, Touzot, F, Revy, P, Tzfati, Y, Savage, SA. Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol 2015;170(4):457–71.Google Scholar
Hoyeraal, HM, Lamvik, J, Moe, PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970;59(2):185–91.Google Scholar
Knight, SW, Heiss, NS, Vulliamy, TJ, et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal–Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999;107(2):335–9.Google Scholar
Revesz, T, Fletcher, S, al-Gazali, LI, DeBuse, P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: A new syndrome? J Med Genet 1992;29(9):673–5.Google Scholar
Niewisch, MR, Savage, SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 2019;12(12):1037–52.CrossRefGoogle ScholarPubMed
Vulliamy, TJ, Marrone, A, Knight, SW, et al. Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation. Blood 2006;107(7):2680–5.Google Scholar
Alter, BP, Giri, N, Savage, SA, Rosenberg, PS. Telomere length in inherited bone marrow failure syndromes. Haematologica 2015;100(1):49–54.Google Scholar
Alter, BP, Giri, N, Savage, SA, Rosenberg, PS. Cancer in dyskeratosis congenita. Blood 2009;113(26):6549–57.Google Scholar
Islam, A, Rafiq, S, Kirwan, M, et al. Haematological recovery in dyskeratosis congenita patients treated with danazol. Br J Haematol 2013;162(6):854–6.Google Scholar
Khincha, PP, Wentzensen, IM, Giri, N, Alter, BP, Savage, SA. Response to androgen therapy in patients with dyskeratosis congenita. Br J Haematol 2014;165(3):349–57.Google Scholar
References
PrabhuDas, M, Adkins, B, Gans, H, et al. Challenges in infant immunity: Implications for responses to infection and vaccines. Nat Immunol 2011;12(3):189–94.Google Scholar
Yoshio, H, Lagercrantz, H, Gudmundsson, GH, Agerberth, B. First line of defense in early human life. Semin Perinatol 2004;28(4):304–11.Google Scholar
Martin, CR, Walker, WA. Probiotics: Role in pathophysiology and prevention in necrotizing enterocolitis. Semin Perinatol 2008;32(2):127–37.Google Scholar
Rakoff-Nahoum, S, Paglino, J, Eslami-Varzaneh, F, Edberg, S, Medzhitov, R. Recognition of commensal microflora by toll-like receptors is required for intestinal homeostasis. Cell 2004;118(2):229–41.Google Scholar
Wynn, JL, Scumpia, PO, Winfield, RD, et al. Defective innate immunity predisposes murine neonates to poor sepsis outcome but is reversed by TLR agonists. Blood 2008;112(5):1750–8.Google Scholar
Lewis, DB, Wilson, CB. Developmental immunology and role of host defenses in fetal and neonatal susceptibility to infection. In Remington, JS, Klein, JO, Wilson, CB, Baker, CJ, eds. Infectious Diseases of the Fetus and Newborn Infant, 6th ed. (Philadelphia, PA: Elsevier Saunders, 2006), pp. 87–210.Google Scholar
Wright, JR. Host defense functions of pulmonary surfactant. Biol Neonate 2004;85(4):326–32.Google Scholar
Engle, WA. Surfactant-replacement therapy for respiratory distress in the preterm and term neonate. Pediatrics 2008;121(2):419–32.Google Scholar
Pfister, RH, Soll, RF. New synthetic surfactants: The next generation? Biol Neonate 2005;87(4):338–44.Google Scholar
Kawai, T, Akira, S. The roles of TLRs, RLRs and NLRs in pathogen recognition. Int Immunol 2009;21(4):317–37.Google Scholar
Takeuchi, O, Akira, S. Pattern recognition receptors and inflammation. Cell 2010;140(6):805–20.Google Scholar
Kumagai, Y, Takeuchi, O, Akira, S. Pathogen recognition by innate receptors. J Infect Chemother 2008;14(2):86–92.Google Scholar
Trinchieri, G, Sher, A. Cooperation of toll-like receptor signals in innate immune defence. Nat Rev Immunol 2007;7(3):179–90.Google Scholar
Krumbiegel, D, Zepp, F, Meyer, CU. Combined toll-like receptor agonists synergistically increase production of inflammatory cytokines in human neonatal dendritic cells. Hum Immunol 2007;68(10):813–22.Google Scholar
Hotchkiss, RS, Karl, IE. The pathophysiology and treatment of sepsis. N Engl J Med 2003;348(2):138–50.Google Scholar
Levy, O, Zarember, KA, Roy, RM, et al. Selective impairment of TLR-mediated innate immunity in human newborns: Neonatal blood plasma reduces monocyte TNF-alpha induction by bacterial lipopeptides, lipopolysaccharide, and imiquimod, but preserves the response to R-848. J Immunol 2004;173(7):4627–34.Google Scholar
Ng, PC, Li, K, Wong, RP, et al. Proinflammatory and anti-inflammatory cytokine responses in preterm infants with systemic infections. Arch Dis Child Fetal Neonatal Ed 2003;88(3):F209nousinfusionover2to4hours-13.Google Scholar
Sadeghi, K, Berger, A, Langgartner, M, et al. Immaturity of infection control in preterm and term newborns is associated with impaired toll-like receptor signaling. J Infect Dis 2007;195(2):296–302.Google Scholar
Wen, H, Miao, EA, Ting, JP. Mechanisms of NOD-like receptor-associated inflammasome activation. Immunity 2013;39(3):432–41.Google Scholar
Aksentijevich, I, Nowak, M, Mallah, M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 2002;46(12):3340–8.Google Scholar
Rechavi, E, Lev, A, Lee, YN, et al. Timely and spatially regulated maturation of B and T cell repertoire during human fetal development. Sci Transl Med 2015;7(276):276ra25.Google Scholar
Schroeder, HW, Jr., Zhang, L, Philips, JB, 3rd. Slow, programmed maturation of the immunoglobulin HCDR3 repertoire during the third trimester of fetal life. Blood 2001;98(9):2745–51.CrossRefGoogle ScholarPubMed
Zinkernagel, RM. Maternal antibodies, childhood infections, and autoimmune diseases. N Engl J Med 2001;345(18):1331–5.CrossRefGoogle ScholarPubMed
Rechavi, E, Somech, R. Survival of the fetus: Fetal B and T cell receptor repertoire development. Semin Immunopathol 2017;39(6):577–83.Google Scholar
Perfetto, SP, Chattopadhyay, PK, Roederer, M. Seventeen-colour flow cytometry: Unravelling the immune system. Nat Rev Immunol 2004;4(8):648–55.Google Scholar
Shearer, WT, Rosenblatt, HM, Gelman, RS, et al. Lymphocyte subsets in healthy children from birth through 18 years of age: The Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol 2003;112(5):973–80.Google Scholar
Martin, VG, Wu, YB, Townsend, CL, et al. Transitional B cells in early human B cell development: Time to revisit the paradigm? Front Immunol 2016;7:546.Google Scholar
Zhou, ZH, Zhang, Y, Hu, YF, et al. The broad antibacterial activity of the natural antibody repertoire is due to polyreactive antibodies. Cell Host Microbe 2007;1(1):51–61.Google Scholar
Siegrist, CA, Aspinall, R. B-cell responses to vaccination at the extremes of age. Nat Rev Immunol 2009;9(3):185–94.Google Scholar
van Zelm, MC, Szczepanski, T, van der Burg, M, van Dongen, JJ. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med 2007;204(3):645–55.Google Scholar
Nonoyama, S, Penix, LA, Edwards, CP, et al. Diminished expression of CD40 ligand by activated neonatal T cells. J Clin Invest 1995;95(1):66–75.Google Scholar
Wilcox, CR, Holder, B, Jones, CE. Factors affecting the FcRn-mediated transplacental transfer of antibodies and implications for vaccination in pregnancy. Front Immunol 2017;8:1294.Google Scholar
Ballow, M, Cates, KL, Rowe, JC, Goetz, C, Desbonnet, C. Development of the immune system in very low birth weight (less than 1500 g) premature infants: Concentrations of plasma immunoglobulins and patterns of infections. Pediatr Res 1986;20(9):899–904.Google Scholar
Bousfiha, A, Jeddane, L, Picard, C, et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol 2018;38(1):129–43.Google Scholar
Cotten, CM, Taylor, S, Stoll, B, et al. Prolonged duration of initial empirical antibiotic treatment is associated with increased rates of necrotizing enterocolitis and death for extremely low birth weight infants. Pediatrics 2009;123(1):58–66.Google Scholar
Stoll, BJ, Hansen, N. Infections in VLBW infants: Studies from the NICHD Neonatal Research Network. Semin Perinatol 2003;27(4):293–301.Google Scholar
Buckley, RH. Primary cellular immunodeficiencies. J Allergy Clin Immunol 2002;109(5):747–57.Google Scholar
Kwan, A, Church, JA, Cowan, MJ, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years. J Allergy Clin Immunol 2013;132(1):140–50.Google Scholar
Roifman, CM. Hematopoietic stem cell transplantation for profound T-cell deficiency (combined immunodeficiency). Immunol Allergy Clin North Am 2010;30(2):209–19.Google Scholar
Roberts, JL, Lauritsen, JP, Cooney, M, et al. T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. Blood 2007;109(8):3198–206.Google Scholar
Notarangelo, LD. Primary immunodeficiencies. J Allergy Clin Immunol 2010;125(2 Suppl 2):S182–94.CrossRefGoogle ScholarPubMed
Sleasman, JW, Harville, TO, White, GB, et al. Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease. J Immunol 1994;153(1):442–8.Google Scholar
Routes, J, Abinun, M, Al-Herz, W, et al. ICON: The early diagnosis of congenital immunodeficiencies. J Clin Immunol 2014;34(4):398–424.Google Scholar
Hershfield, MS. Adenosine deaminase deficiency: Clinical expression, molecular basis, and therapy. Semin Hematol 1998;35(4):291–8.Google Scholar
Hershfield, MS. PEG-ADA replacement therapy for adenosine deaminase deficiency: An update after 8.5 years. Clin Immunol Immunopathol 1995;76(3 Pt 2):S228–32.CrossRefGoogle ScholarPubMed
Hershfield, MS. PEG-ADA: An alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat 1995;5(2):107–12.Google Scholar
Hershfield, MS, Buckley, RH, Greenberg, ML, et al. Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med 1987;316(10):589–96.Google Scholar
Aiuti, A, Roncarolo, MG, Naldini, L. Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: Paving the road for the next generation of advanced therapy medicinal products. EMBO Mol Med 2017;9(6):737–40.Google Scholar
Finan, PM, Soames, CJ, Wilson, L, et al. Identification of regions of the Wiskott–Aldrich syndrome protein responsible for association with selected Src homology 3 domains. J Biol Chem 1996;271(42):26291–5.Google Scholar
Schindelhauer, D, Weiss, M, Hellebrand, H, et al. Wiskott–Aldrich syndrome: No strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum Genet 1996;98(1):68–76.Google Scholar
Schwartz, M, Bekassy, A, Donner, M, et al. Mutation spectrum in patients with Wiskott–Aldrich syndrome and X-linked thrombocytopenia: Identification of twelve different mutations in the WASP gene. Thromb Haemost 1996;75(4):546–50.Google Scholar
Schwarz, K. WASPbase: A database of WAS- and XLT-causing mutations. Immunol Today 1996;17(11):496–502.Google Scholar
Thrasher, AJ. WASp in immune-system organization and function. Nat Rev Immunol 2002;2(9):635–46.Google Scholar
Park, JY, Kob, M, Prodeus, AP, et al. Early deficit of lymphocytes in Wiskott–Aldrich syndrome: Possible role of WASP in human lymphocyte maturation. Clin Exp Immunol 2004;136(1):104–10.Google Scholar
Sullivan, KE. Recent advances in our understanding of Wiskott–Aldrich syndrome. Curr Opin Hematol 1999;6(1):8–14.Google Scholar
Ochs, HD, Thrasher, AJ. The Wiskott–Aldrich syndrome. J Allergy Clin Immunol 2006;117(4):725–38; quiz 39.Google Scholar
Buckley, RH. Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med 2000;343(18):1313–24.Google Scholar
Gatti, RA, Berkel, I, Boder, E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22–23. Nature 1988;336(6199):577–80.Google Scholar
van Os, NJH, Jansen, AFM, van Deuren, M, et al. Ataxia-telangiectasia: Immunodeficiency and survival. Clin Immunol 2017;178:45–55.Google Scholar
Chopra, C, Davies, G, Taylor, M, et al. Immune deficiency in ataxia-telangiectasia: A longitudinal study of 44 patients. Clin Exp Immunol 2014;176(2):275–82.Google Scholar
Kraus, M, Lev, A, Simon, AJ, et al. Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. J Clin Immunol 2014;34(5):561–72.Google Scholar
Kobrynski, LJ, Sullivan, KE. Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet 2007;370(9596):1443–52.CrossRefGoogle ScholarPubMed
Devriendt, K, Fryns, JP, Mortier, G, van Thienen, MN, Keymolen, K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998;35(9):789–90.Google Scholar
Goodship, J, Cross, I, LiLing, J, Wren, C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child 1998;79(4):348–51.Google Scholar
Lindstrand, A, Malmgren, H, Verri, A, et al. Molecular and clinical characterization of patients with overlapping 10p deletions. Am J Med Genet A 2010;152A(5):1233–43.Google Scholar
Sullivan, KE. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome. Immunol Allergy Clin North Am 2008;28(2):353–66.Google Scholar
Yagi, H, Furutani, Y, Hamada, H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003;362(9393):1366–73.Google Scholar
Stoller, JZ, Epstein, JA. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet 2005;14(7):885–92.CrossRefGoogle ScholarPubMed
Jawad, AF, McDonald-Mcginn, DM, Zackai, E, Sullivan, KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).J Pediatr 2001;139(5):715–23.Google Scholar
Jyonouchi, S, McDonald-McGinn, DM, Bale, S, Zackai, EH, Sullivan, KE. CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: A comparison of immunologic and nonimmunologic phenotypic features. Pediatrics 2009;123(5):e871–7.Google Scholar
de Geus, CM, Free, RH, Verbist, BM, et al. Guidelines in CHARGE syndrome and the missing link: Cranial imaging. Am J Med Genet C Semin Med Genet 2017;175(4):450–64.Google Scholar
Hale, CL, Niederriter, AN, Green, GE, Martin, DM. Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet A 2016;170A(2):344–54.Google Scholar
Junker, AK, Driscoll, DA. Humoral immunity in DiGeorge syndrome. J Pediatr 1995;127(2):231–7.Google Scholar
Markert, ML, Devlin, BH, Chinn, IK, McCarthy, EA. Thymus transplantation in complete DiGeorge anomaly. Immunol Res 2009;44(1–3):61–70.Google Scholar
Kostjukovits, S, Klemetti, P, Valta, H, et al. Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia. J Allergy Clin Immunol 2017;140(2):612–4 e5.Google Scholar
Chavanas, S, Bodemer, C, Rochat, A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000;25(2):141–2.Google Scholar
Hovnanian, A. Netherton syndrome: Skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res 2013;351(2):289–300.Google Scholar
Netherton, EW. A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm 1958;78(4):483–7.Google Scholar
Giri, N, Lee, R, Faro, A, et al. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case report and systematic literature review. BMC Blood Disord 2011;11:3.Google Scholar
Jyonouchi, S, Forbes, L, Ruchelli, E, Sullivan, KE. Dyskeratosis congenita: A combined immunodeficiency with broad clinical spectrum–a single-center pediatric experience. Pediatr Allergy Immunol 2011;22(3):313–9.Google Scholar
Fusco, F, Pescatore, A, Conte, MI, et al. EDA-ID and IP, two faces of the same coin: How the same IKBKG/NEMO mutation affecting the NF-kappaB pathway can cause immunodeficiency and/or inflammation. Int Rev Immunol 2015;34(6):445–59.Google Scholar
Puel, A, Picard, C, Ku, C-L, Smahi, A, Casanova, J-L. Inherited disorders of NF-κB-mediated immunity in man. Curr Opin Immunol 2004;16(1):34–41.Google Scholar
Miot, C, Imai, K, Imai, C, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood 2017;130(12):1456–67.Google Scholar
Tiller, TL, Jr., Buckley, RH. Transient hypogammaglobulinemia of infancy: Review of the literature, clinical and immunologic features of 11 new cases, and long-term follow-up. J Pediatr 1978;92(3):347–53.Google Scholar
McGeady, SJ. Transient hypogammaglobulinemia of infancy: Need to reconsider name and definition. J Pediatr 1987;110(1):47–50.Google Scholar
Dressler, F, Peter, HH, Muller, W, Rieger, CH. Transient hypogammaglobulinemia of infancy: Five new cases, review of the literature and redefinition. Acta Paediatr Scand 1989;78(5):767–74.Google Scholar
Fanaroff, AA, Korones, SB, Wright, LL, et al. A controlled trial of intravenous immune globulin to reduce nosocomial infections in very-low-birth-weight infants. National Institute of Child Health and Human Development Neonatal Research Network. N Engl J Med 1994;330(16):1107–13.Google Scholar
Sandberg, K, Fasth, A, Berger, A, et al. Preterm infants with low immunoglobulin G levels have increased risk of neonatal sepsis but do not benefit from prophylactic immunoglobulin G. J Pediatr 2000;137(5):623–8.Google Scholar
Geha, RS. Antibody deficiency syndromes and novel immunodeficiencies. Pediatr Infect Dis J 1988;7(5 Suppl):S57–60.Google Scholar
Vetrie, D, Vorechovsky, I, Sideras, P, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993;361(6409):226–33.Google Scholar
Cunningham-Rundles, C, Ponda, PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol 2005;5(11):880–92.Google Scholar
Ochs, HD, Smith, CI. X-linked agammaglobulinemia: A clinical and molecular analysis. Medicine 1996;75(6):287–99.Google Scholar
Conley, ME, Dobbs, AK, Farmer, DM, et al. Primary B cell immunodeficiencies: Comparisons and contrasts. Annu Rev Immunol 2009;27:199–227.Google Scholar
Levy, J, Espanol-Boren, T, Thomas, C, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997;131(1 Pt 1):47–54.Google Scholar
Padayachee, M, Feighery, C, Finn, A, et al. Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics 1992;14(2):551–3.Google Scholar
Schwaber, J, Rosen, FS. X chromosome linked immunodeficiency. Immunodefic Rev 1990;2(3):233–51.Google Scholar
Crank, MC, Grossman, JK, Moir, S, et al. Mutations in PIK3 CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol 2014;34(3):272–6.Google Scholar
Petrovski, S, Parrott, RE, Roberts, JL, et al. Dominant splice site mutations in PIK3R1 cause hyper IgM syndrome, lymphadenopathy and short stature. J Clin Immunol 2016;36(5):462–71.Google Scholar
Wang, WC, Cordoba, J, Infante, AJ, Conley, ME. Successful treatment of neutropenia in the hyper-immunoglobulin M syndrome with granulocyte colony-stimulating factor. Am J Pediatr Hematol Oncol 1994;16(2):160–3.Google Scholar
de la Morena, MT, Leonard, D, Torgerson, TR, et al. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol 2017;139(4):1282–92.Google Scholar
Lorini, R, Ugazio, AG, Cammareri, V, et al. Immunoglobulin levels, T-cell markers, mitogen responsiveness and thymic hormone activity in Turner’s syndrome. Thymus 1983;5(2):61–6.Google Scholar
Maraschio, P, Zuffardi, O, Dalla Fior, T, Tiepolo, L. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: The ICF syndrome. J Med Genet 1988;25(3):173–80.Google Scholar
Wijmenga, C, van den Heuvel, LP, Strengman, E, et al. Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. Am J Hum Genet 1998;63(3):803–9.Google Scholar
Grimbacher, B, Schaffer, AA, Peter, HH. The genetics of hypogammaglobulinemia. Curr Allergy Asthma Rep 2004;4(5):349–58.Google Scholar
Price, VE, Dutta, S, Blanchette, VS, et al. The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: Practice considerations at the Hospital for Sick Children, Toronto. Pediatr Blood Cancer 2006;46(5):597–603.Google Scholar
Schaffer, FM, Newton, JA. Intravenous gamma globulin administration to common variable immunodeficient women during pregnancy: Case report and review of the literature. J Perinatol 1994;14(2):114–7.Google Scholar
Verbsky, JW, Grossman, WJ. Hemophagocytic lymphohistiocytosis: Diagnosis, pathophysiology, treatment, and future perspectives. Ann Med 2006;38(1):20–31.Google Scholar
Ishii, E. Hemophagocytic lymphohistiocytosis in children: Pathogenesis and treatment. Front Pediatr 2016;4:47.Google Scholar
Esteban, YM, de Jong JLO, Tesher, MS. An overview of hemophagocytic lymphohistiocytosis. Pediatr Ann 2017;46(8):e309–e13.Google Scholar
Mehta, RS, Smith, RE. Hemophagocytic lymphohistiocytosis (HLH): A review of literature. Med Oncol 2013;30(4):740.Google Scholar
Trottestam, H, Horne, A, Arico, M, et al. Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: Long-term results of the HLH-94 treatment protocol. Blood 2011;118(17):4577–84.Google Scholar
Ward, DM, Shiflett, SL, Kaplan, J. Chediak–Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2002;2(5):469–77.Google Scholar
Kaplan, J, De Domenico, I, Ward, DM. Chediak–Higashi syndrome. Curr Opin Hematol 2008;15(1):22–9.Google Scholar
Eapen, M, DeLaat, CA, Baker, KS, et al. Hematopoietic cell transplantation for Chediak–Higashi syndrome. Bone Marrow Transpl 2007;39(7):411–15.Google Scholar
Menasche, G, Pastural, E, Feldmann, J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet 2000;25(2):173–6.Google Scholar
Masri, A, Bakri, FG, Al-Hussaini, M, et al. Griscelli syndrome type 2: A rare and lethal disorder. J Child Neurol 2008;23(8):964–7.Google Scholar
Rigaud, S, Fondaneche, MC, Lambert, N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006;444(7115):110–4.Google Scholar
Marsh, RA, Madden, L, Kitchen, BJ, et al. XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 2010;116(7):1079–82.Google Scholar
Horn, PC, Belohradsky, BH, Urban, C, et al. Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases. J Allergy Clin Immunol 2011;127(2):544–6.Google Scholar
Powell, BR, Buist, NR, Stenzel, P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982;100(5):731–7.Google Scholar
Gambineri, E, Perroni, L, Passerini, L, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 2008;122(6):1105–12.e1.Google Scholar
Louie, RJ, Tan, QK, Gilner, JB, et al. Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. Am J Med Genet A 2017;173(5):1219–25.Google Scholar
Bennett, CL, Brunkow, ME, Ramsdell, F, et al. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA–>AAUGAA) leads to the IPEX syndrome. Immunogenetics 2001;53(6):435–9.CrossRefGoogle Scholar
Bennett, CL, Christie, J, Ramsdell, F, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 2001;27(1):20–1.Google Scholar
Mills, KH. Regulatory T cells: Friend or foe in immunity to infection? Nat Rev Immunol 2004;4(11):841–55.Google Scholar
Bacchetta, R, Passerini, L, Gambineri, E, et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 2006;116(6):1713–22.Google Scholar
Torgerson, TR, Ochs, HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol 2007;120(4):744–50; quiz 51–2.Google Scholar
Halabi-Tawil, M, Ruemmele, FM, Fraitag, S, et al. Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Br J Dermatol 2009;160(3):645–51.Google Scholar
Tan, QK, Louie, RJ, Sleasman, J. IPEX Syndrome. In Adam, MP, Ardinger, HH, Pagon, RA, et al., eds. GeneReviews® [Internet] (Seattle, WA: University of Washington, 2004/2018). Available online at www.ncbi.nlm.nih.gov/books/NBK1118/.Google Scholar
Cabanillas, D, Regairaz, L, Deswarte, C, et al. Leukocyte adhesion deficiency Type 1 (LAD1) with expressed but nonfunctional CD11/CD18. J Clin Immunol 2016;36(7):627–30.Google Scholar
Holland, SM. Chronic granulomatous disease. Hematol Oncol Clin North Am 2013;27(1):89–99, viii.Google Scholar
van de Geer, A, Nieto-Patlan, A, Kuhns, DB, et al. Inherited p40phox deficiency differs from classic chronic granulomatous disease. J Clin Invest 2018;128(9):3957–75.Google Scholar
Margolis, DM, Melnick, DA, Alling, DW, Gallin, JI. Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 1990;162(3):723–6.Google Scholar
Gallin, JI, Alling, DW, Malech, HL, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med 2003;348(24):2416–22.Google Scholar
A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. The International Chronic Granulomatous Disease Cooperative Study Group. N Engl J Med 1991;324(8):509–16.Google Scholar
Chin, TW, Stiehm, ER, Falloon, J, Gallin, JI. Corticosteroids in treatment of obstructive lesions of chronic granulomatous disease. J Pediatr 1987;111(3):349–52.Google Scholar
Güngör, T, Teira, P, Slatter, M, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: A prospective multicentre study. Lancet 2014;383(9915):436–48.Google Scholar
Pisegna, S, Pirozzi, G, Piccoli, M, et al. p38 MAPK activation controls the TLR3-mediated up-regulation of cytotoxicity and cytokine production in human NK cells. Blood 2004;104(13):4157–64.Google Scholar
Schroder, M, Bowie, AG. TLR3 in antiviral immunity: Key player or bystander? Trends Immunol 2005;26(9):462–8.Google Scholar
Zhang, SY, Jouanguy, E, Ugolini, S, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007;317(5844):1522–7.Google Scholar
Lim, HK, Seppanen, M, Hautala, T, et al. TLR3 deficiency in herpes simplex encephalitis: High allelic heterogeneity and recurrence risk. Neurology 2014;83(21):1888–97.Google Scholar
Aksentijevich, I, Putnam, CD, Remmers, EF, et al. The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 2007;56(4):1273–85.Google Scholar
Baroja-Mazo, A, Martin-Sanchez, F, Gomez, AI, et al. The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. Nat Immunol 2014;15(8):738–48.Google Scholar
Hull, KM, Shoham, N, Chae, JJ, Aksentijevich, I, Kastner, DL. The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations. Curr Opin Rheumatol 2003;15(1):61–9.Google Scholar
Ahmadi, N, Brewer, CC, Zalewski, C, et al. Cryopyrin-associated periodic syndromes: Otolaryngologic and audiologic manifestations. Otolaryngol Head Neck Surg 2011;145(2):295–302.Google Scholar
Goldbach-Mansky, R, Dailey, NJ, Canna, SW, et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 2006;355(6):581–92.Google Scholar
Berger, M. Complement deficiency and neutrophil dysfunction as risk factors for bacterial infection in newborns and the role of granulocyte transfusion in therapy. Rev Infect Dis 1990;12 Suppl 4:S401–9.CrossRefGoogle ScholarPubMed
Dzwonek, AB, Neth, OW, Thiebaut, R, et al. The role of mannose-binding lectin in susceptibility to infection in preterm neonates. Pediatr Res 2008;63(6):680–5.Google Scholar
UNAIDS. Global report: UNAIDS report on the global AIDS epidemic. Available online at https://www.unaids.org/en/resources/publications/allGoogle Scholar
Mofenson, LM. Mother–child HIV-1 transmission: Timing and determinants. Obstet Gynecol Clin North Am. 1997;24(4):759–84.Google Scholar
Shearer, WT, Quinn, TC, LaRussa, P, et al. Viral load and disease progression in infants infected with human immunodeficiency virus type 1. Women and Infants Transmission Study Group. N Engl J Med 1997;336(19):1337–42.Google Scholar
Havens, PL, Mofenson, LM. Evaluation and management of the infant exposed to HIV-1 in the United States. Pediatrics 2009;123(1):175–87.Google Scholar
1993 revised classification system for HIV infection and expanded surveillance case definition for AIDS among adolescents and adults. MMWR Recomm Rep 1992;41(Rr-17):1–19.Google Scholar
Panel on Antiretroviral Therapy and Medical Management of Children Living with HIV. Recommendations for the Use of Antiretroviral Drugs in Pregnant Women with HIV Infection and Interventions to Reduce Perinatal HIV Transmission in the United States. 2020. Available online at https://clinicalinfo.hiv.gov/guidelines/perinatal/introductionGoogle Scholar
Bonilla, FA, Bernstein, IL, Khan, DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005;94(5 Suppl 1):S1–63.Google Scholar
Boyle, JM, Buckley, RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007;27(5):497–502.Google Scholar
Chase, NM, Verbsky, JW, Routes, JM. Newborn screening for T-cell deficiency. Curr Opin Allergy Clin Immunol 2010;10(6):521–5.Google Scholar
Baker, MW, Grossman, WJ, Laessig, RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J Allergy Clin Immunol 2009;124(3):522–7.Google Scholar
Kwan, A, Abraham, RS, Currier, R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014;312(7):729–38.Google Scholar
Pai, SY, Logan, BR, Griffith, LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med 2014;371(5):434–46.Google Scholar
Brown, M, Wittwer, C. Flow cytometry: Principles and clinical applications in hematology. Clin Chem 2000; 46(8 Pt 2):1221–9.Google Scholar
Shearer, WT, Dunn, E, Notarangelo, LD, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol 2014;133(4):1092–8.Google Scholar
Pena, LDM, Jiang, YH, Schoch, K, et al. Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med 2018;20(4):464–9.Google Scholar
Shashi, V, McConkie-Rosell, A, Schoch, K, et al. Practical considerations in the clinical application of whole-exome sequencing. Clin Genet 2016;89(2):173–81.Google Scholar
Green, RC, Berg, JS, Grody, WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15(7):565–74.Google Scholar
Buckley, RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: Longterm outcomes. Immunol Res 2011;49(1–3):25–43.Google Scholar
Buckley, RH. Breakthroughs in the understanding and therapy of primary immunodeficiency. Pediatr Clin North Am 1994;41(4):665–90.Google Scholar
Dorsey, MJ, Petrovic, A, Morrow, MR, Dishaw, LJ, Sleasman, JW. FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Immunol Res 2009;44(1–3):179–84.Google Scholar
Seidel, MG, Fritsch, G, Lion, T, et al. Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. Blood 2009;113(22):5689–91.Google Scholar
Zhan, H, Sinclair, J, Adams, S, et al. Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome. Pediatrics 2008;121(4):e998–1002.Google Scholar
Rosen, FS. Severe combined immunodeficiency: A pediatric emergency. J Pediatr 1997;130(3):345–6.Google Scholar
Ferrua, F, Aiuti, A. Twenty-five years of gene therapy for ADA-SCID: From bubble babies to an approved drug. Hum Gene Ther 2017;28(11):972–81.Google Scholar
Cavazzana, M, Six, E, Lagresle-Peyrou, C, Andre-Schmutz, I, Hacein-Bey-Abina, S. Gene therapy for X-Linked severe combined Immunodeficiency: Where do we stand? Hum Gene Ther 2016;27(2):108–16.Google Scholar
Cavazzana-Calvo, M, Hacein-Bey, S, de Saint Basile, G, et al. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000;288(5466):669–72.CrossRefGoogle ScholarPubMed
Hacein-Bey-Abina, S, Le Deist, F, Carlier, F, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 2002;346(16):1185–93.Google Scholar
Punwani, D, Kawahara, M, Yu, J, et al. Lentivirus mediated correction of Artemis-deficient severe combined immunodeficiency. Hum Gene Ther 2017;28(1):112–24.Google Scholar
Succi, RC, Farhat, CK. Vaccination in special situations. J Pediatr (Rio J) 2006;82(3 Suppl):S91–100.Google Scholar
Petersen, BW, Harms, TJ, Reynolds, MG, Harrison, LH. Use of vaccinia virus smallpox vaccine in laboratory and health care personnel at risk for occupational exposure to orthopoxviruses: Recommendations of the Advisory Committee on Immunization Practices (ACIP), 2015. Morb Mortal Wkly Rep 2016;65(10):257–62.Google Scholar
Medical Advisory Committee of the Immune Deficiency F, Shearer, WT, Fleisher, TA, Buckley, RH, et al. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol 2014;133(4):961–6.Google Scholar
Marin M, , Guris, D, Chaves, SS, Schmid, S, Seward, JF. Prevention of varicella: Recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep 2007;56(RR-4):1–40.Google Scholar
Grossberg, R, Harpaz, R, Rubtcova, E, et al. Secondary transmission of varicella vaccine virus in a chronic care facility for children. J Pediatr 2006;148(6):842–4.Google Scholar
Ohlsson, A, Lacy, JB. Intravenous immunoglobulin for preventing infection in preterm and/or low birth weight infants. Cochrane Database Syst Rev 2013(7):CD000361.Google Scholar
Skull, S, Kemp, A. Treatment of hypogammaglobulinaemia with intravenous immunoglobulin, 1973–93. Arch Dis Child 1996;74(6):527–30.Google Scholar
Berger, M. Principles of and advances in immunoglobulin replacement therapy for primary immunodeficiency. Immunol Allergy Clin North Am 2008;28(2):413–37, x.Google Scholar
Ohlsson, A, Lacy, JB. Intravenous immunoglobulin for suspected or subsequently proven infection in neonates. Cochrane Database Syst Rev 2004(1):Cd001239.Google Scholar
Christensen, RD, Brown, MS, Hall, DC, Lassiter, HA, Hill, HR. Effect on neutrophil kinetics and serum opsonic capacity of intravenous administration of immune globulin to neonates with clinical signs of early-onset sepsis. J Pediatr 1991; 118 (4 Pt 1):606–14.Google Scholar
Weisman, LE, Stoll, BJ, Kueser, TJ, et al. Intravenous immune globulin therapy for early-onset sepsis in premature neonates. J Pediatr 1992;121(3):434–43.Google Scholar
Madsen, DL, Catanzarite, VA, Varela-Gittings, F. Common variable hypogammaglobulinemia in pregnancy: Treatment with high-dose immunoglobulin infusions. Am J Hematol 1986;21(3):327–9.Google Scholar
Barros, MD, Porto, MH, Leser, PG, Grumach, AS, Carneiro-Sampaio, MM. Study of colostrum of a patient with selective IgA deficiency. Allergol Immunopathol (Madr) 1985;13(4):331–4.Google Scholar
Buckley, M, Dees, SC, O’Fallon, WM. Serum immunoglobulins. I. Levels in normal children and in uncomplicated childhood allergy. Pediatrics 1968;41:600–11.Google Scholar