Immunodeficiency Diseases of the Neonate

doi:10.1017/9781108773584.007

Chapter 5 - Immunodeficiency Diseases of the Neonate

from Section II - Bone Marrow Failure and Immune Disorders

Published online by Cambridge University Press: 30 January 2021

Julie J. Kim-Chang ,

James L. Wynn ,

Matthew A. Saxonhouse and

John W. Sleasman

Edited by

Pedro A. de Alarcón ,

Eric J. Werner ,

Robert D. Christensen and

Martha C. Sola-Visner

Show author details

Pedro A. de Alarcón: Affiliation:
University of Illinois College of Medicine
Eric J. Werner: Affiliation:
Children's Hospital of the King's Daughters
Robert D. Christensen: Affiliation:
University of Utah
Martha C. Sola-Visner: Affiliation:
Harvard University, Massachusetts

Book contents

Get access

Summary

Understanding the development of specific components of the neonatal immune system is critical to the understanding of the susceptibility of the neonate to specific pathogens [1]. With the increasing survival of extremely premature infants, neonatologists and other physicians caring for these newborns need to be aware of the vulnerability of this population. Furthermore, it is important for neonatologists to be able to differentiate between immune immaturity and the manifestations of a true primary immunodeficiency that present during the neonatal period. Failure to properly identify primary or acquired immunodeficiency diseases can result in delayed diagnosis and treatment, adversely affecting outcomes. This chapter will briefly define the immune immaturity of the neonate and a diagnostic approach for primary immune deficiency diseases that may present in the neonatal period.

Type: Chapter
Information: Neonatal Hematology
Pathogenesis, Diagnosis, and Management of Hematologic Problems
, pp. 62 - 92

DOI: https://doi.org/10.1017/9781108773584.007 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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.CrossRef Google Scholar PubMed

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.CrossRef Google Scholar PubMed

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.CrossRef 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.CrossRef 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.Google Scholar

Zinkernagel, RM. Maternal antibodies, childhood infections, and autoimmune diseases. N Engl J Med 2001;345(18):1331–5.CrossRef Google Scholar PubMed

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.CrossRef Google Scholar PubMed

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. Humoral immunodeficiency. Clin Immunol Immunopathol 1986;40(1):13–24.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.CrossRef Google Scholar PubMed

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.Google Scholar

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.Google Scholar

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.Google Scholar

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.Google Scholar

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.CrossRef Google Scholar PubMed

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

Fuleihan, RL. The hyper IgM syndrome. Curr Allergy Asthma Rep 2001;1(5):445–50.Google Scholar

Conley, ME, Dobbs, AK, Farmer, DM, et al. Primary B cell immunodeficiencies: Comparisons and contrasts. Annu Rev Immunol 2009;27:199–227.CrossRef Google Scholar PubMed

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.Google 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.CrossRef Google Scholar PubMed

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.Google Scholar

Frank, MM. Complement deficiencies. Pediatr Clin North Am 2000;47(6):1339–54.Google Scholar

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/all Google 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/introduction Google 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

Fischer, A. Primary T-cell immunodeficiencies. Curr Opin Immunol 1993;5(4):569–78.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

Fischer, A. Severe combined immunodeficiencies. Immunodefic Rev 1992;3(2):83–100.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.Google Scholar

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

Book contents

Chapter 5 - Immunodeficiency Diseases of the Neonate

Summary

Access options

References

Save book to Kindle

Save book to Dropbox

Save book to Google Drive