Immunodeficiency diseases of the neonate

doi:10.1017/CBO9780511545306.014

12 - Immunodeficiency diseases of the neonate

Published online by Cambridge University Press: 10 August 2009

Matthew A. Saxonhouse and

John W. Sleasman

Edited by

Pedro A. de Alarcón and

Eric J. Werner

Foreword by

J. Lawrence Naiman

Show author details

Pedro A. de Alarcón: Affiliation:
University of Tennessee
Eric J. Werner: Affiliation:
Eastern Virginia Medical School
J. Lawrence Naiman: Affiliation:
Stanford University School of Medicine, California

Book contents

Get access

Summary

Introduction

Significant progress has been made towards the understanding of the clinical implications of the neonatal immune system and its immaturity. With the increasing survival of extremely premature infants, neonatologists and other physicians caring for these patients must be aware of the vulnerability of this select patient population. It is also important for neonatologists and pediatricians to be able to differentiate between immune immaturity and a true primary immunodeficiency that may present during the neonatal period. Failure to identify properly primary immunodeficiency diseases can result in delayed diagnosis and treatment, which can significantly affect the outcome of the disease. This chapter defines the immune immaturity of the neonate and how it impacts susceptibility to neonatal infection. It will describe the specific immune deficiency syndromes that may present during the neonatal period. Finally, the diagnosis and management of neonatal immunodeficiency diseases will be discussed in length in order to provide the reader with the proper approach and management guidelines to care adequately for these individuals.

Immaturity of the neonatal immune system

The immaturity of a neonate's immune response places the neonate at an increased risk for serious infection. An understanding of the development of the neonatal immune system is essential in order to be able to differentiate the clinical manifestations of infection associated with immaturity from those that identify a specific acquired or primary immunodeficiency disease. The focus of this section is to define how the immune immaturity of the neonate impacts susceptibility to infection.

Type: Chapter
Information: Neonatal Hematology , pp. 280 - 309

DOI: https://doi.org/10.1017/CBO9780511545306.014 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2005

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

Edwards, M. S., Buffone, G. J., Fuselier, P. A., Weeks, J. L., Baker, C. J.Deficient classical complement pathway activity in newborn sera. Pediatr Res 1983; 17: 685–688CrossRef Google Scholar PubMed

Geelen, S. P., Fleer, A., Bezemer, A. C., et al.Deficiencies in opsonic defense to pneumococci in the human newborn despite adequate levels of complement and specific IgG antibodies. Pediatr Res 1990; 27: 514–518CrossRef Google Scholar PubMed

Marodi, L., Leijh, P. C., Braat, A., Daha, M. R., Furth, R.Opsonic activity of cord blood sera against various species of microorganism. Pediatr Res 1985; 19: 433–436CrossRef Google Scholar PubMed

Mills, E. L., Bjorksten, B., Quie, P. G.Deficient alternative complement pathway activity in newborn sera. Pediatr Res 1979; 13: 1341–1344CrossRef Google Scholar PubMed

Barrett, D. J., Sleasman, J. W. Immunodeficiency disorders in infants and children. In Kass, E. H., Platt, R., eds. Current Therapy in Infectious Disease. Philadelphia: BC Decker, 1990: 51–68Google Scholar

Zach, T. L., Hostetter, M. K.Biochemical abnormalities of the third component of complement in neonates. Pediatr Res 1989; 26: 116–120CrossRef Google Scholar PubMed

Winkelstein, J. A., Kurlandsky, L. E., Swift, A. J.Defective activation of the third component of complement in the sera of newborn infants. Pediatr Res 1979; 13: 1093–1096CrossRef Google Scholar PubMed

Wilson, C. B., Lewis, D. B., Perix, L. A. The physiologic immunodeficiency of immaturity. In Stiehm, R. F. ed. Immunologic Disorders in Infants and Children, Vol. 1. Philadelphia: W. B. Saunders, 1996: 253–296Google 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–S409CrossRef Google Scholar PubMed

Schelonka, R. L., Infante, A. J.Neonatal immunology. Semin Perinatol 1998; 22: 2–14CrossRef Google Scholar PubMed

Yoder, M. P. R. The immune system. In Avroy, A., Fanaroff, R. J. M., eds. Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant, Vol. 1. St Louis: Mosby, 1997: 685–717Google Scholar

Colten, H. R.Ontogeny of the human complement system: in vitro biosynthesis of individual complement components by fetal tissues. J Clin Invest 1972; 51: 725–730CrossRef Google Scholar PubMed

Davis, C. A., Vallota, E. H., Forristal, J.Serum complement levels in infancy: age related changes. Pediatr Res 1979; 13: 1043–1046CrossRef Google Scholar PubMed

Barnard, D. R., Arthur, M. M.Fibronectin (cold insoluble globulin) in the neonate. J Pediatr 1983; 102: 453–455CrossRef Google Scholar PubMed

Yoder, M. C., Douglas, S. D., Gerdes, J., Kline, J., Polin, R. A.Plasma fibronectin in healthy newborn infants: respiratory distress syndrome and perinatal asphyxia. J Pediatr 1983; 102: 777–780CrossRef Google Scholar PubMed

Gerdes, J. S., Yoder, M. C., Douglas, S. D., Polin, R. A.Decreased plasma fibronectin in neonatal sepsis. Pediatrics 1983; 72: 877–881Google Scholar PubMed

Philip, A. G.Response of C-reactive protein in neonatal Group B streptococcal infection. Pediatr Infect Dis 1985; 4: 145–148CrossRef Google Scholar PubMed

Hill, H. R.Biochemical, structural, and functional abnormalities of polymorphonuclear leukocytes in the neonate. Pediatr Res 1987; 22: 375–382CrossRef Google Scholar PubMed

Ainbender, E., Cabatu, E. E., Guzman, D. M., Sweet, A. Y.Serum C-reactive protein and problems of newborn infants. J Pediatr 1982; 101: 438–440CrossRef Google Scholar PubMed

Summerfield, J. A., Sumiya, M., Levin, M., Turner, M. W.Association of mutations in mannose binding protein gene with childhood infection in consecutive hospital series. Br Med J 1997; 314: 1229–1232CrossRef Google Scholar PubMed

Lau, Y. L., Chan, S. Y., Turner, M. W., Fong, J., Karlberg, J.Mannose-binding protein in preterm infants: developmental profile and clinical significance. Clin Exp Immunol 1995; 102: 649–654CrossRef Google Scholar PubMed

Wilson, C. B., Lewis, D. B.Basis and implications of selectively diminished cytokine production in neonatal susceptibility to infection. Rev Infect Dis 1990; 12 (Suppl 4): S410–S420CrossRef Google Scholar PubMed

Dretschmer, R. R., Stewardson, R. B., Papierniak, C. K., Gotoff, S. P.Chemotactic and bactericidal capacities of human newborn monocytes. J Immunol 1976; 117: 1303–1307Google Scholar PubMed

Kilpatrick, L., Harris, M. C. Cytokine and the inflammatory response. In Polin, R. A., Fox, W. W., ed. Fetal and Neonatal Physiology. Philadelphia: W. B. Saunders, 1998: 1967–1980Google Scholar

Nesin, M., Cunningham-Rundles, S.Cytokines and neonates. Am J Perinatol 2000; 17: 393–404CrossRef Google Scholar PubMed

Wong, G. H., Goeddel, D. V.Tumour necrosis factors alpha and beta inhibit virus replication and synergize with interferons. Nature 1986; 323: 819–822CrossRef Google Scholar PubMed

Slayton, W. Development of the immune system in the human fetus. In Christensen, R., ed. Hematologic Problems of the Neonate. Philadelphia: W. B. Saunders, 2000: 21–41Google Scholar

Lin, H., Mosmann, T. R., Guilbert, L., Tuntipopipat, S., Wegmann, T. G.Synthesis of T helper 2-type cytokines at the maternal-fetal interface. J Immunol 1993; 151: 4562–4573Google Scholar

Formby, B.Immunologic response in pregnancy: its role in endocrine disorders of pregnancy and influence on the course of maternal autoimmune diseases. Endocrinol Metab Clin North Am 1995; 24: 187–205Google Scholar PubMed

Stallmach, T., Hebisch, G., Joller-Jemelka, H. I., et al.Cytokine production and visualized effects in the feto-maternal unit: quantitative and topographic data on cytokines during intrauterine disease. Lab Invest 1995; 73: 384–392Google Scholar PubMed

Luettichau, I., Nelson, P. J., Pattison, J. M., et al.RANTES chemokine expression in diseased and normal human tissues. Cytokine 1996; 8: 89–98CrossRef Google Scholar

Shimoya, K., Matsuzaki, N., Taniguchi, T., et al.Interleukin-8 in cord sera: a sensitive and specific marker for the detection of preterm chorioamnionitis. J Infect Dis 1992; 165: 957–960CrossRef Google Scholar PubMed

Zhou, P., Goldstein, S., Devadas, K., Tewari, D., Notkins, A. L.Human CD4+ cells transfected with IL-16 cDNA are resistant to HIV-1 infection: inhibition of mRNA expression. Nat Med 1997; 3: 659–664CrossRef Google Scholar PubMed

Lim, K. G., Wan, H. C., Bozza, P. T., et al.Human eosinophils elaborate the lymphocyte chemoattractants: IL-16 (lymphocyte chemoattractant factor) and RANTES. J Immunol 1996; 156: 2566–2570Google Scholar PubMed

Sorensen, R. U., Moore, C.Antibody deficiency syndromes. Pediatr Clin North Am 2000; 47: 1225–1252CrossRef Google Scholar PubMed

Schroeder, H. W. Jr, Zhang, L., Philips, J. B., , 3rd.Slow, programmed maturation of the immunoglobulin HCDR3 repertoire during the third trimester of fetal life. Blood 2001; 98: 2745–2751CrossRef Google Scholar PubMed

Owen, J. J., Cooper, M. D., Raff, M. C.In vitro generation of B lymphocytes in mouse foetal liver, a mammalian ‘bursa equivalent. Nature 1974; 249: 361–363CrossRef Google Scholar PubMed

DeBiagi, M., Andreani, M., Centis, F.Immune characterization of human fetal tissues with monoclonal antibodies. Prog Clin Biol Res 1985; 193: 89–94Google Scholar PubMed

Hayward, A. R., Ezer, G.Development of lymphocyte populations in the human foetal thymus and spleen. Clin Exp Immunol 1974; 17: 169–178Google Scholar PubMed

Gupta, S., Pahwa, R., O'Reilly, R., Good, R. A., Siegal, F. P.Ontogeny of lymphocyte subpopulations in human fetal liver. Proc Natl Acad Sci USA 1976; 73: 919–922CrossRef Google Scholar PubMed

Gathings, W. E., Lawton, A. R., Cooper, M. D.Immunofluorescent studies of the development of pre-B-cells, B lymphocytes and immunoglobulin isotype diversity in humans. Eur J Immunol 1977; 7: 804–810CrossRef Google Scholar PubMed

Gathings, W. E., Kubagawa, H., Cooper, M. D.A distinctive pattern of B-cell immaturity in perinatal humans. Immunol Rev 1981; 57: 107–126CrossRef Google Scholar PubMed

Schroeder, H. W. Jr, Hillson, J. L., Perlmutter, R. M.Early restriction of the human antibody repertoire. Science 1987; 238: 791–793CrossRef Google Scholar PubMed

Cuisinier, A. M., Guigou, V., Boubli, L., Fougereau, M., Tonnelle, C.Preferential expression of VH5 and VH6 immunoglobulin genes in early human B-cell ontogeny. Scand J Immunol 1989; 30: 493–497CrossRef Google Scholar PubMed

Ballow, M., Cates, K. L., Rowe, J. C., 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: 899–904CrossRef Google Scholar

Schaffer, F. M., Newton, J. A.Intravenous gamma globulin administration to common variable immunodeficient women during pregnancy: case report and review of the literature. J Perinatol 1994; 14: 114–117Google Scholar PubMed

Landor, M.Maternal-fetal transfer of immunoglobulins. Ann Allergy Asthma Immunol 1995; 74: 279–283, 284Google Scholar PubMed

Stiehm, E. R., Fudenberg, H. H.Serum levels of immune globulins in health and disease: a survey. Pediatrics 1966; 37: 715–727Google Scholar PubMed

Cederqvist, L. L., Ewool, L. C., Litwin, S. D.The effect of fetal age, birth weight, and sex on cord blood immunoglobulin values. Am J Obstet Gynecol 1978; 131: 520–525CrossRef Google Scholar

Alford, C. A. Jr, Stagno, S., Reynolds, D. W.Diagnosis of chronic perinatal infections. Am J Dis Child 1975; 129: 455–463Google Scholar PubMed

Griffiths, P. D., Stagno, S., Pass, R. F., Smith, R. J., Alford, C. A. Jr.Congenital cytomegalovirus infection: diagnostic and prognostic significance of the detection of specific immunoglobulin M antibodies in cord serum. Pediatrics 1982; 69: 544–549Google Scholar PubMed

Enders, G.Serologic test combinations for safe detection of rubella infections. Rev Infect Dis 1985; 7 (Suppl 1): S113–S122CrossRef Google Scholar PubMed

Naot, Y., Desmonts, G., Remington, J. S.IgM enzyme-linked immunosorbent assay test for the diagnosis of congenital Toxoplasma infection. J Pediatr 1981; 98: 32–36CrossRef Google Scholar

Leung, D. Y., Young, M. C., Geha, R. S.Secretion of IgE-specific potentiating factors by human Fc epsilon R+ T cell lines. Int Arch Allergy Appl Immunol 1985; 77: 232–234CrossRef Google Scholar PubMed

Morito, T., Bankhurst, A. D., Williams, R. C. Jr.Studies of human cord blood and adult lymphocyte interactions with in vitro immunoglobulin production. J Clin Invest 1979; 64: 990–995CrossRef Google Scholar PubMed

Nagaoki, T., Miyawaki, T., Ciorbaru, R., et al.Maturation of B-cell differentiation ability and T cell regulatory function during child growth assessed in a Nocardia water soluble mitogen-driven system. J Immunol 1981; 126: 2015–2019Google Scholar

Haynes, B. F., Martin, M. E., Kay, H. H., Kurtzberg, J.Early events in human T cell ontogeny: phenotypic characterization and immunohistologic localization of T cell precursors in early human fetal tissues. J Exp Med 1988; 168: 1061–1080CrossRef Google Scholar

Asma, G. E., Bergh, R. L., Vossen, J. M.Use of monoclonal antibodies in a study of the development of T lymphocytes in the human fetus. Clin Exp Immunol 1983; 53: 429–436Google Scholar

Campbell, A. C., Waller, C., Wood, J., Aynsley-Green, A., Yu, V.Lymphocyte subpopulations in the blood of newborn infants. Clin Exp Immunol 1974; 18: 469–482Google Scholar PubMed

Struyk, L., Howes, G. E., Raaphorst, F. M., et al. The human peripheral T-cell repertoire. In Elsen, P., ed. The Human T-Cell Receptor Repertoire and Transplantation. Austin, TX: RG Landes, 1995: 29–61CrossRef Google Scholar

Strauss, R. G.Data-driven blood banking practices for neonatal RBC transfusions. Transfusion 2000; 40: 1528–1540CrossRef Google Scholar PubMed

Lewis, D. B., Yu, C. C., Meyer, J., et al.Cellular and molecular mechanisms for reduced interleukin 4 and interferon-gamma production by neonatal T-cells. J Clin Invest 1991; 87: 194–202CrossRef Google Scholar PubMed

Pirenne-Ansart, H., Paillard, F., Groote, D., et al.Defective cytokine expression but adult-type T-cell receptor, CD8, and p56lck modulation in CD3- or CD2-activated T-cells from neonates. Pediatr Res 1995; 37: 64–69CrossRef Google Scholar PubMed

Splawski, J. B., Nishioka, J., Nishioka, Y., Lipsky, P. E.CD40 ligand is expressed and functional on activated neonatal T cells. J Immunol 1996; 156: 119–127Google Scholar PubMed

Durandy, A., Saint Basile, G., Lisowska-Grospierre, B., et al.Undetectable CD40 ligand expression on T cells and low B cell responses to CD40 binding agonists in human newborns. J Immunol 1995; 154: 1560–1568Google Scholar

Nonoyama, S., Penix, L. A., Edwards, C. P., et al.Diminished expression of CD40 ligand by activated neonatal T cells. J Clin Invest 1995; 95: 66–75CrossRef Google Scholar PubMed

Sleasman, J. W., Morimoto, C., Schlossman, S. F., Tedder, T. F.The role of functionally distinct helper T lymphocyte subpopulations in the induction of human B cell differentiation. Eur J Immunol 1990; 20: 1357–1366CrossRef Google Scholar PubMed

Buckley, R. H.Humoral immunodeficiency. Clin Immunol Immunopathol 1986; 40: 13–24CrossRef Google Scholar PubMed

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: 226–233CrossRef Google Scholar PubMed

Paul, M. E., Shearer, W. T. Approach to the evaluation of the immunodeficient patient. In Rich, R. R., Fleisher, T. A., Shearer, W. T., Kotzin, B. L., Schroeder, H. W., eds. Clinical Immunology: Principles and Practice, Vol. 1. London: Mosby, 2001: 33.1–33.11Google Scholar

Ochs, H. D., Smith, C. I.X-linked agammaglobulinemia. A clinical and molecular analysis. Medicine (Baltimore) 1996; 75: 287–299Google Scholar PubMed

Kanegane, H., Futatani, T., Wang, Y., et al.Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. J Allergy Clin Immunol 2001; 108: 1012–1020CrossRef Google Scholar PubMed

Linch, D. C., Beverley, P. C., Levinsky, R. J., Rodeck, C. H.Phenotypic analysis of fetal blood leucocytes: potential for prenatal diagnosis of immunodeficiency disorders. Prenat Diagn 1982; 2: 211–218CrossRef Google Scholar PubMed

Fuleihan, R. L.The hyper IgM syndrome. Curr Allergy Asthma Rep 2001; 1: 445–450CrossRef Google Scholar PubMed

Levy, J., Espanol-Boren, T., Thomas, C., et al.Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131: 47–54CrossRef Google Scholar PubMed

Callard, R. E., Armitage, R. J., Fanslow, W. C., Spriggs, M. K.CD40 ligand and its role in X-linked hyper-IgM syndrome. Immunol Today 1993; 14: 559–564CrossRef Google Scholar PubMed

Lane, P., Traunecker, A., Hubele, S., et al.Activated human T cells express a ligand for the human B cell-associated antigen CD40 which participates in T cell-dependent activation of B lymphocytes. Eur J Immunol 1992; 22: 2573–2578CrossRef Google Scholar

Noelle, R. J., Roy, M., Shepherd, D. M., et al.A 39-kDa protein on activated helper T cells binds CD40 and transduces the signal for cognate activation of B cells. Proc Natl Acad Sci USA 1992; 89: 6550–6554CrossRef Google Scholar PubMed

Spriggs, M. K., Fanslow, W. C., Armitage, R. J., Belmont, J.The biology of the human ligand for CD40. J Clin Immunol 1993; 13: 373–380CrossRef Google Scholar PubMed

Ochs, H. D., Hollenbaugh, D., Aruffo, A.The role of CD40L (gp39)/CD40 in T/B cell interaction and primary immunodeficiency. Semin Immunol 1994; 6: 337–341CrossRef 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: 551–553CrossRef Google Scholar PubMed

Schwaber, J., Rosen, F. S.X chromosome linked immunodeficiency. Immunodefic Rev 1990; 2: 233–251Google Scholar PubMed

Tiller, T. L. Jr, Buckley, R. H.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: 347–353CrossRef Google Scholar PubMed

McGeady, S. J.Transient hypogammaglobulinemia of infancy: need to reconsider name and definition. J Pediatr 1987; 110: 47–50CrossRef Google Scholar PubMed

Dressler, F., Peter, H. H., Muller, W., Rieger, C. H.Transient hypogammaglobulinemia of infancy: five new cases, review of the literature and redefinition. Acta Paediatr Scand 1989; 78: 767–774CrossRef Google Scholar PubMed

English, B. K., Schroeder, H. W., Wilson, C. B. Immaturity of the fetal and neonatal immune system. In Rich, R. R., Fleisher, T. A., Shearer, W. T., Kotzin, B. L., Schroeder, H. W., eds. Clinical Immunology: Principles and Practice, Vol. 1. London: Mosby, 2001: 40.1–40.10Google Scholar

Geha, R. S.Antibody deficiency syndromes and novel immunodeficiencies. Pediatr Infect Dis J 1988; 7: S57–S60CrossRef Google Scholar PubMed

Schroeder, H. W. Primary antibody deficiency. In: Rich, R. R., Fleisher, T. A., Shearer, W. T., Kotzin, B. L., Schroeder, H. W., ed. Clinical Immunology: Principles and Practice. St Louis: Mosby International, 2001Google Scholar

Buckley, R. H.Primary cellular immunodeficiencies. J Allergy Clin Immunol 2002; 109: 747–757CrossRef Google Scholar PubMed

Hong, R.The DiGeorge anomaly. Clin Rev Allergy Immunol 2001; 20: 43–60CrossRef Google Scholar PubMed

Cormier-Daire, V., Iserin, L., Theophile, D., et al.Upper limb malformations in DiGeorge syndrome. Am J Med Genet 1995; 56: 39–41CrossRef Google Scholar PubMed

Sullivan, K. E.DiGeorge syndrome/chromosome 22q11.2 deletion syndrome. Curr Allergy Asthma Rep 2001; 1: 438–444CrossRef Google Scholar PubMed

Junker, A. K., Driscoll, D. A.Humoral immunity in DiGeorge syndrome. J Pediatr 1995; 127: 231–237CrossRef Google Scholar PubMed

Jawad, A. F., McDonald-Mcginn, D. M., Zackai, E., Sullivan, K. E.Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr 2001; 139: 715–723CrossRef Google Scholar

Klein, C., Lisowska-Grospierre, B., LeDeist, F., Fischer, A., Griscelli, C.Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome. J Pediatr 1993; 123: 921–928CrossRef Google Scholar PubMed

Nagarajan, U. M., Louis-Plence, P., DeSandro, A., et al.RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity 1999; 10: 153–162CrossRef Google Scholar PubMed

Mofenson, L. M.Mother-child HIV-1 transmission: timing and determinants. Obstet Gynecol Clin North Am 1997; 24: 759–784CrossRef Google Scholar PubMed

Shearer, W. T., Quinn, T. C., 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: 1337–1342CrossRef Google Scholar PubMed

1993 revised classification system for HIV infection and expanded surveillance case definition for AIDS among adolescents and adults. MMWR Recomm Rep 1992; 41: 1–19

Ochs, H. D.The Wiskott-Aldrich syndrome. Clin Rev Allergy Immunol 2001; 20: 61–86CrossRef Google Scholar PubMed

Buckley, R. H.Primary immunodeficiency diseases due to defects in lymphocytes. N Engl J Med 2000; 343: 1313–1324CrossRef Google Scholar PubMed

International Union of Immunological Societies. Primary immunodeficiency diseases: report of an IUIS Scientific Committee. Clin Exp Immunol 1999; 118 (Suppl 1): 1–28CrossRef

Sullivan, K. E.Recent advances in our understanding of Wiskott–Aldrich syndrome. Curr Opin Hematol 1999; 6: 8–14CrossRef Google Scholar PubMed

Thrasher, A. J.WASp in immune-system organization and function. Nat Rev Immunol 2002; 2: 635–646CrossRef Google Scholar PubMed

Derry, J. M., Ochs, H. D., Francke, U.Isolation of a novel gene mutated in Wiskott–Aldrich syndrome. Cell 1994; 78: 635–644CrossRef Google Scholar PubMed

Saint Basile, G., Arveiler, B., Fraser, N. J., et al.Close linkage of hypervariable marker DXS255 to disease locus of Wiskott–Aldrich syndrome. Lancet 1989; 2: 1319–1321CrossRef Google Scholar PubMed

Finan, P. M., Soames, C. J., 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: 26291–26295CrossRef Google Scholar PubMed

Schwarz, K.WASPbase: a database of WAS- and XLT-causing mutations. Immunol Today 1996; 17: 496–502CrossRef Google Scholar PubMed

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: 546–550Google 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: 68–76CrossRef Google Scholar PubMed

Ochs, H. D., Rosen, F. S. The Wiskott–Aldrich syndrome. In Ochs, H. D., Smith, C. I. E., Puck, J. M., eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford: Oxford University Press, 1999: 292–305Google Scholar

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

Buckley, R. H., Fischer, A. Bone marrow transplantation for primary immunodeficiency diseases. In Ochs, H. D., Smith, C. I. E., Puck, J. M., eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford: Oxford University Press, 1999: 459–475Google Scholar

Buckley, R. H.Advances in the understanding and treatment of human severe combined immunodeficiency. Immunol Res 2000; 22: 237–251CrossRef Google Scholar PubMed

Buckley, R. H., Schiff, S. E., Schiff, R. I., et al.Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med 1999; 340: 508–516CrossRef Google Scholar PubMed

Puck, J. M., Conley, M. E., Bailey, L. C.Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13. Am J Hum Genet 1993; 53: 176–184Google Scholar PubMed

Puck, J. M., Deschenes, S. M., Porter, J. C., et al.The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 1993; 2: 1099–1104CrossRef Google Scholar PubMed

Vosshenrich, C. A., Di Santo, J. P.Cytokines: IL-21 joins the gamma(c)-dependent network?Curr Biol 2001; 11: R175–R177CrossRef Google Scholar PubMed

Noguchi, M., Yi, H., Rosenblatt, H. M., et al.Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993; 73: 147–157CrossRef Google Scholar PubMed

Sleasman, J. W., Harville, T. O., White, G. B., et al.Arrested rearrangement of TCR V beta genes in thymocytes from children with X-linked severe combined immunodeficiency disease. J Immunol 1994; 153: 442–448Google Scholar PubMed

Elder, M. E., Lin, D., Clever, J., et al.Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 1994; 264: 1596–1599CrossRef Google Scholar PubMed

Buckley, R. H., Schiff, R. I., Schiff, S. E., et al.Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 1997; 130: 378–387CrossRef Google Scholar PubMed

Hirschhorn, R. Immunodeficiency diseases due to deficiency of adenosine deaminase. In Ochs, H. D., Smith, C. I. E., Puck, J. M., eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford: Oxford University Press, 1999: 121–139Google Scholar

Hirschhorn, R.Adenosine deaminase deficiency. Immunodefic Rev 1990; 2: 175–198Google Scholar PubMed

Santagata, S., Villa, A., Sobacchi, C., Cortes, P., Vezzoni, P.The genetic and biochemical basis of Omenn syndrome. Immunol Rev 2000; 178: 64–74CrossRef Google Scholar PubMed

Villa, A., Santagata, S., Bozzi, F., Imberti, L., Notarangelo, L. D.Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol 1999; 19: 87–97CrossRef Google Scholar PubMed

Rieux-Laucat, F., Bahadoran, P., Brousse, N., et al.Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome. J Clin Invest 1998; 102: 312–321CrossRef Google Scholar

Brooks, E. G., Filipovich, A. H., Padgett, J. W., Mamlock, R., Goldblum, R. M.T-cell receptor analysis in Omenn's syndrome: evidence for defects in gene rearrangement and assembly. Blood 1999; 93: 242–250Google Scholar

Magnuson, N. S., Perryman, L. E.Metabolic defects in severe combined immunodeficiency in man and animals. Comp Biochem Physiol B 1986; 83: 701–710CrossRef Google Scholar PubMed

Colten, H. R., Rosen, F. S.Complement deficiencies. Annu Rev Immunol 1992; 10: 809–834CrossRef Google Scholar PubMed

Frank, M. M.Complement deficiencies. Pediatr Clin North Am 2000; 47: 1339–1354CrossRef Google Scholar PubMed

Virella, G., Sleasman, J. W. Diagnosis of immunodeficiency diseases. In: Virella, G., ed. Medical Immunology, Vol. 1. New York: Marcel Dekker, 2001: 555–572Google Scholar

Puck, J. M.Molecular and genetic basis of X-linked immunodeficiency disorders. J Clin Immunol 1994; 14: 81–89CrossRef Google Scholar PubMed

Puck, J. M.Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders. Pediatr Res 1993; 33: S29–S33, S33–S34CrossRef Google Scholar PubMed

Martin, N. L., Levy, J. A., Legg, H., et al.Detection of infection with human immunodeficiency virus (HIV) type 1 in infants by an anti-HIV immunoglobulin A assay using recombinant proteins. J Pediatr 1991; 118: 354–358CrossRef Google Scholar PubMed

McIntosh, K., Comeau, A. M., Wara, D., et al.The utility of IgA antibody to human immunodeficiency virus type 1 in early diagnosis of vertically transmitted infection. National Institute of Allergy and Infectious Diseases and National Institute of Child Health and Human Development Women and Infants Transmission Study Group. Arch Pediatr Adolesc Med 1996; 150: 598–602CrossRef Google Scholar PubMed

Buckley, R. H.Breakthroughs in the understanding and therapy of primary immunodeficiency. Pediatr Clin North Am 1994; 41: 665–690CrossRef Google Scholar PubMed

Ohlsson, A., Lacy, J. B. Intravenous immunoglobulin for preventing infection in preterm and/or low-birth-weight infants. Cochrane Database Syst Rev 2001; 2

Skull, S., Kemp, A.Treatment of hypogammaglobulinaemia with intravenous immunoglobulin, 1973–93. Arch Dis Child 1996; 74:527–530CrossRef Google Scholar PubMed

Ohlsson, A., Lacy, J. B. Intravenous immunoglobulin for suspected or subsequently proven infection in neonates. Cochrane Database Syst Rev 2001; 2

Christensen, R. D., Brown, M. S., Hall, D. C., Lassiter, H. A., Hill, H. R.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: 606–614CrossRef Google Scholar PubMed

Weisman, L. E., Stoll, B. J., Kueser, T. J., et al.Intravenous immune globulin therapy for early-onset sepsis in premature neonates. J Pediatr 1992; 121: 434–443CrossRef Google Scholar PubMed

Shroeder, H. W. Primary antibody deficiency. In: Rich, R. R., Fleisher, T. A., Shearer, W. T., Kotzin, B. L., Schroeder, H. W., eds. Clinical Immunology: Principles and Practice. St Louis: Mosby International, 2001Google Scholar

Committee on Infectious Diseases, American Academy of Pediatrics. Red Book: Report of the Committee on Infectious Diseases, Vol. 1. Elk Grove: American Academy of Pediatrics, 2000

Sacher, R. A., King, J. C.Intravenous gamma-globulin in pregnancy: a review. Obstet Gynecol Surv 1989; 44: 25–34CrossRef Google Scholar PubMed

Madsen, D. L., Catanzarite, V. A., Varela-Gittings, F.Common variable hypogammaglobulinemia in pregnancy: treatment with high-dose immunoglobulin infusions. Am J Hematol 1986; 21: 327–329CrossRef Google Scholar PubMed

Barros, M. D., Porto, M. H., Leser, P. G., Grumach, A. S., Carneiro-Sampaio, M. M.Study of colostrum of a patient with selective IgA deficiency. Allergol Immunopathol (Madr) 1985; 13: 331–334Google Scholar PubMed

Rosen, F.Severe combined immunodeficiency: a pediatric emergency. J Pediatr 1997; 130: 345–346Google Scholar PubMed

Haynes, B. F., Hale, L. P.The human thymus: a chimeric organ comprised of central and peripheral lymphoid components. Immunol Res 1998; 18: 175–192CrossRef Google Scholar PubMed

Webber, S. A., Hatchwell, E., Barber, J. C., et al.Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr 1996; 129: 26–32CrossRef Google Scholar PubMed

Gong, W., Emanuel, B. S., Collins, J., et al.A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet 1996; 5: 789–800CrossRef Google Scholar PubMed

Driscoll, D. A., Sullivan, K. E. DiGeorge syndrome: a chromosome 22q11.2 deletion syndrome. In Ochs, H. D., Smith, C. I. E., Puck, J. M., ed. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford: Oxford University Press, 1999: 198–208Google Scholar

Lipson, A., Fagan, K., Colley, A., et al.Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13: implications for cytogenetics and molecular biology. Am J Med Genet 1996; 65: 304–3083.0.CO;2-Y>CrossRef Google Scholar

Schuffenhauer, S., Seidel, H., Oechsler, H., et al.DiGeorge syndrome and partial monosomy 10p: case report and review. Ann Genet 1995; 38: 162–167Google Scholar PubMed

Daw, S. C., Taylor, C., Kraman, M., et al.A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 1996; 13: 458–460CrossRef Google Scholar PubMed

Stephan, J. L., Vlekova, V., Deist, F., et al.Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993; 123: 564–572CrossRef Google Scholar PubMed

Uhr, J. W.Delayed hypersensitivity. Physiol Rev 1966; 46: 359–419CrossRef Google Scholar PubMed

Harville, T. O., Adams, D. M., Howard, T. A., Ware, R. E.Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome. J Clin Immunol 1997; 17: 322–332CrossRef Google Scholar PubMed

Fischer, A.Primary T-cell immunodeficiencies. Curr Opin Immunol 1993; 5: 569–578CrossRef Google Scholar PubMed

Hershfield, M. S.Adenosine deaminase deficiency: clinical expression, molecular basis, and therapy. Semin Hematol 1998; 35: 291–298Google Scholar PubMed

Parolini, O., Ressmann, G., Haas, O. A., et al.X-linked Wiskott–Aldrich syndrome in a girl. N Engl J Med 1998; 338: 291–295CrossRef Google Scholar

Hershfield, M. S., Buckley, R. H., Greenberg, M. L., et al.Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase. N Engl J Med 1987; 316: 589–596CrossRef Google Scholar PubMed

Hershfield, M. S.PEG-ADA replacement therapy for adenosine deaminase deficiency: an update after 8.5 years. Clin Immunol Immunopathol 1995; 76: S228–S232CrossRef Google Scholar PubMed

Hershfield, M. S.PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat 1995; 5: 107–112CrossRef Google Scholar PubMed

Cavazzana-Calvo, M., Hacein-Bey, S., Saint Basile, G., et al.Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 2000; 288: 669–672CrossRef Google Scholar PubMed

Hacein-Bey-Abina, S., 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: 1185–1193CrossRef Google Scholar PubMed

Recommendations for use of antiretroviral drugs in pregnant HIV-1-infected women for maternal health and interventions to reduce perinatal HIV-1 transmission in the United States. Morb Mortal Wkly Rep 2002: 1–46

Connor, E. M., Sperling, R. S., Gelber, R., et al.Reduction of maternal-infant transmission of human immunodeficiency virus type 1 with zidovudine treatment. Pediatric AIDS Clinical Trials Group Protocol 076 Study Group. N Engl J Med 1994; 331: 1173–1180CrossRef Google Scholar PubMed

Centers for Disease Control and Prevention. Revised classification system for human immunodeficiency virus infection in children less than 13 years of age. Morbid Mortal Wkly Rep 1994; 43: 1–12

Sleasman, J. W., Kahler, D.Antiretroviral Therapy in Children: HIV/AIDS Primary Care Guide 2002. Gainesville, FL: University of Florida Press, 2002Google Scholar

Sleasman, J. W.The impact of antiretroviral therapy on the treatment and prevention of pediatric HIV infection. Current Treatment Options in Infectious Diseases 1999; 2: 109–113Google Scholar

Scott, G. B., SJ. Pediatric HIV Infection: HIV/AIDS Primary Care Guide. Gainesville, FL: University of Florida Press, 1999

Ross, S. C., Densen, P.Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. Medicine (Baltimore) 1984; 63: 243–273CrossRef Google Scholar

Miller, M. E., Koblenzer, P. J.Leiner's disease and deficiency of C5. J Pediatr 1972; 80: 879–880CrossRef Google Scholar PubMed

Book contents

12 - Immunodeficiency diseases of the neonate

Summary

Access options

References

Save book to Kindle

Save book to Dropbox

Save book to Google Drive