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Recognition of immunodeficiency in the newborn period

Authors
E Richard Stiehm, MD
Tim Niehues, MD
Ofer Levy, MD, PhD
Section Editor
Francisco A Bonilla, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS

INTRODUCTION

At birth, the newborn acutely faces an environment swarming with microbes. The normal newborn’s immune system is anatomically intact, antigenically naïve, and demonstrates somewhat reduced function of several immune pathways. Reduced proinflammatory responses may facilitate the transition from the normally sterile intrauterine environment to the outside world, including colonization with the commensal microbiome [1,2]. Apart from anatomic characteristics (eg, thin mucosal barriers), impaired proinflammatory and T helper cell type 1 (Th1) cytokine production and diminished cell-mediated immunity render the newborn more vulnerable to infection. However, most infants survive this period without illness due to intact innate immunity, other adaptive defense mechanisms, and maternally transferred immunoglobulin G (IgG).

Some newborns inherit a genetic immune defect that manifests at birth or early infancy, termed primary immunodeficiency (PID). PIDs are collectively relatively common, occurring in up to approximately 1 in every 1200 individuals [3]. The incidence of severe combined immunodeficiency (SCID) and other PIDs are reviewed in detail separately in the appropriate topics. (See "Newborn screening for primary immunodeficiencies" and "Severe combined immunodeficiency (SCID): An overview", section on 'Epidemiology'.)

This topic is an overview of the presentation and identification of the general types of immune defects in the newborn/neonate (infants within the first 28 days of life) and young infant (up to three months of age), including primary and secondary immunodeficiencies. It also covers initial management and when to refer to an immunology specialist. The diagnosis of specific immunodeficiencies is discussed separately in topic reviews on the individual disorders, as is a detailed discussion of the laboratory evaluation of the immune system, including more advanced studies. The evaluation of the child with recurrent infections is also covered separately. (See "Laboratory evaluation of the immune system" and "Approach to the child with recurrent infections".)

The development of the immune system and normal newborn immunity are discussed in detail separately. (See "The development of immune cells in the fetus and neonate" and "Immunity of the newborn".)

RISK FACTORS FOR IMMUNODEFICIENCY AND INFECTION

Factors that increase the likelihood of giving birth to a infant with an immunodeficiency include genetic factors leading to primary immunodeficiencies (PIDs) and multiple other factors that can lead to secondary immunodeficiency (eg, immaturity, infection, maternal illness, medications, anatomic abnormalities).

                      

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Literature review current through: Nov 2016. | This topic last updated: Fri Jul 31 00:00:00 GMT+00:00 2015.
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References
Top
  1. Kollmann TR, Levy O, Montgomery RR, Goriely S. Innate immune function by Toll-like receptors: distinct responses in newborns and the elderly. Immunity 2012; 37:771.
  2. Dowling DJ, Levy O. Ontogeny of early life immunity. Trends Immunol 2014; 35:299.
  3. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007; 27:497.
  4. Subbarayan A, Colarusso G, Hughes SM, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics 2011; 127:810.
  5. Carlo WA. The high-risk infant. In: Nelson Textbook of Pediatrics, 20th ed., Kleigman RM, Stanton BMD, St. Geme J, Schor NF. (Eds), Elsevier, Philadelphia 2016. p.818.
  6. Carlo WA, Ambalayanan N. High-risk pregnancies. In: Kleigman RM, Stanton BMD, St. Geme J, Schor NF, 20th ed., Nelson Textbook of Pediatrics. (Ed), Elsevier, Philadelphia 2016. p.802.
  7. Esposito S, Bosis S, Morlacchi L, et al. Can infants be protected by means of maternal vaccination? Clin Microbiol Infect 2012; 18 Suppl 5:85.
  8. Del Vecchio A, Christensen RD. Neonatal neutropenia: what diagnostic evaluation is needed and when is treatment recommended? Early Hum Dev 2012; 88 Suppl 2:S19.
  9. Deering RP, Orange JS. Development of a clinical assay to evaluate toll-like receptor function. Clin Vaccine Immunol 2006; 13:68.
  10. Denny T, Yogev R, Gelman R, et al. Lymphocyte subsets in healthy children during the first 5 years of life. JAMA 1992; 267:1484.
  11. Erkeller-Yuksel FM, Deneys V, Yuksel B, et al. Age-related changes in human blood lymphocyte subpopulations. J Pediatr 1992; 120:216.
  12. Stiehm ER, Ochs HD, Winkelstein JA. Immunodeficiency disorders: General considerations. In: Immunologic disorders in Infants and Children, 5th ed, Stiehm ER, Ochs HD, Winkelstein JA (Eds), Elsevier, Philadelphia 2005. p.311.
  13. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol 2012; 129:607.
  14. 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; 132:140.
  15. Bousfiha AA, Jeddane L, Ailal F, et al. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol 2013; 33:1078.
  16. Cates KL, Goetz C, Rosenberg N, et al. Longitudinal development of specific and functional antibody in very low birth weight premature infants. Pediatr Res 1988; 23:14.
  17. Sharma AA, Jen R, Butler A, Lavoie PM. The developing human preterm neonatal immune system: a case for more research in this area. Clin Immunol 2012; 145:61.
  18. D'Angio CT. Active immunization of premature and low birth-weight infants: a review of immunogenicity, efficacy, and tolerability. Paediatr Drugs 2007; 9:17.
  19. Cates KL, Rowe JC, Ballow M. The premature infant as a compromised host. Curr Probl Pediatr 1983; 13:1.
  20. Ballow M, Cates KL, Rowe JC, et al. 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.
  21. Ballow M, Cates KL, Rowe JC, et al. Peripheral blood T-cell subpopulations in the very low birth weight (less than 1,500-g) infant. Am J Hematol 1987; 24:85.
  22. Thorne SA, Hooper J, Kemp M, Somerville J. Gastro-intestinal protein loss in late survivors of Fontan surgery and other congenital heart disease. Eur Heart J 1998; 19:514.
  23. Rocha G. Pleural effusions in the neonate. Curr Opin Pulm Med 2007; 13:305.
  24. Karagol BS, Zenciroglu A, Gokce S, et al. Therapeutic management of neonatal chylous ascites: report of a case and review of the literature. Acta Paediatr 2010; 99:1307.
  25. Foo NH, Hwang YS, Lin CC, Tsai WH. Congenital chylothorax in a late preterm infant and successful treatment with octreotide. Pediatr Neonatol 2011; 52:297.
  26. Mehrazma M, Otukesh H, Madani A, et al. Histopathologic and clinical findings of congenital nephrotic syndrome in Iranian children: a study of two centers. Iran J Kidney Dis 2012; 6:426.
  27. Kobayashi RH, Hyman CJ, Stiehm ER. Immunologic maturation in an infant born to a mother with agammaglobulinemia. Am J Dis Child 1980; 134:942.
  28. Kavelaars A, van der Pompe G, Bakker JM, et al. Altered immune function in human newborns after prenatal administration of betamethasone: enhanced natural killer cell activity and decreased T cell proliferation in cord blood. Pediatr Res 1999; 45:306.
  29. Klink DT, van Elburg RM, Schreurs MW, van Well GT. Rituximab administration in third trimester of pregnancy suppresses neonatal B-cell development. Clin Dev Immunol 2008; 2008:271363.
  30. Ameratunga R, Chen CJ, Koopmans W, et al. Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. J Clin Immunol 2014; 34:796.
  31. Ville Y, Leruez-Ville M. Managing infections in pregnancy. Curr Opin Infect Dis 2014; 27:251.
  32. Ammann AJ, Wara DW, Cowan MJ, et al. The DiGeorge syndrome and the fetal alcohol syndrome. Am J Dis Child 1982; 136:906.
  33. Dentici ML, Placidi S, Francalanci P, et al. Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother. Cardiol Young 2013; 23:14.
  34. Cipe FE, Doğu F, Güloğlu D, et al. B-cell subsets in patients with transient hypogammaglobulinemia of infancy, partial IgA deficiency, and selective IgM deficiency. J Investig Allergol Clin Immunol 2013; 23:94.
  35. Picard C, von Bernuth H, Ghandil P, et al. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency. Medicine (Baltimore) 2010; 89:403.
  36. Mahmoudi M, Mollnes TE, Kuijpers T, et al. Complement deficiencies. In: Primary Immunodeficiency Diseases - Definition, Diagnosis, and Management, Rezaei N, Aghamohammadi A, Notarangelo L (Eds), Springer, Berlin 2008. p.235.