Abstract
Congenital immunodeficiency diseases are a group of primarily single-gene disorders of the immune system. To date, more than 300 genetic defects have been identified as responsible for congenital immunodeficiencies. Although diverse, these diseases share the common features of susceptibility to infections and result in substantial morbility and shortened life spans. The severity of congenital immunodeficiencies largely depends on the arm of the immune system affected, and being congenital many of these disorders have their clinical symptoms early in infancy. In syndromic immunodeficiencies, the defects of the immune system may not represent the major clinical problem. Most important, prompt diagnosis and treatment can lead in marked improvement in the quality and length of life and better outcome. The possibility to apply the neonatal screening test for severe combined immunodeficiency will further ameliorate patients’ outcome.
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References
Azzari C, la Marca G, Resti M (2011) Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. J Allergy Clin Immunol 127(6):1394–1399
Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T, Tangye SG, Casanova JL, Conley ME (2013) A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR-B cells. J Clin Invest 123:4781–4785
Conley ME, Dobbs AK, Farmer DM et al (2009) Primary B cell immunodeficiencies: comparisons and contrasts. Ann Rev Immunol 27:199–227
Deau MC, Heurtier L, Frange P et al (2014) A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest 124(9):3923–3928
Durandy A, Revy P, Fischer A (2007) Autosoma hyper-IgM syndromes caused by an intrinsic B cell defect. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiencies diseases. A molecular and genetic approach. Oxford University Press, New York, pp 269–278
Fischer A, Notarangelo LD (2004) Combined immunodeficiencies. In: Stiehm ER, Ochs HD, Winkelstein JA (eds) Immunologic disorders in infants and children. Elsevier, Philadelphia, pp 447–479
Geha RS, Plebani A, Notarangelo LD (2007) CD40, CD40 ligand, and the hyper IgM syndrome. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiencies diseases. A molecular and genetic approach. Oxford University Press, New York, pp 251–268
Goldmuntz E (2005) DiGeorge sindrome: new insights. Clin Perinatol 32:963–978
Hermanns P, Tran A, Munivez E et al (2006) RMRP mutations in cartilage hair hypoplasia. Am J Med Genet 140:2121–2130
Kwan A, Abraham RS, Currier R et al (2014) Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 312(7):729–738
Lougaris V, Tampella G, Baronio M et al (2014) The genetic heterogeneity of Common Variable Immunodeficiency (CVID): an update. J Vaccines Vaccin 5:223. https://doi.org/10.4172/2157-7560.1000223
Mohiuddin MS, Abbott JK, Hubbard N et al (2013) Diagnosis and evaluation of primary panhypogammaglobulinemia: a molecular and genetic challenge. J Allergy Clin Immunol 131(6):1717–1718
Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR et al (2008) Primary immune deficiency disorders presenting as autoimmune diseases IPEX and APECED. J Clin Immunol 28:S11–S19
Ochs HD, Thrasher AJ (2006) The Wiskott-Aldrich sindrome. J Allergy Clin Immunol 117:725–738
Park MA, Li JT, Hagan JB et al (2009) Common variable immunodeficiency: a new look at an old disease. Lancet 372:489–502
Rieth W, Lisowska-Grospierre B, Fischer A (2007) Molecular basis of major histocompatibility complex class II deficiency. In: Ochs HD, Smith CIE, Puck JM (eds) Primary immunodeficiencies diseases. A molecular and genetic approach. Oxford University Press, New York, pp 227–241
The International Nijmegen Breakage Syndrome Study Group (2000) Nijmegen breakage sindrome. Arch Dis Child 82:400–406
Worth AJ, Thrasher AJ (2015) Current and emerging treatment options for Wiscott-Aldrich syndrome. Expert Rev Clin Immunol 11(9):1015–1032
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Plebani, A., Chirico, G., Lougaris, V. (2018). Congenital Immunodeficiencies in Newborns. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-29489-6_247
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DOI: https://doi.org/10.1007/978-3-319-29489-6_247
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