Severe combined immunodeficiency in an infant with multiple congenital abnormalities

• Published in: Journal of allergy and clinical immunology Vol. 103; no. 6; pp. 1222 - 1223
• Main Authors: Tangsinmankong, Nutthapong, Day, Noorbibi K., Nelson, Robert P., Puck, Jennifer, Good, Robert A.
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.06.1999; Elsevier
• Subjects: Abnormalities, Multiple - immunology; adenosine deaminase; B-Lymphocytes - cytology; Biological and medical sciences; Complex syndromes; Humans; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunopathology; Immunophenotyping; Infant, Newborn; Lymphocyte Count; Male; Medical genetics; Medical sciences; RAG1 gene; RAG2 gene; Severe Combined Immunodeficiency - complications; Severe Combined Immunodeficiency - genetics; T-Lymphocytes - cytology; IDM; Jak3; SCID; ADA; Human; Immunopathology; Congenital; Diabetes mellitus; Congenital disease; Genetic disease; Case study; Pregnancy; Newborn diseases; Newborn; Mother; Malformation; Combined immune deficiency; Complex syndrome
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/S0091-6749(99)70207-1

Subjects with severe combined immunodeficiency (SCID) exhibit profound deficiencies of T- and B-cell functions and early fatality in the absence of immune reconstitution, such as bone marrow transplantation. The genetic and molecular bases of SCID include mutations in genes encoding recombinase-activating gene-1 and -2, adenosine deaminase (ADA), Janus kinase 3 (Jak3), zeta -associated protein-70, and the IL-2 gamma -chain. In other SCID syndromes, the molecular bases remain unknown.