Immune Deficiency: Severe Combined Immune Deficiency

Jintanat Ananworanich, Baylor College of Medicine, Houston, Texas, USA
William T Shearer, Baylor College of Medicine, Houston, Texas, USA

Published online: January 2003

DOI: 10.1038/npg.els.0001458

Severe combined immune deficiency (SCID) represents a diverse group of disorders caused by genetic defects in T-cell development and signalling pathways, the most common being the mutation of the interleukin-2 receptor chain leading to X-linked SCID.

Keywords: T cell; bubble boy; combined immune deficiency (CID); severe combined immune deficiency (SCID); stem cell transplantation

Figure 1. Schematic of the differentiation of haematopoietic cells. CFU-GEMM, colony-forming unit-granuloblast, erythroblast, monoblast, megakaryoblast; BFU, blast-forming unit. Modified from Lewis and Harriman (1996).
Figure 2. T-cell receptor (TCR) complex, interleukin (IL)-2 receptor and signalling transduction in a CD4+ T lymphocyte. TCR receptor complex, TCR and CD3 (, , ); MHC, major histocompatibility complex; JAK3, Janus kinase 3; DAG, diacylglycerol; IP3, inositol trisphosphate; MAP, mitogen-activated protein; MEK, mitogen-activated/extracellular receptor-regulated kinase; NFATc, NFATn, cytoplasmic and nuclear forms of nuclear factor of activated T cells; ZAP-70, zeta chain-associated protein of 70 kDa. Note: Defect causing combined immunodeficiency: IL-2c – X-linked severe combined immune deficiency (SCID); JAK3 – JAK3 SCID; CD3 – TCR complex defect; MHC II – bare lymphocyte syndrome; tyrosine kinases (lck, fyn, ZAP-70, syk) – combined immunodeficiency.
Figure 3. David at 6 years in his space suit designed by NASA space flight engineers at the Johnson Space Center in Houston, Texas.
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    book Buckley RH (1998) "Primary immunodeficiency diseases". In: Middleton E and Reed C (eds) Allergy Principles and Practice, 5th edn, pp. 713–734. St Louis: Mosby-Year Book.
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    book Le Deist F and Fischer A (1996) "Primary T cell immunodeficiencies". In: Rich RR (ed.) Clinical Immunology Principles and Practice, pp. 637–661. St Louis, MO: Mosby-Year Book
    Puck JM (1997) Primary immunodeficiency diseases. Journal of the American Medical Association 278: 1835–1841.
    book Shearer WT and Fleisher TA (1998) "Overview of immune system". In: Middleton E and Reed C (eds) Allergy Principles and Practice, 5th edn, pp. 1–13. St Louis, MO: Mosby-Year Book.
    Sugamura K, Asao H, Kondo M et al. (1996) The interleukin-2 receptor chain: its role in the multiple cytokine receptor complexes and T cell development in XSCID. Annual Review of Immunology 14: 179–205.

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Immunodeficiency | Specific Genetic Disorders
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Article Title: Immune Deficiency: Severe Combined Immune Deficiency
 
How to Cite close
Ananworanich, Jintanat, and Shearer, William T(Jan 2003) Immune Deficiency: Severe Combined Immune Deficiency. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0001458]