tab001wql: Primary T-cell immunodeficiencies

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 6; Issue 13; 2 July 2004
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Primary T-cell immunodeficiencies

Waseem Qasim, H. Bobby Gaspar and Adrian J. Thrasher

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Table 1. Primary T-cell immunodeficiencies^a
Disorder	Chromosomal localisation	Mutated gene^b	Molecular defect	Immuno-phenotype	Refs
SCID-X1	Xq13	Common g-chain	Absence of receptors for IL-2, -4, -7, -9, -15 and -21	T^-B⁺NK^-	5, 6
JAK3 deficiency	19p13	JAK3	Defect of signalling via IL-2, -4, -7, -9, -15 and -21	T^-B⁺NK^-	54
IL-7 receptor deficiency	5p13	IL-7 receptor a	Absence of IL-7 receptor a	T^-B⁺NK⁺	55
RAG-1 and -2 deficiency	11p13	RAG-1 and RAG-2	Defective VDJ recombination	T^-B^-NK⁺	12
Artemis deficiency	10p13	Artemis	Defective VDJ recombination; radiation sensitivity	T^-B^-NK⁺	13
Adenosine deaminase deficiency	20q12-13	ADA	Block in purine salvage metabolism	T^-B^-NK^+/-	9, 10
Purine nucleoside phosphorylase deficiency	14q11	PNP	Block in purine salvage metabolism	T^-B^-NK^+/-	56
T-cell receptor deficiencies	11q23	CD3 g/d/e	Defective T-cell signalling	T^+/-B⁺NK⁺	57, 58, 59
CD45 deficiency	1q31-32	CD45	Defective T- and B-cell signalling	T^-B⁺NK^-	60
^a Adapted from Ref. 2, with permission from the BMJ Publishing Group. ^b Gene products are listed. Abbreviations: ADA, adenosine deaminase; B, B cell; IL, interleukin; JAK, Janus kinase; NK, natural killer cell; PNP, purine nucleoside phosphorylase; RAG, recombination-activating gene; SCID, severe combined immunodeficiency; T, T cell.

References cited in Table 1

5 Puck, J.M. et al. (1993) The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet 2, 1099-1104, PubMed

6 Noguchi, M. et al. (1993) Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73, 147-157, PubMed

9 Giblett, E.R. et al. (1972) Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 2, 1067-1069, PubMed

10 Valerio, D. et al. (1984) Cloning of human adenosine deaminase cDNA and expression in mouse cells. Gene 31, 147-153, PubMed

12 Schwarz, K. et al. (1996) RAG mutations in human B cell-negative SCID. Science 274, 97-99, PubMed

13 Moshous, D. et al. (2001) Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105, 177-186, PubMed

54 Russell, S.M. et al. (1995) Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science 270, 797-800, PubMed

55 Puel, A. et al. (1998) Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. Nat Genet 20, 394-397, PubMed

56 Williams, S.R. et al. (1987) A human purine nucleoside phosphorylase deficiency caused by a single base change. J Biol Chem 262, 2332-2338, PubMed

57 Arnaiz-Villena, A. et al. (1992) Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. N Engl J Med 327, 529-533, PubMed

58 Dadi, H.K., Simon, A.J. and Roifman, C.M. (2003) Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. N Engl J Med 349, 1821-1828, PubMed

59 Soudais, C. et al. (1993) Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. Nat Genet 3, 77-81, PubMed

60 Kung, C. et al. (2000) Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. Nat Med 6, 343-345, PubMed

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