1995
DOI: 10.1172/jci117765
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Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

Abstract: Clin. Invest. 1995.95:1169-1173

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Cited by 88 publications
(52 citation statements)
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“…The majority of previously characterized mutations in JAK3 or ␥ c result in SCID either by abolishing the expression of JAK3 or ␥ c or by disrupting the JAK3-␥ c interaction (2,27,32,38,40). Our study provides an alternative mechanism and suggests that disruption of the regulatory function of the JH2 domain of JAK3 can also lead to a SCID phenotype.…”
Section: Discussionmentioning
confidence: 69%
See 1 more Smart Citation
“…The majority of previously characterized mutations in JAK3 or ␥ c result in SCID either by abolishing the expression of JAK3 or ␥ c or by disrupting the JAK3-␥ c interaction (2,27,32,38,40). Our study provides an alternative mechanism and suggests that disruption of the regulatory function of the JH2 domain of JAK3 can also lead to a SCID phenotype.…”
Section: Discussionmentioning
confidence: 69%
“…It is well established that JAK3-␥ c interaction is vital for IL-2 signaling (5, 31, 37). Several naturally occurring mutations of ␥ c which affect its association with JAK3 cause X-SCID or X-linked combined immunodeficiency (32,37,40). Although our previous studies indicate that the JH2 domain of JAK3 is dispensable for receptor association (5), it was still possible that global deformity of the protein structure by the patients' specific mutations disrupted the binding of the mutant JAK3 to ␥ c and thus abolished IL-2 signaling.…”
Section: Resultsmentioning
confidence: 99%
“…thymocytes with residual nonfunctional circulating T cells, as observed in IL-2 receptor α chain deficiency, and in some leaky forms of T -B + SCID caused by mutations of JAK3 or IL2RG genes (29,30). While the contributory role of hypothetical defects of central tolerance in these immunodeficiencies remains to be assessed, we hypothesize that Omenn syndrome may constitute a paradigmatic model of pathogenesis for more common autoimmune diseases associated with impaired T cell differentiation.…”
Section: Discussionmentioning
confidence: 94%
“…The diagnosis of T-cell immunodeficiency is usually straightforward and should be confirmed by molecular genetic analysis when a patient is clinically immunodeficient and lab tests reveal an absence of T lymphocytes (16). Significant T-cell immunodeficiency should, however, be considered in clinically immunodeficient patients who present with an atypical immunologic phenotype as a result of residual autologous T cells (17,18), maternal T-cell engraftment (19), a leaky thymus with release of some T-cell clones (11), or of being part of combined immunodeficiency syndrome. In cases such as these, elaborate and intensive studies of the thymus, including assessment of recent thymic emigrant cells or analysis of the TCR repertoire, are required to estimate the severity and nature of the immune disorder (20).…”
Section: Discussionmentioning
confidence: 99%