1990
DOI: 10.1172/jci114884
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A novel X-linked combined immunodeficiency disease.

Abstract: A novel X-linked combined immunodeficiency disease was found in five living males in an extended family in the United States. The age of the affected males ranged from 2.5 to 34 yr. The most prominent clinical abnormalities were a paucity of lymphoid tissue; recurrent sinusitis, otitis media, bronchitis, and pneumonia; severe varicella; and chronic papillomavirus infections. The principal immunologic features of the disorder were normal concentrations of serum immunoglobulins but restricted formation of IgG an… Show more

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Cited by 82 publications
(63 citation statements)
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“…Several different primary immunodeficiencies (PIDs) within both the innate and adaptive immune system have previously been recognized to predispose to infection with VZV as well as a range of other pathogens. These include disseminated VZV infection in children with SCID or NK cell defect (6)(7)(8). More recently, additional conditions conferring increased susceptibility to VZV infection have been described, including lossof-function mutations in GATA2, DOCK2, DOCK8, IFNGR1 and TYK2 (9-13).…”
Section: Identification Of Heterozygous Mutations In Polr3a and Polr3mentioning
confidence: 99%
“…Several different primary immunodeficiencies (PIDs) within both the innate and adaptive immune system have previously been recognized to predispose to infection with VZV as well as a range of other pathogens. These include disseminated VZV infection in children with SCID or NK cell defect (6)(7)(8). More recently, additional conditions conferring increased susceptibility to VZV infection have been described, including lossof-function mutations in GATA2, DOCK2, DOCK8, IFNGR1 and TYK2 (9-13).…”
Section: Identification Of Heterozygous Mutations In Polr3a and Polr3mentioning
confidence: 99%
“…It is interesting to note that human SCID patients have a different phenotype than the Jak3 or ␥c KO mice in that they lack both T and natural killer (NK) cells, but have peripheral B cells that are nonfunctional [34,35]. However, the phenotype of patients with a moderate combined immunodeficiency disease (XCID) does resemble the murine ␥c-and Jak3 -/-phenotype [36]. XCID is the result of a point mutation in the cytoplasmic tail of ␥c that diminishes, but does not abolish, Jak3 binding [37].…”
Section: Peripheral T Cells Require Jak3 To Maintain Proper Functionmentioning
confidence: 99%
“…XCID is the result of a point mutation in the cytoplasmic tail of ␥c that diminishes, but does not abolish, Jak3 binding [37]. XCID patients have about half the normal number of T cells in the periphery, and just like the Jak3-and ␥c-deficient mice, these T cells have an activated phenotype and do not proliferate in response to stimulation [36]. The most likely explanation for the difference in the T cell phenotype observed between patients with SCID and XCID is that in XCID there is sufficient function of the Jak3-␥c signaling pathway to allow for normal development of T cells in the thymus.…”
Section: Peripheral T Cells Require Jak3 To Maintain Proper Functionmentioning
confidence: 99%
“…X-SCID is diagnosed early in life, but some exceptional cases and families have been reported in which CD132 mutations resulted in an immunological phenotype distinct from classical X-SCID. [29][30][31][32][33][34] These so-called X-CID (combined immune deficiency) patients may have impaired rather than absent function of CD132. Mosaicism due to somatic gene reversion has been observed in the immune system as well as in various other disease entities.…”
Section: Introductionmentioning
confidence: 99%