X-linked severe combined immunodeficiency
X-linked severe combined immunodeficiency disease and the gamma c receptor component: prospects for molecular diagnosis.
... The role of interleukin-2 (IL-2) in immune function has been studied extensively. Cellular receptors for IL-2 (IL-2R) on lymphocytes and certain other cells have been characterized and are responsible for transmitting ...
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Female germ line mosaicism as the origin of a unique IL 2 receptor gamma chain mutation causing X linked severe combined immunodeficiency
... Rapid Publication Female Germ Line Mosaicism as the Origin of a Unique IL-2 Receptor Y-Chain Mutation Causing X-linked Severe Combined Immunodeficiency Jennifer M.. Pepper,* Pierre-Miche[r] ...
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Acute monocytic leukemia in a dog with X-linked severe combined immunodeficiency.
... We describe the occurrence of acute monocytic leukemia in a dog with X-linked severe combined immunodeficiency (XSCID) that had been raised in a gnotobiotic environment for 20 months.. T[r] ...
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Carrier detection in X linked severe combined immunodeficiency based on patterns of X chromosome inactivation
... whose X chromosome bearing the XSCID mutation was inactivated early in ...inactive X chromosomes and restriction fragment length polymorphisms to distinguish them, we have determined the lymphocyte X ...
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T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency
... EF1a: Elongation factor 1 alpha; HSC: Hematopoietic stem cell; HSCT: Hematopoietic stem cell transplantation; IL2RG: Interleukin 2 receptor subunit gamma; LTR: Long terminal repeats; MLV[r] ...
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Shared gamma(c) subunit within the human interleukin 7 receptor complex A molecular basis for the pathogenesis of X linked severe combined immunodeficiency
... A). These chimeric receptor subunits were evaluated for their abilities to recapitulate IL-7 receptor signaling, specifically through the JAK-STAT pathway. Stable transfectants express- ing EPO7 or EPOg were established ...
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Molecular and cellular studies of X-linked severe combined immunodeficiency
... of X-linked SCID is, as described in Section ...less severe phenotypes associated with intracellular missense mutations or splice site mutations of the Yc gene (DiSanto et a l, 1994b; Schmalstieg et ...
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Molecular analysis and gene therapy of X-linked severe combined immunodeficiency
... for X SCID using any retroviral transduction system , the transduction protocol must be capable o f restoring T-lym phopoiesis and N K cell developm ent in vitro and in ...f X SCID haem atopoietic cells ...
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X linked severe combined immunodeficiency Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings
... with severe combined immunodeficiency (SCID) of unknown genetic etiology are males, yet less than a third of these affected males have a family history of X- linked ...the ...
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Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X linked combined immunodeficiency
... immunodeficiency disease (XCID) suggested that XCID and X-linked severe combined immunodeficiency (XSCID) might arise from different genetic defects. The recent discovery of ...
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Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency
... prevent severe Mycobacterium tuberculosis ...primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden ...with X-linked severe ...
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Spectrum of primary immunodeficiency disorders in Sri Lanka
... identify x linked severe combined immune deficiency, and X linked agammaglobulinemia was confirmed by assaying for Btk mutations by single sequence conformation ...
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Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians’ perspectives in the endgame plan for polio eradication
... had severe combined immunodeficiency (two with acute flaccid paralysis, one with meningoen- cephalitis and two without neurological manifestations), and one patient had X-linked ...
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A novel X linked combined immunodeficiency disease
... novel X-linked combined immunodeficiency disease was found in five living males in an extended family in the United ...pneumonia; severe varicella; and ...
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Genetic study of a new X linked recessive immunodeficiency syndrome
... XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and ...
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Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs
... Pigs are considered to be a leading large animal model in biomedical research because they share similar anat- omy and physiology with humans [26]. Various pig models have been generated to study human diseases such as ...
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The genetic basis of severe combined immunodeficiency and its variants
... induces expression of IL-2 and other cytokines. The clini- cal phenotypes of the ORAI1 defect and of the STIM defect are similar. Mutations in ORAI1 on chromosome 12q24 and STIM1 on chromosome 11q15.5 appear to have AR ...
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Gene therapy for severe combined immunodeficiency: are we there yet?
... Inherited and acquired diseases of the hematopoietic system can be cured by allogeneic hematopoietic stem cell transplantation. This treatment strategy is highly successful when an HLA-matched sibling donor is available, ...
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Defective expression of p56lck in an infant with severe combined immunodeficiency
... The T cell antigen receptor (TCR) plays a crucial role in thymocyte differentiation and T cell activation (10, 11). After antigen binding to the TCR, and in concert with engagement of other coreceptors and their ...
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Novel RAG1 Mutation in a Case of Severe Combined Immunodeficiency
... The patient presented with pneumonitis, which led to progressively deteriorating respiratory dis- tress that improved gradually with corticosteroid treatment. Other than the episode of pneumonitis, the patient had no ...
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