Reports outline severe combined immunodeficiency study results from Harvard University, Department of Pathology
2007 NOV 20 -- Current study results from the report, 'IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD,' have been published. "Severe combined immunodeficiency (SCID) may result from a variety of genetic defects that impair the development of T cells. Signaling mediated by the cytokine interleukin-7 is essential for the differentiation of T cells from lymphoid progenitors, and mutations of either the interleukin-7 receptor alpha chain (IL-7Ralpha) or its associated cytokine receptor chain, the common gamma chain (gammac), result in SCID," investigators in the United States report. "Here we report a case of SCID due to heterozygous mutations of the IL7R gene encoding IL-7Ralpha. A previously unrecognized mutation found within intron 3 created a new exon between exons 3 and 4 in the mRNA transcribed from this allele, producing a truncated, unstable mRNA. This mutation illustrates the necessity of evaluating both coding and non-coding regions of genes when searching for pathogenic mutations," wrote M.J. Butte and colleagues, Harvard University, Department of Pathology. The researchers concluded: "Following hematopoietic stem cell transplantation of our patient, immune reconstitution was accompanied by two unusual complications, immune-mediated myositis and myasthenia gravis." Butte and colleagues published their study in Clinical Immunology (IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. Clinical Immunology, 2007;125(2):159-64). For additional information, contact M.J. Butte, Harvard Medical School, Dept. of Pathology, Boston, MA 02115 USA.. The publisher of the journal Clinical Immunology can be contacted at: Academic Press Inc. Elsevier Science, 525 B St., Ste. 1900, San Diego, CA 92101-4495, USA. Keywords: United States, Boston, Autoimmune Disease, Autoimmune Disorder, Clinical Immunology, Immunology, Severe Combined Immunodeficiency. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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