JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.
By T. Chatila, F. Blaeser, N. Ho, H. Lederman, Constantine Voulgaropoulos, C. Helms, A. Bowcock. Journal of Clinical Investigation, 2000
991 citations recorded by the source corpus.
X-linked autoimmunity-allergic disregulation syndrome (XLAAD) is an X-linked recessive immunological disorder characterized by multisystem autoimmunity, particularly early-onset type 1 diabetes mellitus, associated with manifestations of severe atopy including eczema, food allergy, and eosinophilic inflammation. Consistent with the allergic phenotype, analysis of two kindreds with XLAAD revealed marked skewing of patient T lymphocytes toward the Th2 phenotype. Using a positional-candidate approach, we have identified in both kindreds mutations in JM2, a gene on Xp11.23 that encodes a fork head domain-containing protein. One point mutation at a splice junction site results in transcripts that encode a truncated protein lacking the fork head homology domain. The other mutation involves an in-frame, 3-bp deletion that is predicted to impair the function of a leucine zipper dimerization domain. Our results point to a critical role for JM2 in self tolerance and Th cell differentiation.
Subfields: Endocrinology, Diabetes and Metabolism, Immunology
View Paper: https://www.semanticscholar.org/paper/2204fd7bd58052f7e9d2e0f47a962f7b25bb2a9d
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In Endocrinology, Diabetes and Metabolism
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Citations in the corpus
- An essential role for Scurfin in CD4+CD25+ T regulatory cells (2003, background): “Mutations in the orthologous human gene cause a similar lymphoproliferative disorder in affected male progeny, which is generally fata”
- Control of regulatory T cell lineage commitment and maintenance (2009, background): “…identify the genetic basis for the autoimmune disorder in human patients suffering from IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome and in the spontaneous mouse mutant scurfy (Bennett et al., 2001; Brunkow et al., 2001; Chatila et al., 2000; Wildin et al., 2001).”
- Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells. (2004, background): “polymorphism of FOXP3 may contribute to determining genetic susceptibility to autoimmune disease including type 1 diabetes by affecting the development and functions of CD25+CD4+ TR cells ( 19 , 40, 41).”
- Foxp3 programs the development and function of CD4+CD25+ regulatory T cells (2003, background): “Similarly, the aggressive, fatal, autoimmune human syndrome X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy (IPEX) has been mapped to multiple mutations in the human homolog of Foxp3”