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Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity
The classification described here will serve as a critical reference for immunologists and researchers worldwide and the categorization and listing of 354 inborn errors of immunity are detailed.
Regulatory T cell development in the absence of functional Foxp3
The results indicate that Treg cell effector function but not lineage commitment requires the expression of functional Foxp3 protein.
JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.
- T. Chatila, F. Blaeser, A. Bowcock
- Biology, MedicineThe Journal of clinical investigation
- 15 December 2000
The results point to a critical role for JM2 in self tolerance and Th cell differentiation, and one point mutation at a splice junction site results in transcripts that encode a truncated protein lacking the fork head homology domain.
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies
The revised 2017 phenotypic classification is proposed, based on the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification, which is more user-friendly for clinicians at the bedside.
Regulation of osteoclast differentiation and function by the CaMK-CREB pathway
The CaMKIV-CREB pathway biphasically functions to regulate the transcriptional program of osteoclastic bone resorption, by not only enhancing induction of NFATc1 but also facilitating NFAT c1-dependent gene regulation once its expression is induced.
The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor.
- G. Hershey, M. Friedrich, L. A. Esswein, M. Thomas, T. Chatila
- Medicine, BiologyThe New England journal of medicine
- 11 December 1997
The R576 allele of interleukin-4 receptor alpha is strongly associated with atopy, and this mutation may predispose persons to allergic diseases by altering the signaling function of the receptor.
Integration of calcineurin and MEF2 signals by the coactivator p300 during T‐cell apoptosis
It is reported here that NFATp synergizes with MEF2D to recruit the coactivator p300 for the transcription of Nur77, implicate NFAT as an important mediator of T‐cell apoptosis and suggest thatNFAT is capable of integrating the calcineurin signaling pathway and other pathways through direct protein–protein interaction with other transcription factors.