RESEARCH - STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

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N Engl J Med. 2009 May 7;360(19):1971-80.

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

Picard C, McCarl CA, Papolos A, Khalil S, Lüthy K, Hivroz C, LeDeist

F, Rieux-Laucat F, Rechavi G, Rao A, Fischer A, Feske S.

Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris.

A mutation in ORAI1, the gene encoding the pore-forming subunit of the

Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates the

store-operated entry of Ca(2+) into cells and impairs lymphocyte

activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic

reticulum activates ORAI1-CRAC channels. We report on three siblings

from one kindred with a clinical syndrome of immunodeficiency,

hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia,

muscular hypotonia, and defective enamel dentition. Two of these

patients have a homozygous nonsense mutation in STIM1 that abrogates

expression of STIM1 and Ca(2+) influx. 2009 Massachusetts Medical

Society

PMID: 19420366

http://www.ncbi.nlm.nih.gov/pubmed/19420366

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