Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. 1942 Mar 66

Immunodeficiency 10 is an autosomal recessive disorder presenting with iris hypoplasia, muscular hypotonia and nonprogressive myopathy, recurrent bacterial infections, autoimmune hemolytic anemia, hypohidrosis and nail dysplasia caused by the mutation of stromal interaction molecule 1 gene (STIM1). Herein, we present a new case of STIM1 mediated immunodeficiency, carrying a novel frameshift mutation. Our patient presented with nephrotic syndrome, hypotonia, myopathy, recurrent bacterial infections, thrombocytopenia and autoimmune hemolytic anemia. She is now 23 months old and is on steroid, cyclosporine and monthly IVIG. She has had no recent significant infections and is receiving rehabilitation therapy to improve her motor skills. Rare genetic syndromes should be suspected in patients of consanguineous parents, who present with a set of different manifestations. Gathering all the patient's manifestations together and looking them as one disease should be encouraged.
 ...
PMID:A novel frame shift mutation in STIM1 gene causing primary immunodeficiency. 3249 59