Combined immunodeficiency due to CRAC channel dysfunction

MedGen UID:: 929240
•Concept ID:: C4303571
•: Disease or Syndrome

Synonyms:	Combined immunodeficiency due to calcium release activated calcium channel dysfunction; Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction; combined immunodeficiency due to CRAC channel dysfunction; Immune dysfunction due to T-cell inactivation due to calcium entry defect; immune dysfunction due to T-cell inactivation due to calcium entry defect; Immune dysfunction with T-cell inactivation due to calcium entry defect
SNOMED CT:	Combined immunodeficiency due to CRAC (calcium release activated calcium) channel dysfunction (717811007); Combined immunodeficiency due to CRAC channel dysfunction (717811007); Immune dysfunction with T-cell inactivation due to calcium entry defect (717811007); Combined immunodeficiency due to calcium release activated calcium channel dysfunction (717811007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0015695
Orphanet:	ORPHA169090

Definition

A form of combined immunodeficiency characterised by recurrent viral, bacterial, mycobacterial and fungal infections from birth, chronic diarrhoea, pneumonia, meningitis, enteritis, gastrointestinal candidiasis, sepsis and otitis media. All patients present with ectodermal dysplasia that is characterised by hypocalcified amelogenesis imperfecta and leads to the loss of soft dental enamel. In addition, patients present at birth with congenital myopathy, which is characterised by non-progressive generalised muscular dysplasia. Caused by mutations in the ORAI1 and STIM1 genes (12q24 and 11p15.5). Transmission is autosomal recessive. [from SNOMEDCT_US]