combined immunodeficiency due to CRAC channel dysfunction

Summary

combined immunodeficiency due to CRAC channel dysfunction (MONDO:0015695) is a disease. A subtype of combined immunodeficiency — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 23

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		10	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0000389	Chronic otitis media	Very frequent (80-99%)
HP:0000705	Amelogenesis imperfecta	Very frequent (80-99%)
HP:0001252	Hypotonia	Very frequent (80-99%)
HP:0001287	Meningitis	Very frequent (80-99%)
HP:0001945	Fever	Very frequent (80-99%)
HP:0002090	Pneumonia	Very frequent (80-99%)
HP:0002718	Recurrent bacterial infections	Very frequent (80-99%)
HP:0002721	Immunodeficiency	Very frequent (80-99%)
HP:0002841	Recurrent fungal infections	Very frequent (80-99%)
HP:0002960	Autoimmunity	Very frequent (80-99%)
HP:0003198	Myopathy	Very frequent (80-99%)
HP:0004429	Recurrent viral infections	Very frequent (80-99%)
HP:0007676	Hypoplasia of the iris	Very frequent (80-99%)
HP:0011084	Hypocalcification of dental enamel	Very frequent (80-99%)
HP:0011274	Recurrent mycobacterial infections	Very frequent (80-99%)
HP:0100806	Sepsis	Very frequent (80-99%)
HP:0000970	Anhidrosis	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0002716	Lymphadenopathy	Frequent (30-79%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0001878	Hemolytic anemia	Occasional (5-29%)
HP:0002664	Neoplasm	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	combined immunodeficiency due to CRAC channel dysfunction
Mondo ID	MONDO:0015695
Orphanet	169090
ICD-11	1641826886
SNOMED CT	717811007
UMLS	C4303571
MedGen	929240
GARD	0017048
Is cancer (heuristic)	no

Also known as: immune dysfunction due to T-cell inactivation due to calcium entry defect

Disease family

This is a subtype of combined immunodeficiency. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › immunodeficiency disease › combined immunodeficiency › combined immunodeficiency due to CRAC channel dysfunction

Related subtypes (32): ataxia telangiectasia, combined immunodeficiency due to ZAP70 deficiency, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, combined immunodeficiency due to moesin deficiency, Wiskott-Aldrich syndrome, MHC class I deficiency, combined immunodeficiency due to STK4 deficiency, combined immunodeficiency due to MALT1 deficiency, combined immunodeficiency due to OX40 deficiency, combined immunodeficiency due to CD3gamma deficiency, combined immunodeficiency due to CTPS1 deficiency, severe combined immunodeficiency, non-SCID combined immunodeficiency, combined immunodeficiency due to RELA haploinsufficiency, combined immunodeficiency due to GINS1 deficiency, combined immunodeficiency syndrome, combined immunodeficiency due to POLE2 deficiency, autosomal recessive combined immunodeficiency due to complete IL6ST deficiency, autosomal recessive combined immunodeficiency due to partial IL6ST deficiency, autosomal dominant combined immunodeficiency due to partial IL6ST deficiency, autosomal recessive combined immunodeficiency due to IL6R deficiency, autosomal dominant combined immunodeficiency due to ERBIN deficiency, combined immunodeficiency due to TBX1 deficiency, RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome, combined immunodeficiency due to dimerization defective IKAROS mutation, late-onset combined immunodeficiency due to ICOSL deficiency, combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency, early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation, combined immunodeficiency with low Ig due to BCL10 deficiency, IRF4-related combined immunodeficiency, NFATC1-related combined immunodeficiency, POLD3-related combined immunodeficiency

Subtypes (2): combined immunodeficiency due to ORAI1 deficiency, combined immunodeficiency due to STIM1 deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.