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Severe combined immunodeficiency due to CARD11 deficiency
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Persistent polyclonal B-cell lymphocytosis
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
MALT lymphoma
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal dominant hypohidrotic ectodermal dysplasia
B-cell chronic lymphocytic leukemia
Cerebellar ataxia - hypogonadism
Mantle cell lymphoma
Multiple myeloma
Combined immunodeficiency due to ZAP70 deficiency
Synonym(s):
- SCID due to CARD11 deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CARD11 Q9BXL7607210
No signs/symptoms info available.