A patient with CARD9 deficiency may be at increased risk for a number of fungal infections.
CARD9 = caspase recruitment domain-containing protein 9
It is involved in the regulation of apoptosis and the activation of NF-kappaB.
Chromosomal location: 9q34.3
Inheritance of CARD9 deficiency: autosomal recessive. Affected patients are homozygous, typically with consanguineous parents.
Patients with CARD9 deficiency are at risk for:
(1) Candida meningitis
(2) chronic mucocutaneous candidiasis
(3) cutaneous dermatophytosis
(4) deep dermatophytosis
Other explanations for fungal infections should be excluded.
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Specialty: Immunology/Rheumatology, Infectious Diseases
ICD-10: ,
