Autosomal recessive hereditary disorder
Primary immune deficiency disorder
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Immunodeficiency due to CD25 deficiency (disorder)
Immunodeficiency due to CD25 deficiency
Interleukin-2 receptor alpha chain deficiency
A rare genetic primary immunodeficiency due to a defect in adaptive immunity disorder with characteristics of severe immunodeficiency. The disease presents with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease such as alopecia universalis, erythrodermia and autoimmune thyroiditis and enteropathy. Caused by homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.
immunodeficiëntie door CD25-deficiëntie
interleukine-2-receptor-alfa-ketendeficiëntie
Id778028008
StatusPrimitive
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD81.2
RuleTRUE
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified