immunodeficiëntie door CD25-deficiëntie (aandoening)
immunodeficiëntie door CD25-deficiëntie
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.
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
Term'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen
SNOMED CT to Orphanet simple map169100
SNOMED CT to ICD-10 extended map
AdviceALWAYS D81.2
CorrelationSNOMED CT source code to target map code correlation not specified