geïsoleerde agammaglobulinemie (aandoening)
geïsoleerde agammaglobulinemie
Isolated agammaglobulinemia
The non-syndromic form of a primary immunodeficiency disease characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. Two forms have been described: X-linked represents approximately 85% of the affected patients, and autosomal which includes recessive and dominant cases but is far less frequent. The clinical signs of the two forms are very similar and include recurrent bacterial infections, diarrhea and skin infections with onset in infancy. Defects in B lymphocyte development and maturation appear to underlie agammaglobulinemia. Mutations in seven genes have been reported to be related to IA: BTK (Xq21.33-q22), BLNK (10q23.2-q23.33), CD79A (19q13.2), CD79B (17q23), IGHM(14q32.33), IGLL1 (22q11.23), PIK3R1 (5q13.1) and TCF3 (19p13.3).
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermHereditaire hypogammaglobulinemie
SNOMED CT to Orphanet simple map229717
SNOMED CT to ICD-10 extended map
AdviceALWAYS D80.0
CorrelationSNOMED CT source code to target map code correlation not specified