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FADD-gerelateerde immunodeficiëntie (aandoening)
FADD-gerelateerde immunodeficiëntie
immuundeficiëntie door mutatie van 'FAS-associated protein with death domain'-gen
FADD-gerelateerde immuundeficiëntie
FADD-related immunodeficiency
Immunodeficiency due to mutation of FAS-associated protein with death domain gene
FADD (FAS-associated protein with death domain) related immunodeficiency
A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis) and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
Id723334006
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified