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auto-immuun lymfoproliferatief syndroom met recidiverende virale infectie (aandoening)
auto-immuun lymfoproliferatief syndroom met recidiverende virale infectie
CEDS
caspase 8-deficiƫntiesyndroom
ALPS met recidiverende virale infectieziekte
Autoimmune lymphoproliferative syndrome with recurrent viral infection
Caspase 8 deficiency syndrome
A rare genetic disorder with characteristics of lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. Prevalence of this disorder is not known. It is extremely rare with four individuals in one family identified to date. Development is reported to be normal in affected patients. Clinical signs include lymphadenopathy and splenomegaly, and development of recurrent sinopulmonary and significant mucocutaneous infections with the Herpes zoster and Herpes simplex viruses. The disorder is caused by germline homozygous mutations in the CASP8 gene (2q33-q34) involved in the execution phase of cell apoptosis. Carriers with a normal copy of the gene are asymptomatic. Biologically this syndrome has manifestations of slightly elevated double-negative T cells (DNTs) and defective Fas-mediated apoptosis of B, T, and NK lymphocytes. The pattern of inheritance appears to be autosomal recessive.
Id722290008
StatusPrimitive
Pathological processafwijkend immuunproces
Associated morphologyimmunoproliferatieve morfologie
referentieset met complexe 'mapping' naar ICD-10
TargetD47.9
RuleTRUE
AdviceALWAYS D47.9 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | POSSIBLE REQUIREMENT FOR MORPHOLOGY CODE
CorrelationSNOMED CT source code to target map code correlation not specified