Autosomal recessive hereditary disorder
Combined immunodeficiency disease
Hereditary cancer-predisposing syndrome
Lymphoproliferative disorder
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Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency (disorder)
Combined immunodeficiency due to ITK deficiency
Combined immunodeficiency due to IL2 inducible T cell kinase deficiency
Combined immunodeficiency due to interleukin-2 inducible T cell kinase deficiency
Autosomal recessive lymphoproliferative disease due to ITK deficiency
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes, lymphadenopathies, and hepatosplenomegaly, accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.
Id1186714005
StatusPrimitive
Associated morphologyLymphoproliferative disorder
Pathological processDysregulated host response
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetD82.3
RuleTRUE
AdviceALWAYS D82.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified