Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation

Preferred Label : Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation;

NCIt synonyms : Type 3 ALPS; ALPS-U; Autoimmune Lymphoproliferative Syndrome-Undetermined variant; ALPS-Unknown Underlying Mutation; Type 3 Autoimmune Lymphoproliferative Syndrome; Autoimmune Lymphoproliferative Syndrome with Unknown Underlying Mutation;

NCIt definition : A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.;

Details

Origin ID

C39577;

UMLS CUI

C1519711;

Automatic exact mappings (from CISMeF team)
- Autoimmune lymphoproliferative syndrome, type III [OMIM Phenotype]
Currated CISMeF NLP mapping
- autoimmune lymphoproliferative syndrome type 3 [DO Concept]
- autoimmune lymphoproliferative syndrome type III [Disease (Nov.)]
Disease may have findings
- Hepatomegaly [NCIt concept]
- Interleukin-10 Overexpression [NCIt concept]
- Lymphadenopathy [NCIt concept]
- Splenomegaly [NCIt concept]
- Thrombocytopenia [NCIt concept]
Has associated anatomic sites
- Immune System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autoimmune lymphoproliferative syndrome type 3 [DO Concept]
- autoimmune lymphoproliferative syndrome type III [Disease (Nov.)]
disease_excludes_molecular_abnormality
- CASP10 Gene Mutation [NCIt concept]
- CASP8 Gene Mutation [NCIt concept]
- FADD Gene Mutation [NCIt concept]
- FAS Gene Mutation [NCIt concept]
- FASLG Gene Mutation [NCIt concept]
disease_has_abnormal_cell
- Reactive Lymphocyte [NCIt concept]
disease_has_normal_cell_origin
- Lymphocyte [NCIt concept]
disease_may_have_abnormal_cell
- Atypical Lymphocyte [NCIt concept]
disease_may_have_associated_disease
- Anemia [NCIt concept]
- Autoimmune Disease [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome-Related Lymphoma [NCIt concept]
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
- Rosai-Dorfman-Destombes Disease [NCIt concept]

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