Autoimmune Lymphoproliferative Syndrome with FAS Mutation

Preferred Label : Autoimmune Lymphoproliferative Syndrome with FAS Mutation;

NCIt synonyms : Type 1a ALPS; Autoimmune Lymphoproliferative Syndrome with Germline or Somatic FAS Mutation; ALPS-FAS; Type 1a Autoimmune Lymphoproliferative Syndrome;

NCIt definition : A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but variable penetrance. It is the most common subtype of autoimmune lymphoproliferative syndrome (ALPS). It is usually caused by a germline mutation in the Fas gene that leads to defective Fas-induced apoptosis but in a minority of cases, it also may be attributed to a somatic Fas mutation. 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

C39574;

UMLS CUI

C1866119;

Currated CISMeF NLP mapping
- autoimmune lymphoproliferative syndrome type Ia [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome, type IA [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IA [MeSH concept]
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 IA [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IA [MeSH concept]
disease_has_abnormal_cell
- Reactive Lymphocyte [NCIt concept]
disease_has_molecular_abnormality
- FAS Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Lymphocyte [NCIt concept]
disease_mapped_to_gene
- FAS Gene [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]
pathogenesis_of_disease_involves_gene
- FAS Gene [NCIt concept]
- FAS wt Allele [NCIt concept]
related_to_genetic_biomarker
- FAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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