Details of Disease | DrugMAP

General Information of Disease (ID: DISG0DNJ)

Disease Name	Autoimmune lymphoproliferative syndrome type 2A
Synonyms	autoimmune lymphoproliferative syndrome, type IIA; autoimmune lymphoproliferative syndrome, type 2A; autoimmune lymphoproliferative syndrome, type 2; autoimmune lymphoproliferative syndrome caused by mutation in CASP10; autoimmune lymphoproliferative syndrome type IIA; autoimmune lymphoproliferative syndrome-CASP10 variant; ALPS-CASP10; autoimmune lymphoproliferative syndrome, type II; ALPS2A; CASP10 autoimmune lymphoproliferative syndrome; type 2 autoimmune lymphoproliferative syndrome; type 2 ALPS
Definition	A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. 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.
Disease Hierarchy	DISUG5ES: Autoimmune lymphoproliferative syndrome DISG0DNJ: Autoimmune lymphoproliferative syndrome type 2A
Disease Identifiers	MONDO ID MONDO_0011383 MESH ID C565833 UMLS CUI C1858968 OMIM ID 603909 MedGen ID 349065

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CASP10	TTX5HEK	Strong	Autosomal dominant	[1]
CASP10	TTX5HEK	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASP10	OTE6J88E	Strong	Autosomal dominant	[1]
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References

1	Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. Hum Genet. 2006 Apr;119(3):284-94. doi: 10.1007/s00439-006-0138-9. Epub 2006 Jan 31.
2	Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.Int J Immunogenet. 2011 Aug;38(4):287-93. doi: 10.1111/j.1744-313X.2011.01005.x. Epub 2011 Mar 7.