Details of Disease

General Information of Disease (ID: DIS7EXGM)

Disease Name Autoimmune lymphoproliferative syndrome type 2B
Synonyms
autoimmune lymphoproliferative syndrome, type 2B; Ceds; caspase-8 deficiency; autoimmune lymphoproliferative syndrome, type IIB; caspase eight deficiency state; autoimmune lymphoproliferative syndrome with recurrent viral infections; CASP8 autoimmune lymphoproliferative syndrome; autoimmune lymphoproliferative syndrome type IIB; caspase 8 deficiency; ALPS2B; ALPS with recurrent viral infections; caspase 8 deficiency syndrome; autoimmune lymphoproliferative syndrome caused by mutation in CASP8; CEDS
Definition
Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
Disease Hierarchy
DISUG5ES: Autoimmune lymphoproliferative syndrome
DIS7EXGM: Autoimmune lymphoproliferative syndrome type 2B
Disease Identifiers
MONDO ID
MONDO_0011804
MESH ID
D056735
UMLS CUI
C1846545
OMIM ID
607271
MedGen ID
339548
Orphanet ID
275517
SNOMED CT ID
722290008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CASP10 TTX5HEK Strong Altered Expression [1]
CASP8 TTEVCT0 Strong Autosomal recessive [2]
CASP8 TT6SZNG Strong Biomarker [3]
FAS TT7LTUJ Strong Biomarker [4]
NRAS TTW2R9X Strong Altered Expression [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CASP8 OTA8TVI8 Strong Autosomal recessive [2]
COL1A1 OTI31178 Strong Genetic Variation [5]
COL5A1 OT24078H Strong Biomarker [6]
COL5A2 OT5VOSQE Strong Biomarker [7]
FADD OTV7GFHH Strong Altered Expression [3]
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References

1 The technological transformation of patient-driven human immunology research.Immunol Res. 2009;43(1-3):167-71. doi: 10.1007/s12026-008-8062-9.
2 [Effect of feto-maternal immunization on the course of pregnancy]. Ginekol Pol. 1979;Suppl:79-81.
3 Redundant and receptor-specific activities of TRADD, RIPK1 and FADD in death receptor signaling.Cell Death Dis. 2019 Feb 11;10(2):122. doi: 10.1038/s41419-019-1396-5.
4 The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.J Clin Immunol. 2018 Jul;38(5):558-568. doi: 10.1007/s10875-018-0523-x. Epub 2018 Jun 17.
5 Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Am J Med Genet A. 2017 Feb;173(2):524-530. doi: 10.1002/ajmg.a.38035. Epub 2016 Nov 7.
6 Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.Am J Hum Genet. 1997 Mar;60(3):547-54.
7 Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.Hum Mol Genet. 1998 Feb;7(2):249-55. doi: 10.1093/hmg/7.2.249.