KEGG   DISEASE: Chronic mucocutaneous ulceration
Entry
H02593                      Disease                                
Name
Chronic mucocutaneous ulceration
  Supergrp
Familial Behcet-like autoinflammatory syndrome [DS:H02592]
Inherited autoinflammatory disease [DS:H02599]
Description
Chronic mucocutaneous ulceration (CMCU) is characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA, encoding the NF-kB subunit RelA, causes CMCU.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02593  Chronic mucocutaneous ulceration
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06516  TNF signaling
   H02593  Chronic mucocutaneous ulceration
Pathway
hsa04668  TNF signaling pathway
hsa04064  NF-kappa B signaling pathway
Network
nt06516 TNF signaling
Gene
RELA [HSA:5970] [KO:K04735]
Other DBs
ICD-11: 4A60
MeSH: D012883
OMIM: 618287
Reference
PMID:28600438
  Authors
Badran YR, Dedeoglu F, Leyva Castillo JM, Bainter W, Ohsumi TK, Bousvaros A, Goldsmith JD, Geha RS, Chou J
  Title
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.
  Journal
J Exp Med 214:1937-1947 (2017)
DOI:10.1084/jem.20160724
Reference
PMID:33160483
  Authors
Nigrovic PA, Lee PY, Hoffman HM
  Title
Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.
  Journal
J Allergy Clin Immunol 146:925-937 (2020)
DOI:10.1016/j.jaci.2020.08.017
Reference
PMID:34699263
  Authors
Rood JE, Behrens EM
  Title
Inherited Autoinflammatory Syndromes.
  Journal
Annu Rev Pathol 17:227-249 (2022)
DOI:10.1146/annurev-pathmechdis-030121-041528
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