KEGG   DISEASE: Chronic mucocutaneous ulceration
Entry
H02593                      Disease                                
Name
Chronic mucocutaneous ulceration
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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