PMID- 33499153
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210316
IS  - 2227-9067 (Print)
IS  - 2227-9067 (Electronic)
IS  - 2227-9067 (Linking)
VI  - 8
IP  - 2
DP  - 2021 Jan 22
TI  - Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.
LID - 10.3390/children8020075 [doi]
LID - 75
AB  - Behcet's disease (BD) is a chronic inflammatory disease with multisystemic 
      involvement. Its etiology is considered to involve complex environmental and 
      genetic factors. Several susceptibility genes for BD, such as human leukocyte 
      antigen (HLA)-A26, IL23R-IL12RB2, IL10 and ERAP1, in addition to the well-studied 
      HLA-B51, were mainly identified by genome-wide association studies. A 
      heterozygous mutation in TNFAIP3, which leads to A20 haploinsufficiency, was 
      found to cause an early-onset autoinflammatory disease resembling BD in 2016. 
      Several monogenic diseases associated with primary immunodeficiency disease and 
      trisomy 8 have recently been reported to display BD-like phenotypes. Among the 
      genes causing these diseases, TNFAIP3, NEMO, RELA, NFKB1 and TNFRSF1A are 
      involved in the NF-kappaB (nuclear factor kappa light-chain enhancer of activated B 
      cells) signaling pathway, indicating that this pathway plays an important role in 
      the pathogenesis of BD. Because appropriate treatment may vary depending on the 
      disease, analyzing the genetic background of patients with such diseases is 
      expected to help elucidate the etiology of pediatric BD and assist with its 
      treatment. Here, we summarize recently emerging knowledge about genetic 
      predisposition to BD.
FAU - Shiraki, Mayuka
AU  - Shiraki M
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 
      501-1194, Japan.
FAU - Kadowaki, Saori
AU  - Kadowaki S
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 
      501-1194, Japan.
FAU - Kadowaki, Tomonori
AU  - Kadowaki T
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 
      501-1194, Japan.
AD  - Department of Pediatrics, National Hospital Organization, Nagara Medical Center, 
      Gifu 502-8558, Japan.
FAU - Kawamoto, Norio
AU  - Kawamoto N
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 
      501-1194, Japan.
FAU - Ohnishi, Hidenori
AU  - Ohnishi H
AUID- ORCID: 0000-0002-2890-0305
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu 
      501-1194, Japan.
AD  - Clinical Genetics Center, Gifu University Hospital, Gifu 501-1104, Japan.
LA  - eng
GR  - JP18K07840/MEXT KAKENHI/
GR  - 20316700/Health and Labour Science Research Grants for Research on Intractable 
      Diseases/
GR  - 20317089/Health and Labour Science Research Grants for Research on Intractable 
      Diseases/
GR  - JP20ek0109480/AMED/
PT  - Journal Article
PT  - Review
DEP - 20210122
PL  - Switzerland
TA  - Children (Basel)
JT  - Children (Basel, Switzerland)
JID - 101648936
PMC - PMC7911745
OTO - NOTNLM
OT  - NF-kappaB signaling pathway
OT  - TNFAIP3
OT  - autoinflammatory syndrome
OT  - pediatric Bechet's disease
OT  - primary immunodeficiency disease
COIS- The authors declare no conflict of interest.
EDAT- 2021/01/28 06:00
MHDA- 2021/01/28 06:01
PMCR- 2021/01/22
CRDT- 2021/01/27 01:08
PHST- 2020/12/13 00:00 [received]
PHST- 2021/01/19 00:00 [revised]
PHST- 2021/01/19 00:00 [accepted]
PHST- 2021/01/27 01:08 [entrez]
PHST- 2021/01/28 06:00 [pubmed]
PHST- 2021/01/28 06:01 [medline]
PHST- 2021/01/22 00:00 [pmc-release]
AID - children8020075 [pii]
AID - children-08-00075 [pii]
AID - 10.3390/children8020075 [doi]
PST - epublish
SO  - Children (Basel). 2021 Jan 22;8(2):75. doi: 10.3390/children8020075.