KEGG   DISEASE: Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Entry
H01743                      Disease                                

Name
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Description
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease caracterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic disorder of PLCG2-associated antibody deficiency and immune dysregulation (PLAID) with some overlapping features. A recent study demonstrated that a family with an autoinflammatory disease was found to have point mutations in the same CSH2 domain of PLCG2. The patients identified with APLAID developed recurrent sinopulmonary infections presumably due to a lack of class-switched memory B cells on lymphocyte immunophenotyping. The patients were partially responsive to anakinra and to high-dose corticosteroids.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H01743  Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H01743  Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Pathway
hsa04064  NF-kappa B signaling pathway
Gene
PLCG2 [HSA:5336] [KO:K05859]
Other DBs
ICD-11: 4A60.Y
ICD-10: D89.8
OMIM: 614878
Reference
  Authors
Almeida de Jesus A, Goldbach-Mansky R
  Title
Monogenic autoinflammatory diseases: concept and clinical manifestations.
  Journal
Clin Immunol 147:155-74 (2013)
DOI:10.1016/j.clim.2013.03.016
Reference
  Authors
Milner JD
  Title
PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes.
  Journal
J Clin Immunol 35:527-30 (2015)
DOI:10.1007/s10875-015-0177-x
Reference
  Authors
Milner JD, Holland SM
  Title
The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.
  Journal
Nat Rev Immunol 13:635-48 (2013)
DOI:10.1038/nri3493
Reference
  Authors
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I
  Title
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
  Journal
Am J Hum Genet 91:713-20 (2012)
DOI:10.1016/j.ajhg.2012.08.006
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