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PLCG2-associated antibody deficiency and immune dysregulation(FACU; PLAID)

MedGen UID:
1658474
Concept ID:
C4722480
Disease or Syndrome
Synonyms: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; FACU; FAMILIAL ATYPICAL COLD URTICARIA; PLAID
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: PLCG2-associated antibody deficiency and immune dysregulation (773646003); PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation (773646003); Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (773646003); FACU - familial atypical cold urticaria (773646003); Familial cold urticaria with common variable immunodeficiency (773646003)
 
OMIM®: 614468
Orphanet: ORPHA300359

Definition

A rare hereditary immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. Caused by heterozygous deletion within the PLCG2 gene on chromosome 16q23. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPLCG2-associated antibody deficiency and immune dysregulation

Recent clinical studies

Etiology

Aderibigbe OM, Priel DL, Lee CC, Ombrello MJ, Prajapati VH, Liang MG, Lyons JJ, Kuhns DB, Cowen EW, Milner JD
JAMA Dermatol 2015 Jun;151(6):627-34. doi: 10.1001/jamadermatol.2014.5641. PMID: 25760457Free PMC Article

Diagnosis

Aderibigbe OM, Priel DL, Lee CC, Ombrello MJ, Prajapati VH, Liang MG, Lyons JJ, Kuhns DB, Cowen EW, Milner JD
JAMA Dermatol 2015 Jun;151(6):627-34. doi: 10.1001/jamadermatol.2014.5641. PMID: 25760457Free PMC Article
Kanazawa N
Immunol Allergy Clin North Am 2014 Feb;34(1):169-79. Epub 2013 Sep 26 doi: 10.1016/j.iac.2013.08.001. PMID: 24262697

Clinical prediction guides

Milner JD
J Clin Immunol 2015 Aug;35(6):527-30. Epub 2015 Jul 25 doi: 10.1007/s10875-015-0177-x. PMID: 26206677Free PMC Article

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