PLCG2-associated antibody deficiency and immune dysregulation

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED
PLAID
FCAS3
FACU
Familial cold urticaria with common variable immunodeficiency
familial atypical cold urticaria
Number of Symptoms 23
OrphanetNr: 300359
OMIM Id: 614468
ICD-10: L50.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immune dysregulation disease with immunodeficiency
 -Rare genetic disease
 -Rare immune disease
Rare urticaria
 -Rare allergic disease
 -Rare skin disease
Systemic autoimmune disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003193) Allergic rhinitis 6 / 7739
2
 (HPO:0000872) Hashimoto thyroiditis 5 / 7739
3
 (HPO:0001025) Urticaria 73 / 7739
4
 (HPO:0001045) Vitiligo 13 / 7739
5
 (HPO:0002099) Asthma rare [HPO:skoehler] 62 / 7739
6
 (HPO:0002958) Immune dysregulation 5 / 7739
7
 (HPO:0002719) Recurrent infections 107 / 7739
8
 (HPO:0002960) Autoimmunity 78 / 7739
9
 (OMIM) Decreased serum IgM 4 / 7739
10
 (OMIM) Granulomatous dermatitis 3 / 7739
11
 (MedDRA:10016946) Food allergy 3 / 7739
12
 (OMIM) Mast cell degranulation 1 / 7739
13
 (OMIM) Defective B cell class-switching 1 / 7739
14
 (OMIM) Erythema, cold-induced 1 / 7739
15
 (OMIM) Positive antinuclear autoantibodies 1 / 7739
16
 (OMIM) Pruritis, cold-induced 1 / 7739
17
 (OMIM) Decreased circulating NK cells 1 / 7739
18
 (OMIM) Urticaria, cold-induced 1 / 7739
19
 (OMIM) Decreased circulating B cells 1 / 7739
20
 (OMIM) Decreased serum IgA 2 / 7739
21
 (OMIM) Increased serum IgE 4 / 7739
22
 (OMIM) Increased mast cells 1 / 7739
23
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of ...
Clinical Description OMIM Gandhi et al. (2009) reported 3 unrelated multigenerational families with atypical cold urticaria. Affected individuals developed pruritic erythema with urticaria and sometimes angioedema within 5 minutes after exposure to cold. Most patients had onset in the first 6 ...
Molecular genetics OMIM In affected members of 3 unrelated families with FCAS3, Ombrello et al. (2012) identified 3 different heterozygous intragenic deletions in the PLCG2 gene (600220.0001-600220.0003). The mutations were found by linkage analysis followed by candidate gene sequencing. Five of ...