Plcg2-Associated Antibody Deficiency and Immune Dysregulation
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Familial Cold Urticaria with Common Variable Immunodeficiency
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Antibody Deficiency and Immune Dysregulation, Plcg2-Associated
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Phospholipase C Gamma 2-Associated Antibody Deficiency and Immune Dysregulation
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Familial Cold Autoinflammatory Syndrome Caused by Mutation in Plcg2
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Antibody Deficiency and Immune Dysregulation Placg2-Associated
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Plcg2 Associated Antibody Deficiency and Immune Dysregulation
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Familial Cold Autoinflammatory Syndrome Type 3
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Plcg2 Familial Cold Autoinflammatory Syndrome
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by cutaneous urticaria, erythema, and pruritus in response to cold exposure. Additional immunologic defects may include antibody deficiency, decreased B cells, defective B cells, increased infection susceptibility, and autoimmune disorder risk. The syndrome is associated with PLCG2 gene deletions on chromosome 16q. Symptoms include cold-induced hives, recurrent infections, autoimmune diseases, and allergic reactions. Cold urticaria typically occurs with evaporative cooling, not contact with cold objects. Other manifestations may include a blistering rash, granulomas, and reduced immune function with lower antibody levels. Autoimmune disorders like thyroiditis and vitiligo can also develop, along with the presence of abnormal antibodies in the blood.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.