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
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
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.