Living with Familial cold autoinflammatory syndrome 3
An inherited condition (PLAID) in which cool air or water triggers hives, along with immune system problems.
Understanding Familial cold autoinflammatory syndrome 3
The main feature is hives when skin is exposed to cool temperatures, especially evaporative cooling like a cool breeze on damp skin. People do not react to touching an ice cube. Hives clear as skin warms. Some babies have blistering on the nose, ears, and fingers. Immune function is reduced in many people, leading to repeated infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hives from cold exposure (cold urticaria)
- Itching
- Swelling under the skin (angioedema)
- Allergies and hay fever
- Repeated sinus and lung infections
- Feeling faint
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, allergy and immune system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PLCG2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The International Foundation for Autoimmune & Autoinflammatory Arthritis and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PLCG2 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: antibody deficiency and immune dysregulation, plcg2-associated; facu; familial atypical cold urticaria; familial cold autoinflammatory syndrome caused by mutation in plcg2; familial cold autoinflammatory syndrome type 3; familial cold urticaria with common variable immunodeficiency
Patient organizations
- The International Foundation for Autoimmune & Autoinflammatory ArthritisFamilial cold autoinflammatory syndrome 3 · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial cold autoinflammatory syndrome 3.
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