| syndroom van PLCG2-geassocieerde antilichaamdeficiëntie en immunodysregulatie (aandoening) |
| syndroom van PLCG2-geassocieerde antilichaamdeficiëntie en immunodysregulatie |
| syndroom van PLCG2-geassocieerde antilichaamdeficiëntie en immuundysregulatie
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| PLCG2-associated antibody deficiency and immune dysregulation |
| Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
Familial cold urticaria with common variable immunodeficiency
PLCG2 (phospholipase C gamma 2) associated antibody deficiency and immune dysregulation
FACU - familial atypical cold urticaria
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| A rare hereditary immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized 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. |
