Common variable immunodeficiency
Lavt IgG med lavt IgA og/eller IgM og dårlig respons på vacciner; former med en enkelt genændring omfatter NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 og TNFRSF13B (TACI).
Hvad en diagnose ændrer
Immunglobulinbehandling og tidlig behandling af infektioner er standard; en genetisk årsag kan vejlede opfølgning for autoimmunitet, lymfom og lungesygdom, og nogle former (fx LRBA-mangel) reagerer på målrettet behandling.
Også kendt som
common variable hypogamma-globulinemia; Common Variable Immune Deficiency; common variable immune deficiency; hypogamma-globulinemia, acquired; Immunoglobulin deficiency, late-onset; primary antibody deficiency; primary hypogammaglobulinemia; secondary hypogammaglobulinemia
Omfatter 17 beslægtede undertyper ↓Skjul undertyper ↑
- combined immunodeficiency due to LRBA deficiency
- deficiency in anterior pituitary function - variable immunodeficiency syndrome
- IL21-related infantile inflammatory bowel disease
- immune deficiency, familial variable
- immunodeficiency, common variable, 1
- immunodeficiency, common variable, 10
- immunodeficiency, common variable, 12
- immunodeficiency, common variable, 14
- immunodeficiency, common variable, 15
- immunodeficiency, common variable, 2
- immunodeficiency, common variable, 3
- immunodeficiency, common variable, 4
- immunodeficiency, common variable, 5
- immunodeficiency, common variable, 6
- immunodeficiency, common variable, 7
- immunodeficiency, common variable, due to APRIL deficiency
- pancytopenia due to IKZF1 mutations
