Common variable immunodeficiency
Låg IgG med låg IgA och/eller IgM och dålig vaccinrespons; monogena former omfattar NFKB1, NFKB2, ICOS, CD19, CD81, CR2, IKZF1, IRF2BP2, SEC61A1 och TNFRSF13B (TACI).
Vad en diagnos förändrar
Immunglobulinersättning och tidig behandling av infektioner är standard; en genetisk orsak kan vägleda uppföljningen för autoimmunitet, lymfom och lungsjukdom, och vissa former (till exempel LRBA-brist) svarar på riktad behandling.
Även känd som
common variable hypogamma-globulinemia; Common Variable Immune Deficiency; hypogamma-globulinemia, acquired; Immunoglobulin deficiency, late-onset; primary antibody deficiency; primary hypogammaglobulinemia; secondary hypogammaglobulinemia
Inkluderar 17 relaterade undertyper ↓Dölj 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
