Genetic defects underlying primary immunodeficiencies associated with autoimmunity
| Disease . | Genes . |
|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | Fas, caspase 10 |
| Autoimmune polyglandular syndrome I (APECED) | Autoimmune regulator |
| Hyper-IgM syndrome | CD40L, activation-induced cytidine deaminase |
| Chediak-Higashi syndrome (CHS) | Lysosomal trafficking regulator |
| Chronic granulomatous disease (CGD) | NADPH oxidase |
| Complement deficiencies | C1q, C1r, C1s, C2, C4, mannose-binding protein |
| Familial hemophagocytic lymphohistiocytosis (FHL) | Perforin |
| Familial Hibernian fever | Type I tumor necrosis factor (TNF) receptor |
| Familial Mediterranean fever | MEFV |
| Griscelli syndrome | RAB27A |
| Hyper-IgD and periodic fever syndrome | Mevalonate kinase |
| MHC I deficiency | Transporter associated with antigen presentation |
| MHC II deficiency | CIITA, RFXANF, RFX5, RFXAP |
| Leukocyte adhesion deficiency (LAD) | CD18 |
| Omenn syndrome | Recombinase-activating genes 1 and 2 |
| Wiskott-Aldrich syndrome (WAS) | Wiskott-Aldrich syndrome protein |
| X-linked lymphoproliferative disease (XLP) | SLAM-associated protein (SAP) |
| Disease . | Genes . |
|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | Fas, caspase 10 |
| Autoimmune polyglandular syndrome I (APECED) | Autoimmune regulator |
| Hyper-IgM syndrome | CD40L, activation-induced cytidine deaminase |
| Chediak-Higashi syndrome (CHS) | Lysosomal trafficking regulator |
| Chronic granulomatous disease (CGD) | NADPH oxidase |
| Complement deficiencies | C1q, C1r, C1s, C2, C4, mannose-binding protein |
| Familial hemophagocytic lymphohistiocytosis (FHL) | Perforin |
| Familial Hibernian fever | Type I tumor necrosis factor (TNF) receptor |
| Familial Mediterranean fever | MEFV |
| Griscelli syndrome | RAB27A |
| Hyper-IgD and periodic fever syndrome | Mevalonate kinase |
| MHC I deficiency | Transporter associated with antigen presentation |
| MHC II deficiency | CIITA, RFXANF, RFX5, RFXAP |
| Leukocyte adhesion deficiency (LAD) | CD18 |
| Omenn syndrome | Recombinase-activating genes 1 and 2 |
| Wiskott-Aldrich syndrome (WAS) | Wiskott-Aldrich syndrome protein |
| X-linked lymphoproliferative disease (XLP) | SLAM-associated protein (SAP) |
CD40L indicates CD40 ligand; NADPH, nicotinamide adenine dinucleotide phosphate; MHC, major histocompatibility complex; CIITA, class II transactivator protein; RFX, regulatory factor X; and SLAM, signaling lymphocyte activation molecule.