Primary immunodeficiency diseases associated with autoimmunity
| Main defect in immunity . | Immunodeficiency diseases . | Autoimmune phenomena . |
|---|---|---|
| Neutrophil defects | CGD | Fibrosing granulomatous inflammation in lung, liver, and gut; SLE |
| LAD | Leukocytoclastic vasculitis | |
| Complement defects | Complement deficiencies | SLE |
| B-cell defects | XLA | None |
| NK-cell defects | CHS, Griscelli syndrome, XLP, FHL | Virus-associated HLH |
| T-cell, T-cell–associated defects | Omenn syndrome | Graft-versus-host–like disease |
| APECED | Organ-specific autoimmune disease (parathyroid, adrenal, gonads pancreas, skin, etc) | |
| ALPS | Autoimmune cytopenias (anemia, thrombocytopenia, neutropenia) | |
| CD40L deficiency | Sclerosing cholangitis | |
| MHC II deficiency | Sclerosing cholangitis, autoimmune cytopenias | |
| WAS | Anemia, vasculitis, arthritis, nephritis | |
| CVID | Granulomatous disease, autoimmune cytopenias, arthritis, inflammatory bowel disease | |
| Cytokine overactivity | Familial Mediterranean fever | Polyserositis, arthritis, HSP, PAN |
| Hyper-IgD syndrome with periodic fever | ||
| TNF-receptor–associated periodic fever (familial Hibernian fever) |
| Main defect in immunity . | Immunodeficiency diseases . | Autoimmune phenomena . |
|---|---|---|
| Neutrophil defects | CGD | Fibrosing granulomatous inflammation in lung, liver, and gut; SLE |
| LAD | Leukocytoclastic vasculitis | |
| Complement defects | Complement deficiencies | SLE |
| B-cell defects | XLA | None |
| NK-cell defects | CHS, Griscelli syndrome, XLP, FHL | Virus-associated HLH |
| T-cell, T-cell–associated defects | Omenn syndrome | Graft-versus-host–like disease |
| APECED | Organ-specific autoimmune disease (parathyroid, adrenal, gonads pancreas, skin, etc) | |
| ALPS | Autoimmune cytopenias (anemia, thrombocytopenia, neutropenia) | |
| CD40L deficiency | Sclerosing cholangitis | |
| MHC II deficiency | Sclerosing cholangitis, autoimmune cytopenias | |
| WAS | Anemia, vasculitis, arthritis, nephritis | |
| CVID | Granulomatous disease, autoimmune cytopenias, arthritis, inflammatory bowel disease | |
| Cytokine overactivity | Familial Mediterranean fever | Polyserositis, arthritis, HSP, PAN |
| Hyper-IgD syndrome with periodic fever | ||
| TNF-receptor–associated periodic fever (familial Hibernian fever) |
XLA indicates X-linked agammaglobulinemia; CVID, common variable immunodeficiency; HSP, Henoch-Schönlein purpura; and PAN, polyarteritis nodosa. For explanation of other abbreviations, see Tables 1 and 2.