Table 5.
Distribution of major autoimmune diseases among different categories/types of PIDs.
| Category/type of PIDs | Number of patients | Autoimmune Cytopenia(%) | IBD(%) | CD(%) | Endocrine disease(%) | Skin(%) |
|---|---|---|---|---|---|---|
| Immunodeficiencies affecting cellular and humoral immunity | 78 | 17.9 | 2.6 | 2.6 | 1.3 | 10.3 |
| SCID | 14 | 14.3 | 0 | 0 | 0 | 0 |
| OS | 6 | 50.0 | 0 | 0 | 0 | 100 |
| Leaky SCID | 9 | 33.3 | 0 | 0 | 0 | 11.1 |
| bona fide CID | 49 | 12.2 | 4.1 | 4.1 | 2.0 | 2.0 |
| Combined immunodeficiencies with associated or syndromic features | 28 | 17.9 | 0 | 3.6 | 3.6 | 0 |
| Wiskott–Aldrich syndrome | 6 | 33.3 | 0 | 16.7 | 0 | 0 |
| DiGeorge syndrome | 4 | 25.0 | 0 | 0 | 0 | 0 |
| Ataxia telangiectasia | 6 | 0 | 0 | 0 | 0 | 0 |
| Hyper-IgE syndrome | 7 | 0 | 0 | 0 | 0 | 0 |
| Other CID with syndromic features | 5 | 40 | 0 | 0 | 20 | 0 |
| Predominantly antibody deficiencies | 83 | 8.4 | 7.2 | 2.4 | 1.2 | 1.2 |
| Agammaglobulinemia | 14 | 0 | 0 | 0 | 0 | 0 |
| CVID | 42 | 11.9 | 9.5 | 4.8 | 0 | 2.4 |
| Other antibody deficiencies | 27 | 7.4 | 7.4 | 0 | 3.7 | 0 |
| Diseases of immune dysregulation | 20 | 20.0 | 40.0 | 5.0 | 20.0 | 5.0 |
| ALPS (Fas deficiency) | 3 | 100 | 0 | 0 | 0 | 0 |
| IPEX syndrome | 1 | 100 | 0 | 0 | 100 | 0 |
| LRBA deficiency | 1 | 0 | 0 | 0 | 0 | 0 |
| Immune dysregulation with colis |
6 | 0 | 100 | 0 | 0 | 16.7 |
| Familial hemophagocytic lymphohistiocytosis |
3 | 0 | 0 | 0 | 0 | 0 |
| Chediak Higashi | 2 | 0 | 0 | 0 | 0 | 0 |
| Other diseases of immune dysregulation | 4 | 0 | 50 | 25 | 75 | 0 |
| Congenital defects of phagocyte number or function | 9 | 11.1 | 22.2 | 0 | 11.1 | 0 |
| CGD | 4 | 0 | 50.0 | 0 | 25.0 | 0 |
| Congenital neutropenia | 3 | 33.3 | 0 | 0 | 0 | 0 |
| Other phagocytic defects | 2 | 0 | 0 | 0 | 0 | 0 |
| Defects of intrinsic and innate immunity | 6 | 0 | 0 | 0 | 16.7 | 0 |
| STAT1 GOF | 2 | 0 | 0 | 0 | 50 | 0 |
| MSMD | 4 | 0 | 0 | 0 | 0 | 0 |
| Complement deficiencies | 68 | 0 | 0 | 2.9 | 0 | 0 |
| HAE/C1-inhibitor deficiency | 55 | 0 | 0 | 3.6 | 0 | 0 |
| Other complement deficiencies | 13 | 0 | 0 | 0 | 0 | 0 |
ALPS, autoimmune lymphoproliferative syndrome; CD, celiac disease; CGD, chronic granulomatous disease; CID, combined immunodeficiency; CVID, common variable immunodeficiency; GOF, gain-of-function; HAE, hereditary angioedema; IBD, inflammatory bowel disease; IPEX, immune dysfunction, polyendocrinopathy, enteropathy, LRBA, lipopolysaccharide-responsive and beige-like anchor protein; MSMD, mendelian susceptibility to mycobacterial disease; OS, Omenn Syndrome; PID, primary immunodeficiency disease; SCID, severe combined immunodeficiency; STAT, signal transducer and activator of transcription.