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Ped Rheum Boards
Monogenic Primary Immunodeficiencies Associated With Autoimmune Features
| Question | Answer |
|---|---|
| IPEX | FOXP3 (X-linked) |
| IPEX | Enteropathy, eczema, thyroiditis, diabetes mellitus, autoimmune cytopenias |
| APS1/APECED | AIRE |
| APS1/APECED | autosomal recessive |
| APS1/APECED | Hypoparathyroidism, adrenal insufficiency, mucocutaneous candidiasis, vitiligo |
| CTLA4 deficiency | CTLA4 |
| CTLA4 deficiency | haploinsufficiency |
| CTLA4 deficiency | Enteropathy, autoimmune cytopenias, arthritis, diabetes mellitus, vitiligo |
| Hyper IgE syndrome | STAT3 - loss of function (AD) |
| Hyper IgE syndrome | Eczema, cutaneous abscesses, recurrent infection |
| STAT3 GOF | STAT3 - gain of function (AD) |
| STAT3 GOF | Arthritis, short stature, autoimmune cytopenias, lymphoproliferative disease |
| Autoimmune lymphoproliferative syndrome | FAS and other genes (AD) |
| Autoimmune lymphoproliferative syndrome | Lymphoproliferation, autoimmune cytopenias, SLElike disease |
| Wiskott-Aldrich syndrome | WAS (X-linked) |
| Wiskott-Aldrich syndrome | Thrombocytopenia (microcytic, not immune mediated), eczema, broad immunodeficiency, autoimmunity, and lymphoid malignancy |