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Ped Rheum Boards

Monogenic Primary Immunodeficiencies Associated With Autoimmune Features

QuestionAnswer
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
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