Article
Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia.
Clinical immunology (Orlando, Fla.) - 1 Feb 2022
Almutairi Abduarahman, Amin Maha M, Rashwan Mohamed A M, Elnagdy Marwa H, Rizk Ragheed, Bahgat Sara A, Platt Craig D, Sobh Ali
Abstract excerpt
We report a female patient presenting with generalized pustular psoriasis and hypogammaglobulinemia due to digenic mutations in IL-36RA and SEC61A1. The patient presented with recurrent fevers, elevated inflammatory markers, hepatosplenomegaly, and recurrent sinopulmonary infections in the context of hypogammaglobulinemia which improved on immunoglobulin replacement. This report demonstrates how digenic...
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