Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

Bullous pemphigoid is the most common autoimmune subepidermal blistering disorder with a low incidence in childhood. Combined immunodeficiencies (CIDs) are a group of monogenic inborn errors of immunity (IEIs)...

Source: Allergy, Asthma and Clinical Immunology - December 24, 2022 Category: Allergy & Immunology Authors: Mazdak Fallahi, Mahnaz Jamee, Javad Enayat, Fahimeh Abdollahimajd, Mehrnaz Mesdaghi, Maliheh Khoddami, Anna Segarra-Roca, Alexandra Frohne, Jasmin Dmytrus, Mohammad Keramatipour, Mahboubeh Mansouri, Golnaz Eslamian, Shahrzad Fallah, Kaan Boztug and Zahra Tags: Case Report Source Type: research