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

BACKGROUND: 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) characterized by T- and B-cell dysfunction leading to recurrent infections, ly...

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Detalles Bibliográficos
Autores principales: Fallahi, Mazdak, Jamee, Mahnaz, Enayat, Javad, Abdollahimajd, Fahimeh, Mesdaghi, Mehrnaz, Khoddami, Maliheh, Segarra-Roca, Anna, Frohne, Alexandra, Dmytrus, Jasmin, Keramatipour, Mohammad, Mansouri, Mahboubeh, Eslamian, Golnaz, Fallah, Shahrzad, Boztug, Kaan, Chavoshzadeh, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9789581/
https://www.ncbi.nlm.nih.gov/pubmed/36566211
http://dx.doi.org/10.1186/s13223-022-00749-0

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