Combined immunodeficiency in a patient with deficiency of c-Rel

Autor: Beaussant-Cohen, Sarah, Jaber, Faris, Massaad, Michel J., Weeks, Sabrina, Jones, Jennifer, Alosaimi, Mohammed F., Wallace, Jacqueline, Al-Herz, Waleed, Geha, Raif S., Chou, Janet
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: J Allergy Clin Immunol
Popis: This study reports a homozygous mutation in REL abrogating c-Rel protein expression in a patient with combined immunodeficiency characterized by susceptibility to Mycobacterium tuberculosis, Salmonella, Cryptosporidium, and cytomegalovirus.
Databáze: OpenAIRE