Article
The opposing effects of two gene defects in STX11 and SLP76 on the disease in a patient with an inborn error of immunity.
The Journal of allergy and clinical immunology - 1 Dec 2023
Mansour Rana, El-Hassan Rana, El-Orfali Youmna, Saidu Adam, Al-Kalamouni Habib, Chen Qian, Benamar Mehdi, Dbaibo Ghassan, Hanna-Wakim Rima, Chatila Talal A, Massaad Michel J
Abstract excerpt
BACKGROUND: Inborn errors of immunity are mostly monogenic. However, disease phenotype and outcome may be modified by the coexistence of a second gene defect. OBJECTIVE: We sought to identify the genetic basis of the disease in a patient who experienced bleeding episodes, pancytopenia, hepatosplenomegaly, and recurrent pneumonia that resulted in death. METHODS: Genetic analysis was done using next-generation...
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