Successful Hematopoietic Stem Cell Transplantation in a Patient with Complete IFN-γ Receptor 2 Deficiency: a Case Report and Literature Review
Pier‐Angelo Tovo, Silvia Garazzino, Francesco Saglio, Carlo Scolfaro, Jacinta Bustamante, Raffaele Badolato, Franca Fagioli
Abstract
To the Editor, Mendelian susceptibility to mycobacterial diseases (MSMD; Online Mendelian Inheritance in Man, OMIM #209950) is an inborn error of immunity (IEI) characterized by extreme susceptibility to invasive infections sustained by poorly virulent mycobacteria, including Mycobacterium bovis, bacillus Calmette-Gurin (BCG) vaccines, and environmental mycobacteria M. tuberculosis may also be involved in rare cases Many genes involved in interferon (IFN)- production (IL12B, IL12RB1, IL12RB2, IL23R, TYK2, ISG15, RORC), in response to IFN- (IFN-R1, IFN-R2, STAT1, JAK1, CYBB), both (IRF8, SPPL2A, NEMO) or IFN- itself are responsible for MSDM The clinical features depend on the genotype and the residual activity of IFN-.