TY - JOUR
T1 - Novel mutation of interferon-γ receptor 1 gene presenting as early life mycobacterial bronchial disease
AU - Gutierrez, Maria J.
AU - Kalra, Neelu
AU - Horwitz, Alexandra
AU - Nino, Gustavo
N1 - Publisher Copyright:
© 2016 American Federation for Medical Research.
PY - 2016/1/1
Y1 - 2016/1/1
N2 - Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-γ receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations in the genes encoding IFNGR1 can be recessive or dominant and cause complete or partial receptor deficiency. We present the case of a 2½-year-old boy with a history of recurrent wheezing, diagnosed with endobronchial mycobacterial infection. Immunological workup revealed a homozygous nonsense mutation in the IFNGR1 gene, a novel mutation predicted in silico to cause complete IFNGR1 deficiency. This case demonstrates that (a) Interferon-γ receptor deficiency can present resembling common disorders of the lung; (b) mycobacterial infections should be suspected when parenchymal lung disease, hilar lymphadenopathy, and endobronchial disease are present; and (c) high index of suspicion for immunodeficiency should be maintained in patients with disseminated nontubercular mycobacterial infection.
AB - Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-γ receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations in the genes encoding IFNGR1 can be recessive or dominant and cause complete or partial receptor deficiency. We present the case of a 2½-year-old boy with a history of recurrent wheezing, diagnosed with endobronchial mycobacterial infection. Immunological workup revealed a homozygous nonsense mutation in the IFNGR1 gene, a novel mutation predicted in silico to cause complete IFNGR1 deficiency. This case demonstrates that (a) Interferon-γ receptor deficiency can present resembling common disorders of the lung; (b) mycobacterial infections should be suspected when parenchymal lung disease, hilar lymphadenopathy, and endobronchial disease are present; and (c) high index of suspicion for immunodeficiency should be maintained in patients with disseminated nontubercular mycobacterial infection.
KW - Endobronchial disease
KW - Innate immunity
KW - Interferon-γ receptor 1
KW - Mycobacterial infections
KW - Primary immunodeficiency
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U2 - 10.1177/2324709616675463
DO - 10.1177/2324709616675463
M3 - Article
AN - SCOPUS:85029372782
SN - 2324-7096
VL - 4
JO - Journal of Investigative Medicine High Impact Case Reports
JF - Journal of Investigative Medicine High Impact Case Reports
IS - 4
ER -