Variable Presentation of Disseminated Nontuberculous Mycobacterial Infections in a Family with an Interferon- Receptor Mutation | Zendy

Jin-Young Han | Zendy; Sergio D. Rosenzweig | Zendy; Joseph A. Church | Zendy; Steven M. Holland | Zendy; L. A. Ross | Zendy

Open Access

Variable Presentation of Disseminated Nontuberculous Mycobacterial Infections in a Family with an Interferon- Receptor Mutation

Author(s) -

Jin-Young Han,

Sergio D. Rosenzweig,

Joseph A. Church,

Steven M. Holland,

L. A. Ross

Publication year - 2004

Publication title -

clinical infectious diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.44

H-Index - 336

eISSN - 1537-6591

pISSN - 1058-4838

DOI - 10.1086/423804

Subject(s) - medicine , nontuberculous mycobacteria , family history , mutation , immunology , mycobacterium avium complex , interferon , presentation (obstetrics) , mycobacterium , pediatrics , tuberculosis , genetics , biology , pathology , surgery , gene

A previously healthy 13-year-old child who had disseminated Mycobacterium avium infection is described. Further history revealed disseminated mycobacterial infections in the patient's father and uncle, starting at 9 years old and 1 year old, respectively. Autosomal dominant interferon- gamma receptor mutation was subsequently identified. Clinical variability among the affected members of the same family is consistent with previous reports suggesting substantial variability in the clinical course of this disorder.

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