Journal Article

Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon-γ Receptor Deficiency

Heidi Glosli, Asbjørg Stray-Pedersen, Anne C. Brun, Lena W. Holtmon, Tone Tønjum, Ariadne Chapgier, Jean L. Casanova and Tore G. Abrahamsen

in Clinical Infectious Diseases

Published on behalf of Infectious Diseases Society of America

Volume 46, issue 3, pages e23-e27
Published in print February 2008 | ISSN: 1058-4838
Published online February 2008 | e-ISSN: 1537-6591 | DOI: http://dx.doi.org/10.1086/525855
Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon-γ Receptor Deficiency

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Background.Atypical mycobacteria can cause systemic infections in patients with certain types of im munodeficiency.

Methods.Clinical samples were decontaminated and cultured to assess the presence of mycobacterial species. Gene sequencing was performed to reveal interferon-γ receptor 1 (IFN-γR1) deficiency.

Results.The index patient received a diagnosis of dominant IFN-γR1 deficiency during treatment for a serious infection due to atypical mycobacteria. She belongs to a Norwegian multiplex family comprising 3 generations and 5 patients with dominant IFN-γR1 deficiency. Four of these patients have been treated with tuberculostatics because of extensive infection due to atypical mycobacteria, such as Mycobacterium avium-intracellulare, Mycobacterium scrofulaceum, Mycobacterium bovis (bacille Calmette-Guérin), Mycobacterium bohemicum, and Mycobacterium gordonae. Two of the patients have also received subcutaneous injections of IFN-γ. One family member with the deficiency has not received treatment and is still healthy at 13 years of age.

Conclusions.Serious infection due to atypical mycobacteria should initiate a search for primary immunodeficiencies, particularly IFN-γR1 deficiency. Treatment with IFN-γ should be started when serious infection due to atypical mycobacteria is verified and dominant partial IFN-γR1 deficiency is suspected.

Journal Article.  3433 words.  Illustrated.

Subjects: Infectious Diseases ; Immunology ; Public Health and Epidemiology ; Microbiology

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