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DISSEMINATED MYCOBACTERIUM PEREGRINUM INFECTION IN A CHILD WITH COMPLETE INTERFERON-GAMMA RECEPTOR-1 DEFICIENCY

Koscielniak, Ewa ; de Boer, Tjitske ; Dupuis, Stephanie ; Naumann, Ludmila ; Casanova, Jean Laurent ; Ottenhoff, Tom H. M.



Zusammenfassung

We describe an infant who at the age of 1 year developed chronic disseminating infection caused by a fast growing, poorly pathogenic mycobacterial species, Mycobacterium peregrinum. The child was diagnosed with complete interferon-gamma receptor-1 deficiency resulting from a novel, recessive null mutation in IFNGR1. This is only the second reported case of interferon-gamma receptor-1 deficiency in which the primary infection was caused by a fast growing mycobacterial species.


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