A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection
DM Rose, J Atkins, SM Holland… - Journal of Allergy and …, 2014 - jacionline.org
MSMD may present as a localized, regional, or disseminated post-BCG mycobacterial
infection. Our patient presented with nonspecific symptoms of fever and lymphadenopathy
and was eventually diagnosed with MAC pneumonia and multifocal osteomyelitis. MAC
osteomyelitis is a common presentation of autosomal-dominant IFNGR1 defects. 3, 8 These
patients respond well to antibiotics, and our patient has done well on prophylactic antibiotics
and is infection free 7 months after presentation. In patients with partial disease and poor …
infection. Our patient presented with nonspecific symptoms of fever and lymphadenopathy
and was eventually diagnosed with MAC pneumonia and multifocal osteomyelitis. MAC
osteomyelitis is a common presentation of autosomal-dominant IFNGR1 defects. 3, 8 These
patients respond well to antibiotics, and our patient has done well on prophylactic antibiotics
and is infection free 7 months after presentation. In patients with partial disease and poor …
