Rheumatologic manifestations of the "MonoMAC" syndrome. a systematic review.
MonoMAC syndrome is characterized by monocytopenia with susceptibility to nontuberculous mycobacterial infections. First recognized in 2011, it is caused by GATA2 mutations and can manifest as disseminated mycobacterial, fungal, and viral infections. While mortality rates for this disorder have been high, it has recently been successfully treated with haploidentical allogeneic stem cell transplant. Since approximately one third of patients may have rheumatologic symptoms, such as erythema nodosum, panniculitis, or arthralgias, rheumatologists may expect to encounter this newly described entity with increasing frequency.
Division of Rheumatology, Department of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA, Jennifer.johnson@med.usc.edu.
Jennifer A
JA
Johnson
Steven S
SS
Yu
Michael
M
Elist
Daniel
D
Arkfeld
Richard S
RS
Panush
D000328:Adult; D004893:Erythema Nodosum / Q000473:pathology*; D005260:Female; D050989:GATA2 Transcription Factor / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009154:Mutation; D015434:Panniculitis / Q000473:pathology*; D055815:Young Adult
D050989:GATA2 Transcription Factor; C494711:GATA2 protein, human