Disseminated nontuberculous mycobacterial infection in a child with interferon-gamma receptor 1 deficiency.
We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing, poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-gamma receptor 1 gene (IFNgammaR1) revealed that he was homozygous for a novel null mutation, 453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNgammaR1 deficiency. The spectrum of IFNgammaR1 genotypes associated with this immunological disorder is expanding.
Tsolia
Maria N
MN
Second Department of Pediatrics, P. and A. Kyriakou Children's Hospital, Athens University School of Medicine, 115 27 Athens, Greece. matsolia@ath.forthnet.gr
Chapgier
Ariane
A
Taprantzi
Polyxeni
P
Servitzoglou
Marina
M
Tassios
Ioannis
I
Spyridis
Nikolaos
N
Papageorgiou
Fotini
F
Santos
Orchidée Filipe
OF
Casanova
Jean-Laurent
JL
Spyridis
Panayotis
P
D006801:Humans; D007223:Infant; D008297:Male; D009165:Mycobacterium Infections, Nontuberculous / Q000235:genetics / Q000276:immunology* / Q000382:microbiology; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics*; D000096743:Interferon gamma Receptor
D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor