561del4 defines a novel small deletion hotspot in the interferon-γ receptor 1 chain
S Rosenzweig, SE Dorman, J Roesler, J Palacios… - Clinical …, 2002 - Elsevier
Patients with a dominant small deletion (818del4, hotspot) in the interferon-γ receptor 1
(IFNGR1) gene (6q23–q24) and increased susceptibility to mycobacterial infections have
been recently reported. We describe a female patient homozygous for a 4-bp deletion in
exon 5 of IFNGR1 (561del4) who developed postvaccinal disseminated Bacille Calmette-
Guerin infection. She was born to unrelated Argentinean parents, each of whom was
heterozygous for this mutation. 561del4 has been previously described as a maternally …
(IFNGR1) gene (6q23–q24) and increased susceptibility to mycobacterial infections have
been recently reported. We describe a female patient homozygous for a 4-bp deletion in
exon 5 of IFNGR1 (561del4) who developed postvaccinal disseminated Bacille Calmette-
Guerin infection. She was born to unrelated Argentinean parents, each of whom was
heterozygous for this mutation. 561del4 has been previously described as a maternally …