Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency - PubMed (original) (raw)
Case Reports
doi: 10.1159/000088682. Epub 2005 Sep 29.
Affiliations
- PMID: 16195661
- DOI: 10.1159/000088682
Case Reports
Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency
Paweł Remiszewski et al. Respiration. 2006.
Abstract
We report the case of a 20-year-old female with disseminated Mycobacterium avium disease involving bones, lungs and brain. She was completely healthy up until the present illness and had been vaccinated with BCG in infancy without complications. Mycobacteriosis progressed in spite of treatment with antituberculous drugs and was controlled only after addition of interferon-gamma subcutaneously. A homozygous hypomorphic I87T mutation was found in the gene encoding the ligand-binding chain of the IFN-gamma receptor (IFNgammaR1). This mutation is the only known recessive hypomorphic lesion in IFNGR1 and had been reported before in only 1 child with curable BCG infection and his sibling with primary tuberculosis. Our report illustrates the clinical heterogeneity of patients sharing exactly the same form of partial recessive IFNgammaR1 deficiency. A diagnosis of partial recessive IFNgammaR1 deficiency should be contemplated in adults with unexplained environmental mycobacterial diseases.
Copyright (c) 2006 S. Karger AG, Basel.
Comment in
- Mendelian susceptibility to mycobacterial disease.
Kumararatne DS. Kumararatne DS. Respiration. 2006;73(3):280-2. doi: 10.1159/000092083. Respiration. 2006. PMID: 16679750 No abstract available.
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