Remiszewski, P and Roszkowska-Sliz, B and Winek, J and Chapgier, A and Feinberg, J and Langfort, R and Bestry, I and Augustynowicz-Kopeć, E and Ptak, J and Casanova, JL and Rowińska-Zakrzewska, E (2006) Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency. Respiration , 73 (3) 375 - 378. 10.1159/000088682.
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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.
|Title:||Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.|
|Keywords:||Adult, DNA, Diagnosis, Differential, Exons, Female, Gene Expression, Humans, Immunologic Deficiency Syndromes, Interferon-gamma, Magnetic Resonance Imaging, Mycobacterium avium, Polymerase Chain Reaction, Receptors, Interferon, Tuberculosis|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Genes, Development and Disease > ICH - Molecular Medicine Unit|
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