title: Disseminated Mycobacterium avium infection in a 20-year-old female with partial recessive IFNgammaR1 deficiency.
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.
authors.affiliation: Third Department of Lung Diseases, National Tuberculosis and Chest Diseases Research Institute, Warsaw, Poland. remiszewski@igichp.edu.pl
authors.forename: Paweł
authors.initials: P
authors.lastname: Remiszewski
authors.forename: Barbara
authors.initials: B
authors.lastname: Roszkowska-Sliz
authors.forename: Jolanta
authors.initials: J
authors.lastname: Winek
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Jacquelin
authors.initials: J
authors.lastname: Feinberg
authors.forename: Renata
authors.initials: R
authors.lastname: Langfort
authors.forename: Iwona
authors.initials: I
authors.lastname: Bestry
authors.forename: Ewa
authors.initials: E
authors.lastname: Augustynowicz-Kopeć
authors.forename: Jakub
authors.initials: J
authors.lastname: Ptak
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Ewa
authors.initials: E
authors.lastname: Rowińska-Zakrzewska
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D015870:Gene Expression; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D007371:Interferon-gamma / Q000172:deficiency; D008279:Magnetic Resonance Imaging; D009162:Mycobacterium avium / Q000302:isolation & purification*; D016133:Polymerase Chain Reaction; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics; D014376:Tuberculosis / Q000150:complications* / Q000175:diagnosis / Q000382:microbiology; D000096743:Interferon gamma Receptor
chemical_list: D004247:DNA; D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor