title: Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
abstract: Interferon-γ receptor 2 (IFN-γR2) deficiency is a rare primary immunodeficiency characterized by predisposition to infections with weakly virulent mycobacteria, such as environmental mycobacteria and BCG vaccines. We describe here two children with IFN-γR2 deficiency, from unrelated, consanguineous kindreds of Arab and Israeli descent. The first patient was a boy who died at the age of 4.5 years, from recurrent, disseminated disease caused by Mycobacterium simiae. His IFN-γR2 defect was autosomal recessive and complete. The second patient was a girl with multiple disseminated mycobacterial infections, including infection with M. simiae. She died at the age of 5 years, a short time after the transplantation of umbilical cord blood cells from an unrelated donor. Her IFN-γR2 defect was autosomal recessive and partial. Autosomal recessive IFN-γR2 deficiency is life-threatening, even in its partial form, and genetic diagnosis and familial counseling are therefore particularly important for this condition. These two cases are the first of IFN-γR2 deficiency associated with M. simiae infection to be described.
authors.affiliation: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
authors.forename: Rubén
authors.initials: R
authors.lastname: Martínez-Barricarte
authors.forename: Orli
authors.initials: O
authors.lastname: Megged
authors.forename: Polina
authors.initials: P
authors.lastname: Stepensky
authors.forename: Pierre
authors.initials: P
authors.lastname: Casimir
authors.forename: Marcela
authors.initials: M
authors.lastname: Moncada-Velez
authors.forename: Diana
authors.initials: D
authors.lastname: Averbuch
authors.forename: Marc Victor
authors.initials: MV
authors.lastname: Assous
authors.forename: Omar
authors.initials: O
authors.lastname: Abuzaitoun
authors.forename: Xiao-Fei
authors.initials: XF
authors.lastname: Kong
authors.forename: Vincent
authors.initials: V
authors.lastname: Pedergnana
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.forename: Mélanie
authors.initials: M
authors.lastname: Migaud
authors.forename: Stefan
authors.initials: S
authors.lastname: Rose-John
authors.forename: Yuval
authors.initials: Y
authors.lastname: Itan
authors.forename: Bertrand
authors.initials: B
authors.lastname: Boisson
authors.forename: Aziz
authors.initials: A
authors.lastname: Belkadi
authors.forename: Francesca
authors.initials: F
authors.lastname: Conti
authors.forename: Laurent
authors.initials: L
authors.lastname: Abel
authors.forename: Guillaume
authors.initials: G
authors.lastname: Vogt
authors.forename: Stephanie
authors.initials: S
authors.lastname: Boisson-Dupuis
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000235:genetics* / Q000276:immunology; D008297:Male; D009164:Mycobacterium Infections / Q000150:complications* / Q000276:immunology / Q000401:mortality / Q000473:pathology*; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics*
chemical_list: C086185:IFNGR2 protein, human; D017471:Receptors, Interferon