Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency

Rubén Martínez-Barricarte, Orli Megged, Polina Stepensky, Pierre Casimir, Marcela Moncada-Velez, Diana Averbuch, Marc Victor Assous, Omar Abuzaitoun, Xiao Fei Kong, Vincent Pedergnana, Caroline Deswarte, Mélanie Migaud, Stefan Rose-John, Yuval Itan, Bertrand Boisson, Abdelaziz Belkadi, Francesca Conti, Laurent Abel, Guillaume Vogt, Stephanie Boisson-Dupuis & 2 others Jean Laurent Casanova, Jacinta Bustamante

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)904-909
Number of pages6
JournalJournal of Clinical Immunology
Volume34
Issue number8
DOIs
Publication statusPublished - 1 Jan 2014
Externally publishedYes

Fingerprint

Interferon Receptors
Mycobacterium Infections
Mycobacterium
Infection
BCG Vaccine
Unrelated Donors
Fetal Blood
Counseling
Blood Cells
Transplantation

Keywords

  • Interferon and IFN-γR2 deficiency
  • MSMD
  • Mycobacterium simiae

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Martínez-Barricarte, R., Megged, O., Stepensky, P., Casimir, P., Moncada-Velez, M., Averbuch, D., ... Bustamante, J. (2014). Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. Journal of Clinical Immunology, 34(8), 904-909. https://doi.org/10.1007/s10875-014-0085-5

Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. / Martínez-Barricarte, Rubén; Megged, Orli; Stepensky, Polina; Casimir, Pierre; Moncada-Velez, Marcela; Averbuch, Diana; Assous, Marc Victor; Abuzaitoun, Omar; Kong, Xiao Fei; Pedergnana, Vincent; Deswarte, Caroline; Migaud, Mélanie; Rose-John, Stefan; Itan, Yuval; Boisson, Bertrand; Belkadi, Abdelaziz; Conti, Francesca; Abel, Laurent; Vogt, Guillaume; Boisson-Dupuis, Stephanie; Casanova, Jean Laurent; Bustamante, Jacinta.

In: Journal of Clinical Immunology, Vol. 34, No. 8, 01.01.2014, p. 904-909.

Research output: Contribution to journalArticle

Martínez-Barricarte, R, Megged, O, Stepensky, P, Casimir, P, Moncada-Velez, M, Averbuch, D, Assous, MV, Abuzaitoun, O, Kong, XF, Pedergnana, V, Deswarte, C, Migaud, M, Rose-John, S, Itan, Y, Boisson, B, Belkadi, A, Conti, F, Abel, L, Vogt, G, Boisson-Dupuis, S, Casanova, JL & Bustamante, J 2014, ' Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency', Journal of Clinical Immunology, vol. 34, no. 8, pp. 904-909. https://doi.org/10.1007/s10875-014-0085-5
Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D et al. Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. Journal of Clinical Immunology. 2014 Jan 1;34(8):904-909. https://doi.org/10.1007/s10875-014-0085-5
Martínez-Barricarte, Rubén ; Megged, Orli ; Stepensky, Polina ; Casimir, Pierre ; Moncada-Velez, Marcela ; Averbuch, Diana ; Assous, Marc Victor ; Abuzaitoun, Omar ; Kong, Xiao Fei ; Pedergnana, Vincent ; Deswarte, Caroline ; Migaud, Mélanie ; Rose-John, Stefan ; Itan, Yuval ; Boisson, Bertrand ; Belkadi, Abdelaziz ; Conti, Francesca ; Abel, Laurent ; Vogt, Guillaume ; Boisson-Dupuis, Stephanie ; Casanova, Jean Laurent ; Bustamante, Jacinta. / Mycobacterium simiae Infection in Two Unrelated Patients with Different Forms of Inherited IFN-γR2 Deficiency. In: Journal of Clinical Immunology. 2014 ; Vol. 34, No. 8. pp. 904-909.
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