title: Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
abstract: Autosomal recessive (AR) complete Interferon-γ Receptor1 (IFN-γR1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Although hematopoietic stem cell transplantation (HSCT) remains the only curative treatment, outcomes are heterogeneous; delayed engraftment and/or graft rejection being commonly observed. This case report and literature review expands the knowledge about this rare but potentially fatal pathology, providing details regarding diagnosis, antimicrobial treatment, transplant performance, and outcome that may help to guide physicians caring for patients with AR complete IFN-γR1 or IFN-γR2 deficiency.
authors.affiliation: Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
authors.forename: Peter
authors.initials: P
authors.lastname: Olbrich
authors.affiliation: Department of Immunology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Martínez-Saavedra
authors.affiliation: Pediatric Hematology Unit, Hospital Virgen del Rocio, Sevilla, Spain.
authors.forename: José Maria
authors.initials: JM
authors.lastname: Perez-Hurtado
authors.affiliation: Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Sanchez
authors.affiliation: Department of Immunology, Hospital Virgen del Rocio, Sevilla, Spain.
authors.forename: Berta
authors.initials: B
authors.lastname: Sanchez
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Deswarte
authors.affiliation: Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Obando
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.|Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.|Howard Hughes Medical Institute, New York, New York.
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.|Center for Chronic Immunodeficiency, University of Freiburg, Freiburg, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Speckmann
authors.affiliation: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, Paris, France.|Paris Descartes University, Imagine Institute, Paris, France.|St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, New York.|Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.affiliation: Department of Immunology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain.|Department of Medical and Surgical Sciences, School of Medicine, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.
authors.forename: Carlos
authors.initials: C
authors.lastname: Rodriguez-Gallego
authors.affiliation: Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
authors.forename: Olaf
authors.initials: O
authors.lastname: Neth
mesh_terms: D064591:Allografts; D000890:Anti-Infective Agents / Q000627:therapeutic use*; D002675:Child, Preschool; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D006801:Humans; D008297:Male; D017471:Receptors, Interferon / Q000172:deficiency*; D033581:Stem Cell Transplantation; D000096743:Interferon gamma Receptor
chemical_list: D000890:Anti-Infective Agents; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor
keywords: atypical mycobacteria; infant; interferon gamma receptor; primary immunodeficiency; transplantation