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Title: Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency
Authors: Olbrich, Peter
Martínez-Saavedra, Maria Teresa
Perez-Hurtado, José Maria
Sanchez, Cristina
Sanchez, Berta
Deswarte, Caroline
Obando, Ignacio
Casanova, Jean Laurent
Speckmann, Carsten
Bustamante, Jacinta
Rodriguez-Gallego, Carlos 
Neth, Olaf
Keywords: Stem-Cell Transplantation
Ifn-Gamma-R1 Deficiency
Susceptibility, et al
Issue Date: 2015
Publisher: 1545-5009
Journal: Pediatric Blood and Cancer 
Abstract: Autosomal recessive (AR) complete Interferon-gamma Receptor1 (IFN-gamma R1) 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-gamma R1 or IFN-gamma R2 deficiency. (C) 2015 Wiley Periodicals, Inc.
ISSN: 1545-5009
DOI: 10.1002/pbc.25625
Source: Pediatric Blood and Cancer[ISSN 1545-5009],v. 62, p. 2036-2039
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