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Diagnostic and therapeutic challenges in a child with complete Interferon‐γ Receptor 1 deficiency
Author(s) -
Olbrich Peter,
MartínezSaavedra Maria Teresa,
PerezHurtado José Maria,
Sanchez Cristina,
Sanchez Berta,
Deswarte Caroline,
Obando Ignacio,
Casanova JeanLaurent,
Speckmann Carsten,
Bustamante Jacinta,
RodriguezGallego Carlos,
Neth Olaf
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25625
Subject(s) - medicine , blood cancer , hematopoietic stem cell transplantation , disease , mendelian inheritance , interferon , haematopoiesis , curative treatment , transplantation , pediatrics , immunology , intensive care medicine , cancer , stem cell , gene , genetics , biology
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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.