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Diagnostic and therapeutic challenges in a child with complete Interferon-? Receptor 1 deficiency #MMPMID26173802
Pediatr Blood Cancer 2015[Nov]; 62 (11): 2036-9 PMID26173802show ga
Autosomal recessive (AR) complete Interferon-? Receptor1 (IFN-?R1) deficiency is a rare variant of Mendelian susceptibility to mycobacterial disease (MSMD). Whilst 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-?R1 or IFN-?R2 deficiency.