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2015 ; 62
(11
): 2036-9
Nephropedia Template TP
gab.com Text
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English Wikipedia
Diagnostic and therapeutic challenges in a child with complete interferon-?
receptor 1 deficiency
#MMPMID26173802
Olbrich P
; Martínez-Saavedra MT
; Perez-Hurtado JM
; Sanchez C
; Sanchez B
; Deswarte C
; Obando I
; Casanova JL
; Speckmann C
; Bustamante J
; Rodriguez-Gallego C
; Neth O
Pediatr Blood Cancer
2015[Nov]; 62
(11
): 2036-9
PMID26173802
show ga
Autosomal recessive (AR) complete Interferon-? Receptor1 (IFN-?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-?R1 or
IFN-?R2 deficiency.