一名完全性γ干扰素受体1缺乏症患儿的诊断和治疗挑战
Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.
作者信息
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
机构信息
Pediatric Infectious Diseases and Immunopathology Unit, Hospital Virgen del Rocio, Instituto de Biomedicina de Sevilla, Sevilla, Spain.
Department of Immunology, Gran Canaria Dr. Negrín University Hospital, Las Palmas de Gran Canaria, Spain.
出版信息
Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14.
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.
摘要
常染色体隐性（AR）完全性干扰素-γ受体1（IFN-γR1）缺陷是孟德尔遗传性分枝杆菌病易感性（MSMD）的一种罕见变异型。尽管造血干细胞移植（HSCT）仍然是唯一的治愈性治疗方法，但其结果存在异质性；移植延迟和/或移植物排斥很常见。本病例报告及文献综述扩展了对这种罕见但可能致命的病理学的认识，提供了有关诊断、抗菌治疗、移植过程及结果的详细信息，可能有助于指导治疗患有AR完全性IFN-γR1或IFN-γR2缺陷患者的医生。
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