eprintid: 10048420
rev_number: 28
eprint_status: archive
userid: 608
dir: disk0/10/04/84/20
datestamp: 2018-05-16 10:17:03
lastmod: 2021-10-09 22:47:33
status_changed: 2018-05-16 10:17:03
type: article
metadata_visibility: show
creators_name: Hoenig, M
creators_name: Pannicke, U
creators_name: Gaspar, HB
creators_name: Schwarz, K
title: Recent advances in understanding the pathogenesis and management of reticular dysgenesis
ispublished: pub
divisions: UCL
divisions: B02
divisions: C09
divisions: D13
keywords: Science & Technology, Life Sciences & Biomedicine, Hematology, neutropenia, lymphopenia, immunodeficiency, myeloablation, conditioning, ADENYLATE KINASE 2, SEVERE COMBINED IMMUNODEFICIENCY, BONE-MARROW-TRANSPLANTATION, TRANSFER-RNA SYNTHETASE, DROSOPHILA-MELANOGASTER, HEARING-LOSS, INNER-EAR, SENSORINEURAL DEAFNESS, THYMIC ALYMPHOPLASIA, MITOCHONDRIAL IMPORT
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
abstract: SUMMARY
Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.
date: 2017-12-21
date_type: published
publisher: WILEY
official_url: https://doi.org/10.1111/bjh.15045
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
article_type_text: Review
verified: verified_manual
elements_id: 1520838
doi: 10.1111/bjh.15045
lyricists_name: Gaspar, Hubert
lyricists_id: HBGAS19
actors_name: Stacey, Thomas
actors_id: TSSTA20
actors_role: owner
full_text_status: public
publication: British Journal of Haematology
volume: 180
number: 5
pagerange: 644-653
pages: 10
issn: 1365-2141
citation:        Hoenig, M;    Pannicke, U;    Gaspar, HB;    Schwarz, K;      (2017)    Recent advances in understanding the pathogenesis and management of reticular dysgenesis.                   British Journal of Haematology , 180  (5)   pp. 644-653.    10.1111/bjh.15045 <https://doi.org/10.1111/bjh.15045>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10048420/1/Gaspar%20RetDys%20review%20BJH%20FINAL%20complete.pdf