%T Recent advances in understanding the pathogenesis and management of reticular dysgenesis
%O This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
%P 644-653
%D 2017
%I WILEY
%L discovery10048420
%N 5
%J British Journal of Haematology
%V 180
%A M Hoenig
%A U Pannicke
%A HB Gaspar
%A K Schwarz
%K 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
%X 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.