TY  - JOUR
VL  - 180
N2  - 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.
EP  - 653
JF  - British Journal of Haematology
AV  - public
ID  - discovery10048420
SN  - 1365-2141
N1  - This version is the author accepted manuscript. For information on re-use, please refer to the publisher?s terms and conditions.
KW  - Science & Technology
KW  -  Life Sciences & Biomedicine
KW  -  Hematology
KW  -  neutropenia
KW  -  lymphopenia
KW  -  immunodeficiency
KW  -  myeloablation
KW  -  conditioning
KW  -  ADENYLATE KINASE 2
KW  -  SEVERE COMBINED IMMUNODEFICIENCY
KW  -  BONE-MARROW-TRANSPLANTATION
KW  -  TRANSFER-RNA SYNTHETASE
KW  -  DROSOPHILA-MELANOGASTER
KW  -  HEARING-LOSS
KW  -  INNER-EAR
KW  -  SENSORINEURAL DEAFNESS
KW  -  THYMIC ALYMPHOPLASIA
KW  -  MITOCHONDRIAL IMPORT
TI  - Recent advances in understanding the pathogenesis and management of reticular dysgenesis
SP  - 644
UR  - https://doi.org/10.1111/bjh.15045
PB  - WILEY
A1  - Hoenig, M
A1  - Pannicke, U
A1  - Gaspar, HB
A1  - Schwarz, K
Y1  - 2017/12/21/
IS  - 5
ER  -