ALLMedicine™ Jacobsen Syndrome Center
Research & Reviews 47 results
Journal of Medical Case Reports; Dalen ML, Vigerust NF et. al.
Mar 25th, 2022 - We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed, pulmona...
https://doi.org/10.1007/s12016-022-08927-z 10.1136/jmg.30.10.803 10.1038/85845 10.1016/j.ajhg.2014.12.025 10.1016/j.jaip.2019.05.050 10.1002/humu.20330 10.1016/j.jaci.2004.01.766 10.1136/adc.2006.097493 10.1542/peds.2013-0831 10.1016/j.jaci.2010.07.018 10.1016/j.jaci.2017.03.020 10.3892/etm.2017.5362 10.1136/jmg.37.1.33 10.1007/s10875-015-0211-z 10.1016/j.ajhg.2019.07.014 10.1182/blood-2010-06-292490 10.1172/JCI127565
Clinical Reviews in Allergy & Immunology; Urschel D, Hernandez-Trujillo VP
Feb 9th, 2022 - Improved genetic testing has led to recognition of a diverse group of disorders of inborn errors of immunity that present as primarily T-cell defects. These disorders present with variable degrees of immunodeficiency, autoimmunity, multiple organ ...
https://doi.org/10.1007/s10875-021-01169-2 10.1159/000152624 10.1002/ajmg.c.31448 10.1002/ajmg.a.30090 10.1101/mcs.a004010 10.1182/blood-2015-06-650887 10.1136/jmg.33.9.772 10.1182/blood.v85.7.1805.bloodjournal8571805 10.1007/s10875-019-00737-x 10.1007/s10875-015-0211-z 10.1016/j.clim.2010.04.005 10.1080/14767058.2019.1702951 10.1007/s10875-013-9966-2 10.1002/ajmg.a.38032 10.18632/aging.101774 10.1186/1742-4690-10-158 10.1182/blood-2012-07-440776 10.1182/blood-2011-09-378182 10.1073/pnas.1304343110 10.1002/eji.201444442 10.1016/j.clim.2008.05.010 10.1182/blood-2003-12-4345
Journal of Clinical Immunology; Baronio M, Saettini F et. al.
Nov 22nd, 2021 - Jacobsen syndrome (JS) is a rare form of genetic disorder that was recently classified as a syndromic immunodeficiency. Available detailed immunological data from JS patients are limited. Clinical and immunological presentation of twelve pediatric...
Pediatric Neurology; Kumar A, Sakakura K et. al.
May 8th, 2021 - Alteration of the Arcuate Fasciculus in Jacobsen Syndrome Shown by Diffusion Tensor Imaging.|2021|Kumar A,Sakakura K,Mitsuhashi T,Railean A,Luat AF,|
Human Molecular Genetics; Gunaseelan S, Wang Z et. al.
Jan 5th, 2021 - FEZ1-mediated axonal transport plays important roles in central nervous system development but its involvement in the peripheral nervous system is not well-characterized. FEZ1 is deleted in Jacobsen syndrome (JS), an 11q terminal deletion developm...