scholarly journals Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

2016 ◽  
Vol 126 (8) ◽  
pp. 2881-2892 ◽  
Author(s):  
Saskia N. van der Crabben ◽  
Marije P. Hennus ◽  
Grant A. McGregor ◽  
Deborah I. Ritter ◽  
Sandesh C.S. Nagamani ◽  
...  
Keyword(s):  
Lung Disease ◽  
Chromosome Breakage ◽  
Chromosome Breakage Syndrome ◽  
Severe Lung Disease ◽  
Severe Lung

scholarly journals New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Brigitte W. M. Willemse ◽  
Saskia N. van der Crabben ◽  
Wilhelmina S. Kerstjens-Frederikse ◽  
Wim Timens ◽  
Joris M. van Montfrans ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Lung Disease ◽  
Chromosome Breakage ◽  
Recurrent Infections ◽  
Hematopoietic Stem ◽  
Chromosome Breakage Syndrome ◽  
Severe Immunodeficiency ◽  
Extended Survival ◽  
Immunological Abnormalities

AbstractWe report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transplantation failed to cure another patient. Our findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype.

Severe Lung Disease Associated with Vaping: A First Warning

2020 ◽  
Vol 56 (11) ◽  
pp. 691-692
Author(s):  
Carlos A. Jiménez-Ruiz ◽  
Marcos Garcia Rueda ◽  
Jaime Signes-Costa Miñana
Keyword(s):  
Lung Disease ◽  
Severe Lung Disease ◽  
Severe Lung

scholarly journals Infant With SARS-CoV-2 Infection Causing Severe Lung Disease Treated With Remdesivir

PEDIATRICS ◽  
2020 ◽  
Vol 146 (3) ◽  
pp. e20201701 ◽  
Author(s):  
Claire Frauenfelder ◽  
Joe Brierley ◽  
Elizabeth Whittaker ◽  
Giulia Perucca ◽  
Alasdair Bamford
Keyword(s):  
Lung Disease ◽  
Severe Lung Disease ◽  
Severe Lung
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