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

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

Abstract We 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 findi...

Full description

Bibliographic Details
Main Authors: Brigitte W. M. Willemse, Saskia N. van der Crabben, Wilhelmina S. Kerstjens-Frederikse, Wim Timens, Joris M. van Montfrans, Caroline A. Lindemans, Jaap Jan Boelens, Marije P. Hennus, Gijs van Haaften
Format: Article
Language:English
Published: BMC 2021-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NSMCE3 gene
Severe respiratory failure
Immunodeficiency
Pediatric acute respiratory distress syndrome (PARDS)
Hematopoietic stem-cell transplantation
Online Access:https://doi.org/10.1186/s13023-021-01770-z

Internet

https://doi.org/10.1186/s13023-021-01770-z

Similar Items