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


Authors: Willemse, B. W. M.; van der Crabben, S. N.; Kerstjens-Frederikse, W. S.; Timens, W.; van Montfrans, J. M.; Lindemans, C. A.; Boelens, J. J.; Hennus, M. P.; van Haaften, G.
Title: 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 findings suggest that the immunological abnormalities can be limited and do not fully explain the LICS phenotype. © 2021, The Author(s).
Keywords: immunodeficiency; hematopoietic stem-cell transplantation; nsmce3 gene; pediatric acute respiratory distress syndrome (pards); severe respiratory failure
Journal Title: Orphanet Journal of Rare Diseases
Volume: 16
ISSN: 1750-1172
Publisher: Biomed Central Ltd  
Date Published: 2021-03-19
Start Page: 137
Language: English
DOI: 10.1186/s13023-021-01770-z
PROVIDER: scopus
PMCID: PMC7980653
PUBMED: 33741030
DOI/URL:
Notes: Letter -- Export Date: 1 April 2021 -- Source: Scopus
Altmetric
Citation Impact
BMJ Impact Analytics
MSK Authors
  1. Jaap Jan Boelens
    211 Boelens