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 |
