New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
Publication date
2021-03-19
Authors
Willemse, Brigitte W M
van der Crabben, Saskia N.
Kerstjens-Frederikse, Wilhelmina S
Timens, Wim
van Montfrans, JM
Lindemans, Caroline
Boelens, Jaap J.
Hennus, Marije P
Van Haaften, Gijs
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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.
Keywords
Hematopoietic stem-cell transplantation, Immunodeficiency, NSMCE3 gene, Pediatric acute respiratory distress syndrome (PARDS), Severe respiratory failure, Genetics(clinical), Pharmacology (medical)
Citation
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 2021, 'New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)', Orphanet Journal of Rare Diseases, vol. 16, no. 1, 137, pp. 1-7. https://doi.org/10.1186/s13023-021-01770-z