New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
oleh: 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 |
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| Diterbitkan: | BMC 2021-03-01 |
Deskripsi
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.