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

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

Onderzoeksoutput: Bijdrage aan tijdschriftBriefpeer review

2 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Artikelnummer137
TijdschriftOrphanet Journal of Rare Diseases
Volume16
Nummer van het tijdschrift1
DOI's
StatusGepubliceerd - dec. 2021

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