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

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

2 Citaten (Scopus)
58 Downloads (Pure)

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-2English
Artikelnummer137
Aantal pagina's7
TijdschriftOrphanet journal of rare diseases
Volume16
Nummer van het tijdschrift1
DOI's
StatusPublished - 19-mrt.-2021

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