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

*Corresponding author for this work

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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.

Original languageEnglish
Article number137
Number of pages7
JournalOrphanet journal of rare diseases
Volume16
Issue number1
DOIs
Publication statusPublished - 19-Mar-2021

Keywords

  • NSMCE3 gene
  • Severe respiratory failure
  • Immunodeficiency
  • Pediatric acute respiratory distress syndrome (PARDS)
  • Hematopoietic stem-cell transplantation

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