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

Orphanet J Rare Dis. 2021 Mar 19;16(1):137. doi: 10.1186/s13023-021-01770-z.

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.

Publication types

  • Letter

MeSH terms

  • Chromosome Breakage
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Lung Diseases*
  • Phenotype
  • Respiratory Distress Syndrome*
  • Retrospective Studies