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