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

Abstract

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

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