Targeted gene under study:
LYST (OMIM * 606897, # 214500; ORPHA: 167)
Abstract
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by hypopigmentation or oculocutaneous albinism with low vision, neurodevelopmental disorders, nystagmus, and photophobia, and severe immunologic deficiency with neutropenia and lack of natural killer cell function. A hallmark of the disorder is giant inclusion bodies in granulated cells. The majority of CHS patients eventually develop a lymphoproliferative syndrome, the ‘accelerated phase’ of the disorder, characterized by Parkinsonism, seizures, lymphohistiocytic infiltrates, fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, and bleeding.
Coordinating clinician
Hormos Dafsari – hormos.dafsari@uk-koeln.de
Institution
Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes