Targeted gene under study:

LIFR (OMIM * 151443, # 601559; ORPHA: 3206 )

IL6ST (OMIM * 600694, # 619751; ORPHA: 397709)


Biallelic and monoallelic variants in the IL-6 signal transduction genes, LIFR and IL6ST, are associated with Stüve-Wiedemann syndrome which is characterized by neurodevelopmental disorders, skeletal dysplasia, dysautonomia, and immunodeficiency. Its monoallelic forms show an attenuated phenotype with either IL6ST-related hyper IgE syndrome or LIFR-related neurodevelopmental disorders with urinary malformations. Here, we study the genotype-phenotype correlation of both biallelic and monoallelic variants in LIFR and IL6ST.

Coordinating clinicians

Hormos Dafsari –


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