Deciphering inflammatory phenotypes prior to and under targeted therapies in JAK1GOF disease

The study has been approved by ESID. 

Proposed by: Prof. Dr. Catharina Schuetz, Prof. Dr. Safa Baris, Dr. Timmy
Strauß

JAK1-GOF disease is a rare monogenic IEI first described in 2018. To date, there are only 4 reports from patients with distinct heterozygous JAK1 variants leading to a GOF. The reported phenotypic spectrum is very broad predominantly atopy, autoimmunity and autoinflammation. Phenotypes may be mild with only moderate infection susceptibility. There is a need to collect data on response to therapies. Perspectively, targeted treatment options for affected patients who do not benefit from JAK inhibitors should be identified.

The objectives of this study include:

1. Investigation of disease phenotypes in JAK1GOF disease
2. Investigation of specific treatments and treatment responses in
   JAK1GOF disease
3. Creation of a platform for further functional testing of VUS in JAK1.has be