ARPC1B quality of life ESID-EBMT-CIS

ARPC1B Outcome and Quality of Life

We are promoting a collaborative study to assess clinical outcome and quality of life in patients with ARPC1B deficiency managed conservatively or with hematopoietic stem cell transplantation
Brief rationale of the project:
ARPC1B deficiency results in a combined immunodeficiency, characterized by recurrent infections, allergic manifestations, and platelet abnormalities with bleeding tendency. 

Although the only curative therapy currently available is haematopoietic stem cell transplantation (HSCT) there is a lack of data comparing the clinical outcome and quality of life of patients undergoing transplantation or treated conservatively.
In the Details.pdf attached you can find more informations about the project.

A pdf with more info can be found here

If you would like to participate and receive the Clinical Report Form (CRF) or have any questions about the study, please contact us at: