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Clinical and immunological outcome of CID patients with hypomorphic RAG mutations following HSCT

Inborn Errors Working Party (IEWP)
Study type:
Study number:
Type of Stem Cell Treatment:
Other non-malignant disorders
Short title:
Primary objective:
Key inclusion criteria:
Data are collected from any transplanted RAG 1/2 deficient patient who presented with >300 T-cells independent of age. Data collection will include detailed information prior HSCT (clinical, genetic and immunological).

Exclusion criteria, besides classical SCID patients, are Omenn phenotype and T-cells due to materno-fetal transfusion, or patients not having been treated by HSCT.

If you wish to participate in this study and have not been contacted by the data office please contact:
Principal investigator:
Catharina Schuetz & Benedicte Neven
EBMT Study coordinator:
Sheree Hazelaar
Study coordinator email: