Severe Combined Immune Deficiency

Severe combined immunodeficiency, SCID, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells. Children with SCID have  no natural defence against infection.
SCID is caused through numerous genetic mutations. There are at least nine different  known genetic mutations, which results in heterogeneous clinical presentations of SCID. SCID is the most severe form of primary immunodeficiency.

Challenge for rare disease

Repeatedly achieving successful stem cell transplantation or gene therapy.

Network

The two UK centres which treat SCID have a long history of collaboration with each other and with European centres.

Clinical Outcomes

The key outcome of treatment for SCID is cure – a successful stem cell transplant (or gene therapy). Adverse outcomes to be avoided are treatment related mortality (often related to the transplant
conditioning regime, or graft versus host disease).

Emerging best practice and innovation from peer learning

At the annual meeting, every patient treated in the previous year is discussed individually. The learning at this meeting is achieved by exchange of views, particularly about the multi-drug regimes used to prepare patients for stem cell transplant, and to treat graft-versus-host disease.

The meeting has also been used to develop practice in matters such as patients should be tested daily for virus infection in the early days post transplant.

The annual meeting has also provided a forum to develop the clinical case for newborn screening for SCID (which is not current policy in the UK).

Because it is a gathering of all clinicians in the UK who treat SCID, the meeting also provides a forum for international experts to present their work.