Primary immunodeficiencies are rare heterogeneous disorders. Patients present with a variety of clinical symptoms and a wide range of infections and other complications.
Treatment by bone marrow transplantation is increasingly successful (reference: Antoine C, Müller S, Cant AJ, et al. Long-term survival and transplantation of
haemopoietic stem cells for immunodeficiencies: report of the European experience (1968-1999) The Lancet 2003;361:553-60) and the joint EBMT / ESID Working Party has
played a pivotal role designing and developing the guidelines which have led to this success.
The clinical hetergeneity of the patients, together with the fact that outcome data are based on observational studies, means that it is not yet possible to promulgate
tightly defined clinical protocols for transplanting these conditions. Each case needs to be carefully evaluated in a centre which has significant ongoing experience of
performing these procedures. The exact transplant protocol will be devised using these guidelines, but sometimes modified according to the particular variant of the primary
immunodeficiency and / or the patient's clinical condition. For all these reasons the Working Party strongly recommends that all patients with primary
immunodeficiency are transplanted in a centre that regularly transplants such cases, and also actively participates in the Working Party, as only in this
way can optimum results be obtained.
Bobby Gaspar is running a project to collect data on the presentation, management and outcome of XLP patients who have a confirmed mutation in the SAP gene (SH2D1A). Data is collected both on paper forms as well as in the ESID Online Database Subregistry for XLP (SH2D1A).
More informationThe EBMT guidelines (Paris – June 2004) for haemopoietic stem cell transplantation for primary immunodeficiencies is available here for download.
More information