Primary Immunodeficiency Diseases Research

St. Jude Children’s Research Hospital researchers are leading the way in developing cures for children with primary immunodeficiency diseases.

Primary immunodeficiency diseases are disorders where the immune system cannot protect the body from infections. The disorders are inherited. That means they are passed down through families.

Primary immunodeficiency diseases at St. Jude

One major focus of primary immunodeficiency diseases research at St. Jude is severe combined immunodeficiency (SCID). Our research centers on 2 main areas: stem cell (bone marrow) transplant and gene therapy. Gene therapy developed at St. Jude has cured infants born with X-linked severe combined immunodeficiency (SCID-X1).

Doctors in the St. Jude Transplant Program work closely with laboratory scientists. They move discoveries from the lab to patient care. The program does clinical trials to study promising new treatments.

Stem cell transplant research for SCID

Stem cell transplant can cure some primary immunodeficiency diseases such as SCID.

St. Jude treated its first SCID patient with a stem cell transplant in 1989. Since then, we have treated dozens of patients with this rare disease.

The St. Jude Transplant Program is one of the largest programs for children in the world. Each year, St. Jude does more than 100 stem cell/bone marrow transplants as part of clinical trial studies.

The Transplant Program is developing a new clinical trial for patients with SCID. This trial will study a type of stem cell transplant where parents are donors. The first choice is to use a matched sibling donor. But this is not always possible.

Gene therapy research for SCID

St. Jude is leading the way in new gene therapy approaches for SCID.

Gene therapy treats disease by “correcting” a mutated (changed) gene with a healthy one. Material from the new gene is put into a patient’s cells with the help of a disabled virus called a vector.

St. Jude has played a key role in developing these vectors. We make them at the Good Manufacturing Practice (GMP) facility at St. Jude.

Gene therapy has cured infants with X-linked SCID. We are looking at whether gene therapy can work for teens with the disease. St. Jude and the National Institute of Allergies and Infectious Diseases (NIAID) are working together on this study.

Read more about SCID cure

Primary Immune Deficiency Treatment Consortium

Primary immunodeficiency diseases can be difficult to study because they are so rare. Many hospitals may only see 1 or 2 patients a year. To speed up progress, leading hospitals and research centers work together. Key areas of research are newborn screening programs and new treatments.

St. Jude is a member of the Primary Immune Deficiency Treatment Consortium (PIDTC). It is an organization of centers in North America focused on improving outcomes for these diseases. The PIDTC has a registry for patients from across North America. The registry will help doctors learn more about these diseases and how best to treat them.

One goal of the PIDTC is to learn whether newborn screening for SCID can improve outcomes by finding immune problems earlier. The PIDTC also helps patients connect with experts and advocacy groups.

Learn more

Referrals

Have your doctor contact the Treatment Team at immunodeficiencies@stjude.org or call the Physician/Patient Referral Office at 1-888-226-4343 (toll-free).