Inherited immune disorders
JAK3-deficient severe combined immunodeficiency
JAK3-deficient SCID is a recessive genetic disorder that disrupts immune signaling. T cells and natural-killer cells are usually profoundly reduced, while B cells may be present but cannot provide normal protection.
Other names and abbreviations
JAK3-SCID · JAK3 deficiency · T-B+NK- SCID · SCID · severe combined immunodeficiency · primary immunodeficiency · T-B+ severe combined immunodeficiency due to JAK3 deficiency · Autosomal recessive common gamma-chain-like SCID
Where transplant fits
Allogeneic transplantation can reconstitute the immune system, using a suitable relative, unrelated donor or selected alternative donor. The clinical condition and expected immune recovery shape conditioning and donor selection.
Treatment depends on the exact diagnosis, disease stage, prior treatment and the person’s health. These categories are not estimates of donor demand.
Treatment at a glance
- Who it affects
- Usually presents in infancy or is identified through screening; both sexes can be affected.
- Other treatment options
- Infection prevention, immunoglobulin support and treatment of active infections are used while definitive treatment is arranged.
- Cells used for transplantation
- When transplantation is appropriate, the graft contains blood-forming stem cells from a suitable donor. Bone marrow, peripheral blood or cord blood may be selected according to the condition and transplant protocol.
Why the details matter
The immune-cell pattern resembles X-linked SCID, but JAK3 deficiency has a different genetic cause and inheritance pattern. Partial-function variants can lead to atypical disease.
Questions to bring to your care team
What is the exact diagnosis or subtype? What is the goal of each treatment option? If transplant is being considered, why does it fit this situation, which cells would be used and what are the alternatives?
Sources and further reading
- Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021 - Inborn Errors of Immunity
EBMT Handbook · 2024-04-11
Understanding can become action.
Some patients need a blood stem cell donor. Others receive different treatment. Wherever your interest began, you can help JBF reach more people who may be able to donate.
Explore the official registry serving where you live. It explains who can join, how registration works and what donation involves.
Find your official registryIf joining is not right for you, a gift to the Jada Bascom Foundation supports education, outreach and referrals to official registries.
Donate to JBFKeep learning
Why matching is hard: an interactive leukemia story
More in inherited immune disorders. Sharing a group does not mean sharing a treatment plan.
