Inherited immune disorders
X-linked lymphoproliferative disease type 1 due to SH2D1A deficiency
XLP1 is an SH2D1A-related immune-regulation disorder. It can cause life-threatening inflammatory illness such as HLH, abnormal antibody levels and lymphoma; Epstein–Barr virus is an important trigger, although disease is not limited to one infection.
Other names and abbreviations
XLP1 · XLP-1 · SH2D1A deficiency · SAP deficiency · Duncan disease · X-linked lymphoproliferative syndrome type 1
Where transplant fits
Allogeneic transplantation can correct the underlying immune defect. Appropriate related or unrelated donors may be used, and transplantation may be considered before severe illness develops.
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
- An X-linked disorder predominantly affecting males, with variable age and severity of presentation.
- Other treatment options
- Immunoglobulin replacement and treatment of infection, HLH or lymphoma address current manifestations and can prepare a person for transplant.
- 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
An apparently well person can still face serious later risk. XLP1 and XIAP deficiency have different biology and transplant considerations.
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
- X-Linked Lymphoproliferative Disease
GeneReviews, University of Washington / NCBI Bookshelf · Accessed 2026-09-05 - Guidelines for hematopoietic stem cell transplantation for inborn errors of immunity
EBMT / ESID Inborn Errors Working Party · 2021
Understanding can become action.
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