Inherited immune disorders
CD40 ligand deficiency
CD40 ligand deficiency is an X-linked immune disorder that impairs communication between immune cells, including the ability to make effective antibody responses. Serious infections, neutropenia and liver or intestinal complications can occur.
Other names and abbreviations
CD40LG deficiency · CD40L deficiency · HIGM1 · XHIGM · XHIM · CD154 deficiency · hyper IgM syndrome · primary immunodeficiency · PID · X-linked hyper-IgM syndrome · Hyper-IgM syndrome type 1
Where transplant fits
Allogeneic transplantation can correct the immune defect. A suitable unrelated donor is an option when an appropriate family donor is unavailable. Timing depends on infection history, organ health and transplant risk.
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 recognized in boys during childhood, although milder or later presentations occur.
- Other treatment options
- Immunoglobulin replacement, antimicrobial prevention and treatment, and selected treatment of neutropenia help control complications.
- 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
This is CD40LG deficiency, not every disorder called hyper-IgM syndrome. Existing liver or other organ damage may affect transplant safety and may not fully reverse.
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
- CD40 Ligand Deficiency
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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