10-month-old warrior fights against rare genetic immunodeficiency

GKNM Hospital > Uncategorized > 10-month-old warrior fights against rare genetic immunodeficiency

A groundbreaking bone marrow transplant has saved the life of a 10-month-old boy from Karur who suffered from a rare genetic immunodeficiency, which previously claimed the lives of his three older siblings.

A medical team at G Kuppuswamy Naidu Memorial Hospital (GKNM), Coimbatore, performed the procedure on the boy diagnosed with a deficiency of MALT1 (mucosa-associated lymphoid tissue lymphoma translocation protein 1), a protein crucial for the immune system’s function.

This rare disorder resulted in a defective immune system from birth, which led to recurrent fungal and viral infections, including flexural candidiasis and cytomegalovirus. Tragically, the boy’s three older siblings had previously died from similar infections before reaching one year of age due to the lack of a diagnosis and access to appropriate treatment, according to a release from the hospital.

The parents brought the child to the Coimbatore hospital and a multidisciplinary team of specialists identified significant challenges to a standard hematopoietic stem cell (multipotent immature cells that can develop into all types of blood cells) transplant.

Since there was no scope for matched donor hematopoietic cell transplantation, the team performed a haploidentical (half-matched) transplant, using the child’s mother as the donor. However, the child had developed donor-specific antibodies against both parents, who were the only possible donors, it said.

The antibody titers in the baby decreased after desensitisation, a procedure involving removal of antibodies using Rituximab immunotherapy, plasmapheresis and donor derived platelets.

According to the medical team, stem cells from the mother were used after ex-vivo T cell depletion (TCR alpha beta depletion), a procedure to reduce the risk of graft-versus-host disease and graft failure, for the transplantation. The medical team had to tackle cytomegalovirus infection even before engraftment – the process of white blood cells received from the donor beginning to produce new cells in the receiver.

Since the drug (Ganciclovir) used for treatment of cytomegalovirus infection is toxic to bone marrow function, the child was given donor-derived white blood cells responsible for immune recovery (CD45 RO or memory T cells) and immunoglobulin replacement therapy for three months.

The hospital stated that the child’s immune system fully recovered after the treatment and he was completely cured. The hospital claimed that the procedure done on the baby was the first of its kind in India for MALT1 deficiency and the first globally to use the technique of donor T cell removal from stem cells and add-back of memory cells for antiviral immunity in a haploidentical bone marrow transplantation.

The Hans Foundation, a public charitable trust, bore the entire treatment cost.