Chennai, 23rd July 2025: MGM Cancer Institute successfully performed a life-saving bone marrow transplant (BMT) on 33-year-old Ms. Janani, who was diagnosed with GATA2 primary immunodeficiency, a rare genetic disorder that weakens the immune system by impairing the production of essential blood and immune cells.

Bone marrow transplant (BMT) is the only definitive cure for GATA2 primary immunodeficiency, a condition that, if left untreated, can significantly increase the risk of developing serious bone marrow diseases such as myelodysplastic syndrome (MDS), a disorder in which the marrow produces poorly formed or dysfunctional blood cells or acute myeloid leukemia (AML), an aggressive cancer marked by the rapid growth of abnormal white blood cells in the blood and bone marrow.

Despite experiencing severe infection and gut-related complications during the transplant process, Ms. Janani responded well to intensive care, achieved timely engraftment, the point at which the newly transplanted stem cells begin producing healthy blood cells, and made a full recovery, returning to normal life just three months after the procedure.

In his comments, Dr. Gopinathan, Consultant, Hemato-Oncology, MGM Cancer Institute, who led the procedure, said, “This patient had been living with GATA2-related primary immunodeficiency for nearly 24 years, enduring recurrent infections throughout her life. Bone marrow transplantation is the only definitive cure for this condition, but achieving success requires a highly individualised approach, especially in complex cases. In her case, we performed a half-matched (haploidentical) transplant, where the donor shared only 50% of her genetic profile. Such procedures are technically demanding and require precise immune modulation to ensure successful engraftment and avoid serious complications. Adding to the complexity, she also had pulmonary alveolar proteinosis restricting her lung functions and disseminated non tubercular mycobacterial infection. These factors made the transplant significantly more challenging, particularly when it came to administering chemotherapy, which had to be carefully tailored due to her compromised lung function”.

In his comments, Dr. M.A. Raja, Director and Senior Consultant, Medical Oncology, MGM Cancer Institute, said, “GATA2 immunodeficiency is an exceptionally rare form of primary immunodeficiency, especially in adults, with only about 2% of cases presenting in adulthood. It is scarcely documented in medical literature and is known for its highly variable. Due to its progressive nature, early diagnosis is often difficult but critical. Research indicates that approximately 70% of individuals with GATA2 mutations eventually go on to develop myelodysplastic syndrome or acute myeloid leukemia. Therefore, bone marrow transplantation is crucial as a potential cure, and it reduces the long-term risk of malignant transformation.”