A 33-year-old woman, 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, underwent Bone Marrow Transplant (BMT) at a private hospital recently.

Madhumitha R, senior consultant, Infectious Diseases and Infection Control, MGM Cancer Institute, said that two years ago, the patient had approached her for complaints of recurrent fever and a non tuberculous mycobacterial infection that kept recurring. Diagnosed with GATA2 primary immunodeficiency, she was referred to Gopinathan, consultant, Hemato-Oncology, MGM Cancer Institute.

GATA2, if left untreated, can significantly increase the risk of developing serious bone marrow diseases such as myelodysplastic syndrome, a disorder in which the bone marrow produces poorly formed or dysfunctional blood cells, or acute myeloid leukemia, an aggressive cancer marked by the rapid growth of abnormal white blood cells in the blood and bone marrow, according to a press release.

“The patient was in the in-between stage. She needed BMT through which healthy stem cells can be diffused in her body,” Dr. Gopinathan said. A search for donors in her family did not fetch the desired results – her sister too had tuberculosis, her father had passed away, leaving only her mother, a half-matched donor. Stem cell registries too did not have a match for her, he added.

Doctors performed a haploidentical transplant with her mother as the donor. There were multiple challenges for the patient. She had pulmonary alveolar proteinosis restricting her lung functions and disseminated non tubercular mycobacterial infection. “Three months after transplant, we took a scan and found significant resolution of the lymph nodes,” Dr. Gopinathan added. The patient said that she had consulted nearly 60 doctors, underwent numerous tests to find a solution for her 13-year-long struggle with recurrent illnesses.

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 two per cent of cases presenting in adulthood, according to the release.