Gata2 deficiency is an autosomal dominant inborn error of immunity due to mutations in this transcription factor involved in hematopoiesis. It has a variety of clinical symptoms ranging from recurrent infections to myeloid malignancy and immunodeficiency.
The index case (IC) is the first daughter of non-consanguineous parents. Personal history: hypothyroidism, hysterectomy with right oophorectomy secondary to a uterine cancer, nephrectomy secondary to abscess, lower respiratory tract infections, chronic galactophoritis, and HPV conization. Family background: Her mother passed away from mediastinal cancer at the age of 50 years old, and two brothers died at the age of 29 and 36, one with systemic lupus erythematosus with warts and infections and the other with myelodysplastic syndrome (MDS). She also has a 24-year-old daughter who was transplanted due to MDS. The IC, at the age of 44, was referred to a regional hospital with febrile neutropenia. Multiple cultures were done, showing isolation of Histoplasma capsulatum in the bone marrow aspiration, and was referred for an immunology evaluation. Laboratory tests revealed leukopenia with normal immunoglobulin levels. Lymphocyte population: T, B, and natural killer lymphopenia, T lymphocyte subset with low naive T cells, and increased levels of central and effector memory in both profiles. With all her background, a whole exome sequence was performed, showing a c.351C>G pathogenic variant in GATA2 gene. She underwent an unrelated bone marrow transplant. The familiar segregation was performed, showing 3 affected nephews, all of them with abnormal immunological evaluations. At the time of evaluation, one of them presented with warts and HPV conization. Months later, she developed an acute myeloid leukemia currently in treatment.
In this report, we describe a familiar case of a GATA2 deficiency. This case highlights the importance of medical records, interdisciplinary working, molecular diagnosis, and familial segregation for diagnosis and treatment.
