Rare diseases often result in delays in diagnosis. It is important to recognize conditions that have features of both inborn errors of immunity and predispose to myeloid neoplasia. Here we report a patient with GATA2 deficiency that presented with disseminated non-tuberculous mycobacterial infection and pancytopenia secondary to myelodysplastic syndrome.
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| http://dx.doi.org/10.1002/ccr3.7075 | DOI Listing |
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GATA2 deficiency is an autosomal dominant germline disorder of immune dysfunction and bone marrow failure with a high propensity for leukemic transformation. While sequencing studies have identified several secondary mutations thought to contribute to malignancy, the mechanisms of disease progression have been difficult to identify due to a lack of disease-specific experimental models. Here, we describe a murine model of one of the most common GATA2 mutations associated with leukemic progression in GATA2 deficiency, Gata2.
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Article Synopsis
- GATA2 deficiency is an autosomal dominant condition that increases the risk of severe infections and can lead to hemophagocytic lymphohistiocytosis (HLH), prompting a review of case studies linking the two.
- The systematic review analyzed 15 studies published between 2016 and 2024, including data from 23 patients aged 7 to 57, revealing various genetic mutations and infections contributing to HLH.
- Out of 8 patients who underwent hematopoietic stem cell transplantation (HSCT) for this condition, 6 survived while 2 did not, indicating some potential for successful treatment despite the severity of the disease.
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