GATA2: a small gene with big impact - a case report and literature review

We present a case of GATA2 deficiency in a young adult with recurrent infections, highlighting uncommon clinical manifestations including persistent eosinophilia and primary sclerosing cholangitis, to raise awareness of this underdiagnosed condition and emphasize the importance of early diagnosis.

We describe the clinical presentation, immunological and hematological work-up, molecular genetic testing and clinical course of a 21-year-old patient referred for immunological consultation due to recurrent infections, complemented by a narrative review of the literature on GATA2 deficiency.

The patient presented with three episodes of pneumonia, persistent diffuse warts and molluscum contagiosum. Hematological evaluation revealed profound monocytopenia, mild eosinophilia, an inverted CD4/CD8 ratio, and B- and NK-lymphopenia. Bone marrow examination showed hypercellularity with mild dysplastic features in the myeloid and megakaryocytic series. On molecular testing, a pathogenic GATA2 variant was found alongside two additional STAG2 variants. Germline analysis confirmed a de novo heterozygous GATA2 variant, consistent with GATA2 deficiency. Notably, beyond the characteristic immunological features, persistent eosinophilia and hepatobiliary abnormalities compatible with primary sclerosing cholangitis were also present, representing uncommon features in the context of GATA2 deficiency. The patient subsequently underwent allogeneic hematopoietic stem cell transplantation, currently the sole curative treatment.

GATA2 deficiency is a complex disorder with a broad clinical spectrum, including immunodeficiency and increased risk of hematological malignancies. Early recognition, as illustrated in this case, is essential to improve prognosis and facilitate genetic counselling. Clinicians should maintain a high index of suspicion in young adults presenting with recurrent infections, persistent warts and cytopenia.