GATA2 deficiency presenting with Hodgkin's lymphoma and cryptogenic organizing pneumonia: a case report of two siblings

These cases highlight the variability of clinical presentations in GATA2 deficiency and underscore the importance of considering rare or atypical manifestations. Our observations suggest that Hodgkin lymphoma and COP may rarely occur in the setting of GATA2 deficiency, but further studies are needed to clarify any potential associations. Misclassification of infectious and hematologic disorders can lead to inappropriate treatment and poor outcomes, as in the first case. These observations support considering early genetic testing in patients with unexplained cytopenias, recurrent infections, or atypical pulmonary disease, particularly with a suggestive family history. Early recognition allows timely intervention, personalized surveillance, and potential curative strategies such as hematopoietic stem cell transplantation. Further research is needed to clarify mechanisms linking GATA2 mutations to lymphoproliferative and pulmonary disorders, improving diagnosis and therapy.