Abstract
RATIONALE: Mutations in the guanine-adenine-thymine-adenine 2 (GATA2) gene can lead to immunodeficiency and haematological diseases, including acute myeloid leukaemia (AML). Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has been reported to impair immune function, but its effects on GATA2 mutation carriers remain unclear. This study reports a rare case of persistent immunodeficiency in a child with AML and GATA2 mutation after SARS-CoV-2 infection, emphasizing the role of viral infection in immune dysfunction in such patients. PATIENT CONCERNS: A 9-year-old AML patient developed fever, cough, persistent immunodeficiency, and recurrent severe infections after SARS-CoV-2 infection in haematological remission. DIAGNOSES: The patient was diagnosed with AML-M2 with germline GATA2 mutation. After chemotherapy, he achieved haematological remission. After SARS-CoV-2 infection, he showed significant immunodeficiency manifestations and recurrent infections. INTERVENTIONS: The patient received combined chemotherapy based on CALSIII-AML18 and achieved haematological remission. After SARS-CoV-2 infection, comprehensive treatments - for example, antiviral (Paxlovid), antibacterial, antifungal, and hormonal therapies - were used to support immune function. The patient completed HLA matching for allogeneic hematopoietic stem cell transplantation and is scheduled to undergo transplantation. OUTCOMES: Despite various immune support treatments after SARS-CoV-2 infection, the patient still had persistent immune deficiency and recurrent infections (e.g., pneumonia and hepatitis B). The patient is currently stable and waiting for hematopoietic stem cell transplantation. LESSONS: For AML patients with GATA2 mutation who achieve remission, SARS-CoV-2 infection may still trigger severe and persistent immunodeficiency, leading to serious infections and affecting prognosis. Therefore, early identification of GATA2 mutations and early implementation of hematopoietic stem cell transplantation are key to improving prognoses.