AUTOINFLAMMATORY DISEASES IN HEMATOLOGY FROM DIAGNOSIS TO TREATMENT

AUTOINFLAMMATORY_DISEASES_IN_HEMATOLOGY_FROM_DIAGNOSIS_TO_TREATMENTkapak

GATA-2 DEFICIENCY

Cemaleddin Öztürk

Mersin Training and Research Hospital, Department of Hematology, Mersin, Türkiye

Öztürk C. GATA-2 Deficiency. In: Kurt Yüksel M, editor. Autoinflammatory Diseases in Hematology from Diagnosis to Treatment. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.51-58.

ABSTRACT

GATA-2 deficiency syndrome is a rare immunodeficiency disorder that affects the hematopoietic system. It has been identified since 1972. The true incidence and prevalence of GATA-2 deficiency syndrome are unknown, but it has been documented in 22 cases or families. The syndrome typically manifests in early adulthood or at the end of adolescence, with T lymphocytes generally remaining intact but deficiencies in monocytes, B lymphocytes, and NK cells evident. GATA-2 is most highly expressed in early hematopoietic cells and has a decreasing expression pattern with maturation. Inadequate expression reduces the self-renewal capacity of other hematopoietic stem cells (HSC), leading to deafness, lymphedema, and autoimmune disorders. Impaired lymphatic circulation and increased thrombosis in GATA-2 deficiency are also associated with secondary cancers and infections. Allogeneic hematopoietic stem cell transplantation (Allo-HCT) is the only curative treatment for GATA-2 deficiency syndrome, but its optimal timing remains a subject of debate due to treatment-related mortality and morbidity. Indications for allo-HCT in GATA-2 deficiency syndrome include the development of MDS/AML, recurrent life-threatening infections, progressive deterioration in lung function associated with PAP, and the presence of virus-related recurrent precancerous lesions or malignancies. There is no consensus on antibiotic prophylaxis in GATA-2 deficiency syndrome, but some sources recommend azithromycin prophylaxis for patients scheduled to undergo Allo-HCT. Intravenous immunoglobulin therapy may be considered for patients with hypogammaglobulinemia, and patients receiving the HPV vaccine before the development of precancerous lesions is recommended. Following up and prognosis are crucial for patients with GATA-2 deficiency syndrome, which should be conducted in experienced centers using a multidisciplinary approach. In conclusion, the study highlights the importance of understanding the genetic disorders associated with GATA2 mutations and their potential impact on various aspects of life. The study also emphasizes the need for further research and treatment strategies to address these genetic disorders.

Keywords: GATA2 deficiency; GATA transcription factors; GATA2 protein

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