GATA2 and marrow failure.

Francesco Fabozzi, Luisa Strocchio, Angela Mastronuzzi, Pietro Merli

Journal: Best practice & research. Clinical haematology 2022;34(2):101278

PMID: 34404529

Full Text on Elsevier Science View on PubMed

Abstract

GATA2 gene encodes a zinc finger transcription factor crucial for normal hematopoiesis. Its haploinsufficiency, caused by a great variety of heterozygous loss-of-function mutations, underlies one of the most common causes of inherited bone marrow failure, recognized as GATA2 deficiency. Its phenotype is characterized by a broad spectrum of clinical presentations, including: haematological malignancies; immunodeficiency leading to invasive viral, mycobacterial and fungal infections; recurrent warts; lymphedema; pulmonary alveolar proteinosis; deafness; and miscarriage. The onset of symptoms ranges from early childhood to late adulthood, more frequently between adolescence and early adulthood. The only curative treatment is allogenic hematopoietic stem cell transplantation (HSCT), that can restore the function of both hematopoietic and immune system and prevent lung deterioration. Currently, there are no consensus guidelines about the management of patients affected by GATA2 deficiency, especially with regard to the optimal time to proceed to HSCT.

Address: Department of Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy. Electronic address: [email protected].; Department of Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy. Electronic address: [email protected].; Department of Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy. Electronic address: [email protected].; Department of Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, 00165, Rome, Italy. Electronic address: [email protected].

DOI: 10.1016/j.beha.2021.101278

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MeSH Terms: Adult, Bone Marrow, Child, Preschool, GATA2 Deficiency, GATA2 Transcription Factor, Hematopoietic Stem Cell Transplantation, Humans, Immunologic Deficiency Syndromes, Neoplasm Recurrence, Local