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Updated: Aug 30, 2025
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
[GATA2 gene mutations: 3 cases]
N Perrard1, M R Pokeerbux2, B Quesnel3
1U1286 - INFINITE - Institute for translational research in inflammation, university Lille, 59000 Lille, France; Inserm, 59000 Lille, France; Département de médecine interne et immunologie clinique, CHU Lille, 59000 Lille, France; Centre de référence des maladies autoimmunes et autoinflammatoires rares (CERAINO), 59000 Lille, France.
Germline mutations in the guanine-adenine-thymine-adenine binding protein 2 (GATA2) gene cause a range of serious conditions, including Emberger syndrome and MonoMAC syndrome. Early diagnosis and multidisciplinary management are crucial for these complex GATA2 deficiency syndromes.
Area of Science:
- Genetics
- Hematology
- Immunology
Background:
- Germline mutations in the guanine-adenine-thymine-adenine binding protein 2 (GATA2) gene are pathogenic and can occur sporadically.
- GATA2 mutations are associated with a wide spectrum of clinical manifestations, some severe and rapidly fatal.
Observation:
- Three cases are presented: a 19-year-old with monocytopenia and lymphedema (Emberger syndrome), a 28-year-old with disseminated Mycobacterium kansasii infection (MonoMAC syndrome), and a 30-year-old with pancytopenia (myelodysplastic syndromes/acute myeloid leukemia).
- Each patient exhibited distinct clinical presentations indicative of GATA2 deficiency.
Findings:
- GATA2 deficiency presents with a complex and heterogeneous array of hematological, dermatological, infectious, pulmonary, ENT, and oncological symptoms.
- The reported cases highlight the diverse clinical spectrum associated with GATA2 gene mutations.
Implications:
- GATA2 gene mutations pose significant diagnostic and therapeutic challenges, necessitating a multidisciplinary approach for effective patient management.
- Understanding the full clinical spectrum and adhering to updated management recommendations are vital for addressing GATA2 deficiency.
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