Perrard N, Pokeerbux M R, Quesnel B, Duployez N, Fenwarth L, Preudhomme C, Lefèvre G, Baillet C, Launay D, Terriou L
U1286 - 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.
Service de médecine, clinique Sainte-Clotilde, 97400 Saint-Denis, Réunion.
Rev Med Interne. 2022 Nov;43(11):677-682. doi: 10.1016/j.revmed.2022.08.007. Epub 2022 Aug 28.
Heterozygous germline mutations of GATA2 gene (guanine-adenine-thymine-adenine binding protein 2) are hereditary mutations that can be pathogenic, sometimes occurring sporadically, responsible for a florid clinical-biological picture, sometimes serious and quickly leading to the death.
We reported two women and one man with germline mutations in the GATA2 gene. The first patient, aged 19, initially presented with monocytopenia and chronic lymphedema of the four limbs, suggestive of Emberger syndrome. The second patient, 28-years-old, presented with a disseminated atypical mycobacterium (Mycobacterium kansasii) infection, raising suspicion of an immune deficiency such as MonoMAC syndrome (deficiency syndrome of dendritic cells, monocytes, B lymphocytes and NK cells). The last patient, 30-years-old, presented with pancytopenia, leading to the diagnosis of a family form of myelodysplastic syndromes and acute myeloid leukemia characterized by a mutation of the GATA2 gene.
Each case illustrates a typical clinical presentation of GATA2 deficiency, although the evolution of these syndromes ultimately reveals a complex, heterogeneous and intricate picture of hematological, dermatological, infectious, pulmonary, ENT or oncological symptoms. Mutations in the GATA2 gene remain a diagnostic and therapeutic challenge for the internist, and require multidisciplinary management given the florid picture that can be of interest to all specialties. The clinical spectrum of these GATA2 mutations as well as the latest management recommendations from the recent litterature and the "GATA2 club" are described in this article.
GATA2基因（鸟嘌呤 - 腺嘌呤 - 胸腺嘧啶 - 腺嘌呤结合蛋白2）的杂合种系突变是遗传性突变，可能具有致病性，有时为散发性，可导致明显的临床生物学表现，有时情况严重并迅速导致死亡。
我们报告了两名女性和一名男性存在GATA2基因种系突变。第一名患者，19岁，最初表现为单核细胞减少和四肢慢性淋巴水肿，提示为恩伯格综合征。第二名患者，28岁，出现播散性非典型分枝杆菌（堪萨斯分枝杆菌）感染，引发对免疫缺陷如单核细胞减少伴巨噬细胞功能障碍综合征（树突状细胞、单核细胞、B淋巴细胞和NK细胞缺陷综合征）的怀疑。最后一名患者，30岁，出现全血细胞减少，导致诊断为以GATA2基因突变为特征的家族性骨髓增生异常综合征和急性髓系白血病。
每个病例都说明了GATA2缺乏的典型临床表现，尽管这些综合征的演变最终呈现出复杂、异质性且错综复杂的血液学、皮肤病学、感染性、肺部、耳鼻喉科或肿瘤学症状。GATA2基因突变对内科医生来说仍然是诊断和治疗上的挑战，鉴于其明显的症状可能涉及所有专科，需要多学科管理。本文描述了这些GATA2突变的临床谱以及近期文献和“GATA2俱乐部”的最新管理建议。
