Abstract：
GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evolving. Since it was first described in 2011, up to 500 patients have been reported. Here, we describe a cohort of 31 Italian patients (26 families) with molecular diagnosis of GATA2 deficiency. Patients were recruited contacting all the Italian Association of Pediatric Hematology and Oncology (AIEOP) centers, the Hematology Department in their institution and Italian societies involved in the field of vascular anomalies, otorhinolaryngology, dermatology, infectious and respiratory diseases. Median age at the time of first manifestation, molecular diagnosis and last follow-up visit was 12.5 (age-range, 2-52 years), 18 (age-range, 7-64 years) and 22 years (age-range, 3-64), respectively. Infections (39%), hematological malignancies (23%) and undefined cytopenia (16%) were the most frequent symptoms at the onset of the disease. The majority of patients (55%) underwent hematopoietic stem cell transplantation. During the follow-up rarer manifestations emerged. The clinical penetrance was highly variable, with the coexistence of severely affected pediatric patients and asymptomatic adults in the same pedigree. Two individuals remained asymptomatic at the last follow-up visit. Our study highlights new (pilonidal cyst/sacrococcygeal fistula, cholangiocarcinoma and gastric adenocarcinoma) phenotypes and show that lymphedema may be associated with null/regulatory mutations. Countrywide studies providing long prospective follow-up are essential to unveil the exact burden of rarer manifestations and the natural history in GATA2 deficiency.
摘要：
GATA2缺乏症是一种罕见的疾病，包括广泛可变的表型，其临床表现不断发展。自2011年首次描述以来，已报告多达500名患者。这里,我们描述了一个由31例(26个家庭)经分子诊断为GATA2缺乏症的意大利患者组成的队列.招募与所有意大利小儿血液学和肿瘤学协会（AIEOP）中心联系的患者，血液科在他们的机构和意大利社会参与血管异常领域，耳鼻咽喉科,皮肤病学,传染病和呼吸道疾病。第一次显现时的中位年龄，分子诊断和最后一次随访是12.5（年龄范围，2-52岁),18(年龄范围，7-64岁)和22岁(年龄范围，3-64），分别。感染（39%）血液恶性肿瘤（23％）和不确定的血细胞减少症（16％）是该疾病发作时最常见的症状。大多数患者（55％）接受了造血干细胞移植。在后续行动中，出现了罕见的表现。临床外显率变化很大，在同一系谱中，严重受影响的儿科患者和无症状的成年人共存。在最后一次随访中，有两个人没有症状。我们的研究强调了新的（成毛囊肿/骶尾部瘘，胆管癌和胃腺癌）表型，并表明淋巴水肿可能与无效/调节突变有关。提供长期前瞻性随访的全国研究对于揭示GATA2缺乏症的罕见表现和自然史的确切负担至关重要。
