Department of Immunology and Histocompatibility, Specific Center and Referral Center for Primary Immunodeficiencies-Paediatric Immunology, Aghia Sophia Children's Hospital, Thivon and Papadiamantopoulou Streets, 11527, Athens, Greece.
J Clin Immunol. 2011 Oct;31(5):778-83. doi: 10.1007/s10875-011-9564-0. Epub 2011 Jul 6.
Severe combined immunodeficiencies (SCID) are a heterogeneous group of genetic disorders characterized by a blockade or impairment of both cellular and humoral immunity. Several epidemiological studies in different geographic areas have shown that the most common type of SCID affecting almost half of these patients is the X-linked common γ-chain (γ(c)) deficiency. The objective of the study was to document the incidence and types of SCID in our area. We conducted a retrospective analysis of patients who were diagnosed with SCID in the major immunology center in Greece for a 20-year period. During the study period, 30 children from 27 unrelated families with final diagnosis of SCID were identified. The incidence of SCID in Greece is estimated at 1.7 cases per 100,000 live births. Out of 30 children, 19 were boys (63.3%) and 26 (86.7%) had Greek maternal origin. Lymphocyte immunophenotypes that were identified were T(-)B(-)NK(+) in 12 (40%) children, T(-)B(+)NK(-) in six (20%), T(-)B(+)NK(+) in three (10%), T(-)B(-)NK(-) in two (6.7%) and T(+)B(+/-)NK(+) in seven (23.4%) (among them, four [13.4%] females with Omenn's syndrome). Molecular diagnosis was available for 12 children: γ(c) (2) with non Greek maternal origin, Jak3 (2), Rag1 (2), Artemis (3), ADA deficiency (2), PNP deficiency (1). Out of the 26 children of Greek maternal origin diagnosed with SCID representing 23 distinct families, only two (8.7%) had lymphocyte immunophenotype compatible with γ(c)-chain gene mutation (no molecular testing or enough DNA was available for them at the time of diagnosis). Findings of the present study suggest that, for unknown reasons, mutations of the γ(c) chain of several cytokine receptors have a rare occurrence in our area.
严重联合免疫缺陷症 (SCID) 是一组遗传疾病，其特征为细胞和体液免疫的阻断或损害。在不同地理区域的几项流行病学研究表明，影响近一半此类患者的最常见 SCID 类型是 X 连锁共同γ链 (γ(c)) 缺陷。本研究的目的是记录我们地区 SCID 的发病率和类型。我们对希腊主要免疫学中心 20 年来诊断为 SCID 的患者进行了回顾性分析。在研究期间，从 27 个无关家庭中确定了 30 名最终诊断为 SCID 的儿童。希腊 SCID 的发病率估计为每 100,000 例活产儿中有 1.7 例。在 30 名儿童中，19 名是男孩 (63.3%)，26 名 (86.7%) 具有希腊母亲血统。确定的淋巴细胞免疫表型为 12 名儿童 (40%) 为 T(-)B(-)NK(+)，6 名儿童 (20%) 为 T(-)B(+)NK(-)，3 名儿童 (10%) 为 T(-)B(+)NK(+)，2 名儿童 (6.7%) 为 T(-)B(-)NK(-)，7 名儿童 (23.4%) 为 T(+)B(+/-)NK(+) (其中 4 名 [13.4%] 女性患有 Omenn 综合征)。对 12 名儿童进行了分子诊断：γ(c) (2) 为非希腊母亲血统，Jak3 (2)、Rag1 (2)、Artemis (3)、ADA 缺乏症 (2)、PNP 缺乏症 (1)。在被诊断为 SCID 的 26 名具有希腊母亲血统的儿童中，代表 23 个不同的家庭，只有 2 名 (8.7%) 具有与 γ(c) 链基因突变相容的淋巴细胞免疫表型 (在诊断时，他们没有进行分子检测或没有足够的 DNA)。本研究的结果表明，由于未知原因，几个细胞因子受体的 γ(c) 链突变在我们地区很少发生。
