Pediatric Clinic, Mother & Child Health Institute "Dr Vukan Čupić", Belgrade, Serbia,
J Clin Immunol. 2014 Apr;34(3):304-8. doi: 10.1007/s10875-014-9991-9. Epub 2014 Feb 1.
Severe combined immunodeficiency (SCID), including the 'variant' Omenn syndrome (OS), represent a heterogeneous group of monogenic disorders characterized by defect in differentiation of T- and/or B lymphocytes and susceptibility to infections since birth. In the period of 25 years, between January 1986 and December 2010, a total of 21 patients (15 SCID, 6 OS) were diagnosed in Mother & Child Health Institute of Serbia, a tertiary-care teaching University hospital and a national referral center for patients affected with primary immunodeficiency (PID). The diagnoses were based on anamnestic data, clinical findings, and immunological and genetic analysis. The median age at the onset of the first infection was the 2nd month of life. Seven (33 %) patients had positive family history for SCID. Out of five male infants with T-B+NK- SCID phenotype, mutation analysis revealed interleukin-2 (common) gamma-chain receptor (IL2RG) mutations in 3 with positive X-linked family history, and Janus-kinase (JAK)-3 gene defects in the other two. Six patients had T-B-NK+ SCID phenotype and further 6 features of OS, 11 of which had recombinase-activating gene (RAG1or RAG2) and 1 Artemis gene mutations. One child with T+B+NK+ SCID phenotype as well had proven RAG mutation. One child each with T-B+NK+ SCID phenotype, CD8 lymphopenia and unknown phenotype remained without known underlying genetic defect. Of the eight patients who underwent hematopoetic stem cell transplant (HSCT) 5 survived, the other 13 died between 2 days and 12 months after diagnosis was made. Early diagnosis of SCID, before onset of severe infections, offers possibility for HSCT and cure. Education of primary-care pediatricians, in particular including awareness of the risk of using live vaccines and non-irradiated blood products, should improve prognosis of SCID in our setting.
严重联合免疫缺陷（SCID），包括“变异”的 Omenn 综合征（OS），代表一组异质性的单基因疾病，其特征是 T 和/或 B 淋巴细胞分化缺陷，并从出生起就易感染。在 25 年期间，即 1986 年 1 月至 2010 年 12 月期间，在塞尔维亚母婴健康研究所，一家三级保健教学大学医院和国家原发性免疫缺陷（PID）患者转诊中心，共诊断出 21 例患者（15 例 SCID，6 例 OS）。这些诊断基于病史资料、临床发现以及免疫和遗传分析。首次感染的中位发病年龄为出生后第 2 个月。7 例（33%）患者有 SCID 的阳性家族史。在 5 例 T-B+NK- SCID 表型的男性婴儿中，3 例具有阳性 X 连锁家族史的白细胞介素-2（共同）γ-链受体（IL2RG）突变，另外 2 例存在 Janus-kinase（JAK）-3 基因突变。6 例患者具有 T-B-NK+ SCID 表型，进一步有 6 例具有 OS 特征，其中 11 例有重组激活基因（RAG1 或 RAG2）和 1 例 Artemis 基因突变。1 例 T+B+NK+ SCID 表型患儿也证实存在 RAG 突变。1 例 T-B+NK+ SCID 表型、CD8 淋巴细胞减少和未知表型的患儿仍然没有已知的潜在遗传缺陷。在接受造血干细胞移植（HSCT）的 8 例患者中，5 例存活，另外 13 例在诊断后 2 天至 12 个月内死亡。在严重感染发生之前，对 SCID 进行早期诊断，为 HSCT 和治愈提供了可能。对初级保健儿科医生进行教育，特别是提高对使用活疫苗和未辐照血液制品风险的认识，应该可以改善我们地区 SCID 的预后。
