Yeganeh Mehdi, Heidarzade Marzieh, Pourpak Zahra, Parvaneh Nima, Rezaei Nima, Gharagozlou Mohammad, Movahedi Masoud, Shabestari Mahnaz Sadeghi, Mamishi Setareh, Aghamohammadi Asghar, Moin Mostafa
Immunology, Asthma and Allergy Research Institute, Division of Allergy and Clinical Immunology, Children's Medical Centre, Medical Sciences/University of Tehran, Tehran, Iran.
Pediatr Allergy Immunol. 2008 Jun;19(4):303-6. doi: 10.1111/j.1399-3038.2007.00647.x. Epub 2007 Dec 18.
Severe Combined Immunodeficiency (SCID) consists of a heterogeneous group of genetic disorders characterized by an arrest in T lymphocyte development which is variably associated with an abnormal differentiation of B and NK cells. In order to depict the clinical state of Iranian patients with SCID, records of forty patients were reviewed. Patients were classified based on the flow cytometry data in two groups of B- and B+. In thirty two families (80%) parents were consanguine and in 17 families (50%) there were affected members other than proband. We showed that autosomal forms of SCID might be more frequent due to higher rate of consanguineous marriages. Alongside several infective complications, complicated Bacillus Calmette-Guérin (BCG) vaccination was documented in 18 cases (45%) following the routine vaccination at birth. BCG immunization is still a part of standard vaccination for newborns in developing countries; whereas in communities with a better health condition it could be held for a few months and performed for kids whose immune system sounds intact. We discuss where consanguine mating is common, a test of screening should be run timely. A complete blood count of cord blood could reveal lymphocytopenia at birth; this helps early diagnosis. Genetic consultation would help the families with affected members preventing new SCID offspring.
重症联合免疫缺陷（SCID）是一组异质性遗传疾病，其特征是T淋巴细胞发育停滞，并不同程度地伴有B细胞和自然杀伤（NK）细胞分化异常。为描述伊朗SCID患者的临床状况，我们回顾了40例患者的记录。根据流式细胞术数据，患者被分为B -和B +两组。在32个家庭（80%）中，父母为近亲结婚，17个家庭（50%）除先证者外还有其他患病成员。我们发现，由于近亲结婚率较高，常染色体形式的SCID可能更为常见。除了几种感染性并发症外，18例（45%）患者在出生时常规接种卡介苗（BCG）后出现了BCG接种并发症。在发展中国家，BCG免疫接种仍是新生儿标准疫苗接种的一部分；而在健康状况较好的社区，可在几个月后对免疫系统看似正常的儿童进行接种。我们讨论了在近亲通婚常见的地区，应及时进行筛查检测。脐血全血细胞计数可在出生时发现淋巴细胞减少，这有助于早期诊断。遗传咨询将帮助有患病成员的家庭预防新的SCID后代。
