Division of Pediatrics Immunology and Allergy, Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
J Investig Allergol Clin Immunol. 2009;19(6):494-6.
T-B-NK+ severe combined immunodeficiency (SCID) is an autosomal recessive disease that is caused mainly by a defect in the recombination activating genes (RAG). Patients with SCID usually experience life-threatening opportunistic infections in early infancy and complications after vaccination with bacille Calmette-Guérin (BCG). We report a patient of consanguineous parents who was referred to our center with subaxillary lymphadenitis and respiratory distress. Laboratory studies confirmed the diagnosis of T-B-NK+ SCID and molecular studies revealed homozygous mutations in the RAG2 gene. The patient died despite administration of antituberculosis drugs, antibiotics, and intravenous immunoglobulin. Inoculation of live vaccines such as BCG should be postponed in families with a positive history of SCID until screening tests rule out this condition.
T-B-NK+ 严重联合免疫缺陷（SCID）是一种常染色体隐性疾病，主要由重组激活基因（RAG）缺陷引起。SCID 患者通常在婴儿早期经历危及生命的机会性感染，并在接种卡介苗（BCG）后出现并发症。我们报告了一名来自近亲家庭的患者，他因腋下淋巴结炎和呼吸窘迫而被转介到我们中心。实验室研究证实了 T-B-NK+ SCID 的诊断，分子研究显示 RAG2 基因纯合突变。尽管给予了抗结核药物、抗生素和静脉注射免疫球蛋白，患者还是死亡了。在有 SCID 阳性家族史的家庭中，应推迟接种活疫苗，如 BCG，直到筛查试验排除这种情况。
