PDF(Pubmed)
Abstract：
BACKGROUND: Severe combined immunodeficiency disease (SCID) is a rare primary immunodeficiency disease, usually manifest in the first six months of life with failure to thrive, oral thrush, recurrent respiratory infection, and chronic diarrhea.
METHODS: In three male patients, we describe an unusual presentation of SCID. They are an outcome of consanguineous marriage; all received the BCG vaccine at birth. All three cases presented with regional lymphadenopathy at three months, progressing to generalized lymphadenopathy treated with anti-tuberculous. The first and second cases were twins. The first had an uneventful history until 33 months when he developed multiple Suppurative Tuberculous lymphadenitis confirmed by biopsy. The second and the third cases were diagnosed with Disseminated Tuberculosis at 24 months as they developed fever, anemia, weight loss, tuberculous peritonitis, and lymphadenopathy confirmed by biopsy. After investigations, the first case was diagnosed as CD4, CD16 lymphopenic SCID, the second one as CD4, CD8, CD19, CD16 lymphopenic SCID with hypogammaglobulinemia and the third case as CD3, CD4, CD8 lymphopenic SCID with hypogammaglobulinemia. They received anti-Tuberculous medications, prophylactic Trimethoprim/Sulfamethoxazole, and Immunoglobulin infusion. When writing this abstract, the patients were alive and had no other bacterial, viral, or fungal infections. The twins are three years old, and the third case is 30 months old.
CONCLUSIONS: SCID may not exhibit the classical manifestation of recurrent infections. It may present only as a complication of the BCG vaccine, alarming to maintain high susceptibility in such patients, especially in a developing country, specifically in Sudan, where the BCG vaccine is usually given at birth.
METHODS: In three male patients, we describe an unusual presentation of SCID. They are an outcome of consanguineous marriage; all received the BCG vaccine at birth. All three cases presented with regional lymphadenopathy at three months, progressing to generalized lymphadenopathy treated with anti-tuberculous. The first and second cases were twins. The first had an uneventful history until 33 months when he developed multiple Suppurative Tuberculous lymphadenitis confirmed by biopsy. The second and the third cases were diagnosed with Disseminated Tuberculosis at 24 months as they developed fever, anemia, weight loss, tuberculous peritonitis, and lymphadenopathy confirmed by biopsy. After investigations, the first case was diagnosed as CD4, CD16 lymphopenic SCID, the second one as CD4, CD8, CD19, CD16 lymphopenic SCID with hypogammaglobulinemia and the third case as CD3, CD4, CD8 lymphopenic SCID with hypogammaglobulinemia. They received anti-Tuberculous medications, prophylactic Trimethoprim/Sulfamethoxazole, and Immunoglobulin infusion. When writing this abstract, the patients were alive and had no other bacterial, viral, or fungal infections. The twins are three years old, and the third case is 30 months old.
CONCLUSIONS: SCID may not exhibit the classical manifestation of recurrent infections. It may present only as a complication of the BCG vaccine, alarming to maintain high susceptibility in such patients, especially in a developing country, specifically in Sudan, where the BCG vaccine is usually given at birth.
摘要：
背景：重症联合免疫缺陷病（SCID）是一种罕见的原发性免疫缺陷病，通常在生命的前六个月表现为未能茁壮成长，口疮,反复呼吸道感染,和慢性腹泻。
方法：在三名男性患者中，我们描述了SCID的不寻常呈现。它们是近亲婚姻的结果；所有人都在出生时接种了卡介苗。所有3例病例均在3个月时出现局部淋巴结肿大，进展为全身淋巴结病，用抗结核治疗。第一和第二例是双胞胎。第一次有一个平静的历史，直到33个月，当他发展多个化脓性结核性淋巴结炎通过活检证实。第二例和第三例在24个月时因发烧而被诊断为播散性结核病，贫血,减肥,结核性腹膜炎,和活检证实的淋巴结肿大。经过调查,第一例被诊断为CD4，CD16淋巴细胞减少性SCID，第二为CD4，CD8，CD19，CD16淋巴细胞减少性SCID伴低血球蛋白血症，第三为CD3，CD4，CD8淋巴细胞减少性SCID伴低血球蛋白血症。他们接受了抗结核药,预防性甲氧苄啶/磺胺甲恶唑，和免疫球蛋白输注。在写这篇摘要的时候，病人还活着，没有其他细菌，病毒，或真菌感染。这对双胞胎三岁,第三个病例是30个月大。
结论：SCID可能没有表现出复发性感染的典型表现。它可能仅作为BCG疫苗的并发症出现，令人震惊的是，在这些患者中保持高易感性，特别是在发展中国家，特别是在苏丹，通常在出生时接种BCG疫苗。
方法：在三名男性患者中，我们描述了SCID的不寻常呈现。它们是近亲婚姻的结果；所有人都在出生时接种了卡介苗。所有3例病例均在3个月时出现局部淋巴结肿大，进展为全身淋巴结病，用抗结核治疗。第一和第二例是双胞胎。第一次有一个平静的历史，直到33个月，当他发展多个化脓性结核性淋巴结炎通过活检证实。第二例和第三例在24个月时因发烧而被诊断为播散性结核病，贫血,减肥,结核性腹膜炎,和活检证实的淋巴结肿大。经过调查,第一例被诊断为CD4，CD16淋巴细胞减少性SCID，第二为CD4，CD8，CD19，CD16淋巴细胞减少性SCID伴低血球蛋白血症，第三为CD3，CD4，CD8淋巴细胞减少性SCID伴低血球蛋白血症。他们接受了抗结核药,预防性甲氧苄啶/磺胺甲恶唑，和免疫球蛋白输注。在写这篇摘要的时候，病人还活着，没有其他细菌，病毒，或真菌感染。这对双胞胎三岁,第三个病例是30个月大。
结论：SCID可能没有表现出复发性感染的典型表现。它可能仅作为BCG疫苗的并发症出现，令人震惊的是，在这些患者中保持高易感性，特别是在发展中国家，特别是在苏丹，通常在出生时接种BCG疫苗。
