Severe Combined Immunodeficiency with B-lymphocytes (T-B+SCID): Report of Two Cases

具B淋巴球之嚴重複合性免疫不全症：二病例報告

林振實(Jenn-Shyr Lin) ； 徐世達(Shyh-Dar Shyur) ； 林鴻灜(Horng-Yung Lin)

《Acta Paediatrica Sinica》 39卷6期 (1998/12) Pp. 406-411

https://doi.org/10.7097/APS.199812.0406

摘要

在台灣，嚴重複合性免疫不全症是一種少見的小兒科急症。唯有早期發現，早期治療，才能解救這種危險病童的生命。早期發現的線索包含了(1)嬰兒夭折的家庭史，(2)淋巴腺及扁桃腺缺失，(3)頑固性皮盧黴菌感染，以及(4)淋巴球數目降低。嚴重複合性免疫不全症是一群先天性的疾病統稱，細胞性及體液性免疫能力同時産生缺陷。根據週邊B型淋巴球的多寡，嚴重複合性免疫不全症可粗分爲兩大類：(1)B型淋巴球增多嚴重複合性免疫不全症。兩位病童都是因爲肺功能下降導致氧氣缺乏而轉送到巴偕醫院兒科加護病房救治。兩位病童均有嬰兒夭折的家族史。住院後的免疫功能檢查顯示出兩位病童T型淋巴球及NK細胞減少，B型淋巴球數目增加，以及血液中抗體減少。這是B型淋巴球增多嚴重複合性免疫不全症的典型表現。B型淋巴球增多嚴重複合性免疫不全症可細分爲性聯遺傳嚴重複合性免疫不全症及Jak-3缺乏嚴重複合性免疫不全症。骨髓移植是目前B型淋巴球增多嚴重複合性免疫不全症唯有效的治療方法。很不幸，這兩位病童都因爲嚴重的感染，無法接受骨髓移植。最後均告死亡。

關鍵字

具B型淋巴球之嚴重複合性免疫不全症 ； 性聯遺傳嚴重複合性免疫不全症 ； Jak-3缺乏嚴重複合性免疫不全症 ； 骨髓移植

並列摘要

Severe combined immunodeficiency (SCID) is a rare pediatric medical emergency in Taiwan. The early diagnosis of infants with SCID is very important because it can save the life of these critical infants. The essential clues important for early diagnosis of SCID patients include positive family history of early infant death, paucity of tonsil and lymphoid tissue, cutaneous fun gal infection and lymphopenia. Severe combined immunodeficiency is a heterogeneous group of inherited disorders characterized by the failure of both cellular and humoral immunity. It can be categorized into SCID with B- lymphocytes predominant (T-B+SCID) and SCID with paucity of B-lymphocytes (T-B-SCID), according to the number of B-lymphocytes in the patient’s peripheral circulation. We report two male infants with T-B+SCID who had been suffering from severe pulmonary distress with persistent O2 desaturation when they were transferred to our pediatric intensive care unit. Tracing back these infants family histories, it was discovered that both of them had an elder brother who had died of overwhelming infection within the first year of life, and Pneumocystis carinii pneumonitis (PCP) was confirmed in the elder brother of case 2. After hospitalization, the immune condition of these two infants were evaluated which showed a decrease in T-cell and NK cell number, an increase in B-cell number, and decreased serum levels of all the Igs except 1gM, which was elevated in case 1. These were the diagnostic immunological findings for T-B+SCID, which included X-linked SCID and Jak-3 -deficient SCID. During hospitalization, severe mucocutaneous candidiasis and PCP were noted and confirmed in case 1 and PCP was highly suspected in case 2. Bone marrow transplantation, the only curable treatment for T-B+SCID at present, could not be performed in these two patients because of their grave clinical condition. Both of them expired due to their progressively downhill pulmonary conditions.

並列關鍵字

T-B+SCID ； X-linked SCID ； Jak-3 deficient SCID ； Pneumocystis carinii pneumonitis ； bone marrow transplantation