临床特征和IRAK-4和MyD88缺乏症患者的结果。
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皮卡德C·冯·Bernuth H, Ghandil P, Chrabieh M,利维啊,阿克赖特PD,麦当劳D,格哈RS,高田H, Krause JC,克里奇CB, Ku CL, Ehl年代,Marodi L, Al-Muhsen年代,Al-Hajjar年代,Al-Ghonaium,每天好NK,荷兰SM, Gallin霁,教堂H, Speert DP, Rodriguez-Gallego C, Colino E, Garty, Roifman C, Hara T, Yoshikawa H, Nonoyama年代,Domachowske J, Issekutz AC,唐米,聪明的J, Zitnik SE, Hoarau C, Kumararatne DS,脱粒机AJ,戴维斯如白求恩C, Sirvent N, de Ricaud D, Camcioglu Y,塞·伐斯冈萨雷斯J,他古埃德米,康AB,罗德里戈·C, Almazan F,门德斯M, Arostegui霁,Alsina L, Fortuny C,赖兴巴赫J, Verbsky JW, Bossuyt X,落纱R,亚伯L, Puel,卡萨诺瓦莱托
临床特征和IRAK-4和MyD88缺乏症患者的结果。
医学(巴尔的摩)。2010年11月,89(6):403 - 25所示。doi: 10.1097 / MD.0b013e3181fd8ec3。
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21057262 (在PubMed]
- 文摘
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常染色体隐性receptor-associated激酶4(伊拉克的)及骨髓分化因子(MyD) 88缺陷损害toll样受体(TLR) -和interleukin-1受体介导免疫。我们记录的临床特征和结果48 IRAK-4缺乏症患者和12 MyD88缺乏症患者,来自37个家族在15个国家。IRAK-4的临床特征和MyD88缺陷是没有区别的。没有严重的病毒、寄生虫和真菌疾病,和细菌感染的范围很窄。非侵入性细菌感染发生在52例,上呼吸道感染的发病率高,皮肤,主要由铜绿假单胞菌和金黄色葡萄球菌,分别。最主要的威胁是侵入性肺炎球菌病,记录了41例(68%),导致72年记录的侵入性感染(52.2%)。铜绿假单胞菌和金黄色葡萄球菌。球菌记录侵入性感染也发生(分别为16.7%和16%,在13和13个病人,分别)。系统性炎症的迹象通常是弱或延误。第一次侵入性感染发生在2年53岁之前在新生儿期(88.3%),19例(32.7%)患者。多个或复发性侵袭性感染观察在大多数幸存者(n = 36/50, 72%)。Clinical outcome was poor, with 24 deaths, in 10 cases during the first invasive episode and in 16 cases of invasive pneumococcal disease. However, no death and invasive infectious disease were reported in patients after the age of 8 years and 14 years, respectively. Antibiotic prophylaxis (n = 34), antipneumococcal vaccination (n = 31), and/or IgG infusion (n = 19), when instituted, had a beneficial impact on patients until the teenage years, with no seemingly detectable impact thereafter.IRAK-4 and MyD88 deficiencies predispose patients to recurrent life-threatening bacterial diseases, such as invasive pneumococcal disease in particular, in infancy and early childhood, with weak signs of inflammation. Patients and families should be informed of the risk of developing life-threatening infections; empiric antibacterial treatment and immediate medical consultation are strongly recommended in cases of suspected infection or moderate fever. Prophylactic measures in childhood are beneficial, until spontaneous improvement occurs in adolescence.