Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
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DOI：
10.1097/md.0b013e3181fd8ec3
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发表时间：
2010-11
期刊：
影响因子：
1.6
通讯作者：
Casanova JL
中科院分区：
文献类型：
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作者：
Picard C;von Bernuth H;Ghandil P;Chrabieh M;Levy O;Arkwright PD;McDonald D;Geha RS;Takada H;Krause JC;Creech CB;Ku CL;Ehl S;Maródi L;Al-Muhsen S;Al-Hajjar S;Al-Ghonaium A;Day-Good NK;Holland SM;Gallin JI;Chapel H;Speert DP;Rodriguez-Gallego C;Colino E;Garty BZ;Roifman C;Hara T;Yoshikawa H;Nonoyama S;Domachowske J;Issekutz AC;Tang M;Smart J;Zitnik SE;Hoarau C;Kumararatne DS;Thrasher AJ;Davies EG;Bethune C;Sirvent N;de Ricaud D;Camcioglu Y;Vasconcelos J;Guedes M;Vitor AB;Rodrigo C;Almazán F;Méndez M;Aróstegui JI;Alsina L;Fortuny C;Reichenbach J;Verbsky JW;Bossuyt X;Doffinger R;Abel L;Puel A;Casanova JL
常染色体隐性遗传白介素1受体相关激酶(IRAK)-4和髓系分化因子(MyD)88缺陷会损害Toll样受体(TLR)和白介素1受体介导的免疫。我们记录了来自15个国家37个家系的48名IRAK-4缺乏症患者和12名MyD88缺乏症患者的临床特征和结果。IRAK-4缺乏症和MyD88缺乏症的临床特征难以区分。没有严重的病毒、寄生虫病和真菌病，细菌感染的范围很窄。52例患者发生非侵袭性细菌感染，上呼吸道和皮肤感染发生率较高，主要由铜绿假单胞菌和金黄色葡萄球菌引起。主要威胁是侵袭性肺炎球菌病，记录有41名患者(68%)，并导致72例有记录的侵袭性感染(52.2%)。铜绿假单胞菌和葡萄球菌。金黄色葡萄球菌记录的侵袭性感染也有发生(分别为16.7%和16%，分别为25%和25%)。全身炎症的迹象通常较弱或延迟。首次侵袭性感染发生在2岁以下者53例(88.3%)，新生儿期19例(32.7%)。大多数幸存者(n=36/50，72%)有多次或反复的侵袭性感染。
Autosomal recessive interleukin-1 receptor-associated kinase (IRAK)-4 and myeloid differentiation factor (MyD)88 deficiencies impair Toll-like receptor (TLR)- and interleukin-1 receptor-mediated immunity. We documented the clinical features and outcome of 48 patients with IRAK-4 deficiency and 12 patients with MyD88 deficiency, from 37 kindreds in 15 countries. The clinical features of IRAK-4 and MyD88 deficiency were indistinguishable. There were no severe viral, parasitic, and fungal diseases, and the range of bacterial infections was narrow. Noninvasive bacterial infections occurred in 52 patients, with a high incidence of infections of the upper respiratory tract and the skin, mostly caused by Pseudomonas aeruginosa and Staphylococcus aureus, respectively. The leading threat was invasive pneumococcal disease, documented in 41 patients (68%) and causing 72 documented invasive infections (52.2%). P. aeruginosa and Staph. aureus documented invasive infections also occurred (16.7% and 16%, respectively, in 25% and 25% of patients). Systemic signs of inflammation were usually weak or delayed. The first invasive infection occurred before the age of 2 years in 53 (88.3%) and in the neonatal period in 19 (32.7%) patients. Multiple or recurrent invasive infections were observed in most survivors (n = 36/50, 72%).