Very Late-Onset Group B Streptococcus Meningitis, Sepsis, and Systemic Shigellosis due to Interleukin-1 Receptor-Associated Kinase-4 Deficiency

被引:23
作者
Krause, Jens C.
Ghandil, Pegah [3 ,4 ]
Chrabieh, Maya [3 ,4 ]
Casanova, Jean-Laurent [2 ,3 ]
Picard, Capucine [3 ,4 ,5 ]
Puel, Anne [3 ,4 ]
Creech, C. Buddy [1 ]
机构
[1] Vanderbilt Univ, Med Ctr, Div Pediat Infect Dis, Dept Pediat, Nashville, TN 37232 USA
[2] Rockefeller Univ, Lab Human Genet Infect Dis, New York, NY 10021 USA
[3] Fac Necker, INSERM, U550, Lab Genet Humaine Malad Infect, Paris, France
[4] Univ Paris 05, Paris, France
[5] Hop Necker Enfants Malad, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France
关键词
PYOGENIC BACTERIAL-INFECTIONS; IRAK-4; DEFICIENCY; DISEASE; SONNEI; HUMANS;
D O I
10.1086/630206
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
We describe a child with very late-onset group B Streptococcus sepsis and meningitis, systemic shigellosis, and chronic osteomyelitis. Peripheral blood cells obtained from the patient and her brother did not respond to stimulation with either interleukin-1 beta or lipopolysaccharide. Sequencing of the interleukin-1 receptor-associated kinase-4 gene revealed 2 novel mutations.
引用
收藏
页码:1393 / 1396
页数:4
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