http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Honda, Fumiko,Kano, Hirotsugu,Kanegane, Hirokazu,Nonoyama, Shigeaki,Kim, Eun-Sung,Lee, Sang-Kyou,Takagi, Masatoshi,Mizutani, Shuki,Morio, Tomohiro Nature Publishing Group, a division of Macmillan P 2012 NATURE IMMUNOLOGY Vol.13 No.4
The function of the kinase Btk in neutrophil activation is largely unexplored. Here we found that Btk-deficient neutrophils had more production of reactive oxygen species (ROS) after engagement of Toll-like receptors (TLRs) or receptors for tumor-necrosis factor (TNF), which was associated with more apoptosis and was reversed by transduction of recombinant Btk. Btk-deficient neutrophils in the resting state showed hyperphosphorylation and activation of phosphatidylinositol-3-OH kinase (PI(3)K) and protein tyrosine kinases (PTKs) and were in a 'primed' state with plasma membrane??associated GTPase Rac2. In the absence of Btk, the adaptor Mal was associated with PI(3)K and PTKs at the plasma membrane, whereas in control resting neutrophils, Btk interacted with and confined Mal in the cytoplasm. Our data identify Btk as a critical gatekeeper of neutrophil responses.
조은경,Kumaki Satoru,Du Wei,Tsuchiya Shigeru,Kanegane Hirokazu,송창화,Noh Ha Young,Kim Young Ok,Kim So Yeon,Chung Hae Yul,김윤하,국훈 대한의학회 2004 Journal of Korean medical science Vol.19 No.1
X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the c chain gene, which encodes an essen-tial component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent infections who had reduced serum immunoglobulin levels and decreased numbers of CD3, CD16/56 cells was evalu-ated for c chain gene mutation and protein expression. The patient had a C-to-T point mutation at nucleotide position 690, one of the hot spots, resulting in a single amino acid substitution of cysteine for arginine (R226C), as determined by direct sequencing and PCR-RFLP. The patient’s mother was a heterozygous carrier. Per-cutaneous umbilical cord blood sampling was performed at the 6-month of gesta-tion in a subsequent pregnancy. As the immunophenotype of the fetus showed an identical pattern, the pregnancy was terminated and genetic analysis of the abortus confirmed recurrence. This is the first report of the molecular diagnosis of X-SCID in Korea. Genetic analysis of the c chain gene is useful for definite diagnosis and genetic counseling for X-SCID.
A Boy With Blau Syndrome Misdiagnosed as Refractory Kawasaki Disease
( Kyungwon Cho ),( Yoonsun Yoon ),( Joon-sik Choi ),( Sang Jin Kim ),( Hirokazu Kanegane ),( Yae-jean Kim ) 대한소아감염학회 2022 Pediatric Infection and Vaccine Vol.29 No.3
블라우 증후군(Blau syndrome)은 nucleotide-binding oligomerization domain protein 2 (NOD2) 유전자의 변이에 의해 발생하는 질환으로 육아종성 피부염 및 만성 포도막염, 관절염을 특징으로 한다. 증상이 비특이적이고 동시다발적으로 발생하지 않아 진단이 어려운 경우가 많다. 반복되는 피부 발진 및 발열에 대해 두 차례 가와사키병으로 오진되어 면역글로불린과 전신 스테로이드로 치료받은 바 있는 13개월 남자 환자에서 블라우 증후군을 진단한 증례를 보고하고자 한다. Blau syndrome is a systemic autoinflammatory disease presenting with non-caseating granulomatous dermatitis, chronic uveitis, and arthritis. It is caused by a gain-of-function variant of the nucleotide-binding oligomerization domain protein 2 gene, which leads to the overactivation of inflammatory cytokines and eventually causes autoinflammation. Since the symptoms of Blau syndrome are nonspecific and usually do not appear simultaneously, it is challenging to differentiate Blau syndrome from other inflammatory disorders. This is a case report of a 13-month-old boy who had suffered from recurrent skin rash and fever. The patient was previously misdiagnosed as refractory Kawasaki disease twice and was treated with intravenous immunoglobulin and systemic glucocorticoid, which only resulted in transient improvement of the symptoms. He was eventually diagnosed with Blau syndrome.