• 제목/요약/키워드: Wiskott-Aldrich syndrome

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Wiskott-Aldrich syndrome 환아의 치과치료에 관한 임상적 연구 (DENTAL TREATMENT IN A CHILD WITH WISKOTT-ALDRICH SYNDROME : A CASE REPORT)

  • 양철희;안수현;노용관;김재곤;백병주
    • 대한소아치과학회지
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    • 제24권1호
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    • pp.293-299
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    • 1997
  • Wiskott-Aldrich syndrome is a rare, hereditary disease occurring in males and was first described in 1937. It is characterized by cutaneous eczema, thrombocytopenic purpura and an increased susceptibility to infection due to an immunologic defect. Patients with Wiskott-Aldrich syndrome have a poor antibody response to polysaccharide antigens, low levels of IgM and high levels of IgA and IgE in serum. Oral manifestations of Wiskott-Aldrich syndrome was observed a spontaneous gingival bleeding, palatal petechiae, ulcer and gingival hyperplasia. We report on dental treatment of a 5 years old boy with severe spontaneous gingival bleeding and ulcer suffered from Wiskott-Aldrich syndrome. Prophylactic antibiotics to prevent infection and all potential measures including platelet concentrate therapy to prevent postoperative bleeding should be undertaken. Good oral hygiene should be maintained for prevention of infection by oral normal flora.

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Wiskott-Aldrich 증후군 환아의 증례보고 (WISKOTT-ALDRICH SYNDROME WITH DENTAL PROBLEMS : CASE REPORT)

  • 이연주;현홍근;장철호;김영재;김정욱;장기택;김종철;한세현;이상훈
    • 대한소아치과학회지
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    • 제34권3호
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    • pp.468-472
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    • 2007
  • Wiskott-Aldrich 증후군은 WAS 단백질 유전자의 돌연변이에 의해서 야기되는 면역결핍질환으로 X 염색체 열성으로 유전되는 양상을 보인다. 혈소판감소증과 그로 인한 출혈경향, 면역결핍으로 인해 반복되는 감염, 아토피성 피부염등의 소견을 보인다. 첫 번째 증례는 서울대학교 치과병원 소아치과에 내원한 2세 11개월의 남아로 서울대학교 어린이병원에서 골수이식수술 전에 감염성 요소의 제거를 위해 의뢰되었다. 두 번째 증례는 2세 6개월의 남아로 구각부 및 치은의 연조직 질환과 치아 및 치은의 착색을 주소로 본과에 의뢰되었다. 이들 두 환자에서 보이는 Wiskott-Aldrich 증후군의 특징적인 치과적 소견과 치과치료시의 주의사항에 대해 보고하는 바이다.

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WASP 유전자의 Exon 2에서 새로운 돌연변이를 가진 Wiskott-Aldrich 증후군의 1례 (A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene)

  • 이혁;박정인;김선영;문경희;이호근;황평한
    • Clinical and Experimental Pediatrics
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    • 제48권5호
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    • pp.551-556
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    • 2005
  • 저자들은 혈소판 평균용적 및 혈소판 수의 감소, 심한 아토피 피부염 및 반복 감염을 임상적 증상으로 추정 진단된 WAS 환아로부터 WAS의 확진에 필수적인 분자학적 분석을 실시하여 WASP 단백질의 발현이 감소되어 있으며, WASP 유전자의 Exon 2, 번역 개시점으로부터 208번째의 염기서열 구아닌(g)이 아데닌(a)으로 변이되어 70번째 아미노산인 글라이신(Gly)이 알지닌(Arg)으로 변화된 missense 변이(G70A)를 발견하여 확진된 WAS 환자를 경험하였기에 문헌 고찰과 함께 이를 보고하는 바이다.

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation

  • Lee, Eu Kyoung;Eem, Yeun-Joo;Chung, Nack-Gyun;Kim, Myung Shin;Jeong, Dae Chul
    • Clinical and Experimental Pediatrics
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    • 제56권6호
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    • pp.265-268
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    • 2013
  • Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.

WAVEs: A Novel and Promising Weapon in the Cancer Therapy Tool Box

  • Sakthivel, K.M.;Prabhu, V. Vinod;Guruvayoorappan, C.
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권5호
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    • pp.1719-1722
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    • 2012
  • The Wiskott-Aldrich Syndrome Protein family Verprolin - homologous proteins (WAVEs), encoded by a metastasis promoter gene, play considerable roles in adhesion of immune cells, cell proliferation, migration and destruction of foreign agents by reactive oxygen species. These diverse functions have lead to the hypothesis that WAVE proteins have multi-functional roles in regulating cancer invasiveness, metastasis, development of tumor vasculature and angiogenesis. Differentials in expression of WAVE proteins are associated with a number of neoplasms include colorectal cancer, hepatocellular cancer, lung squamous cell carcinoma, human breast adenocarcinoma and prostate cancer. In this review we attempt to unify our knowledge regarding WAVE proteins, focusing on their potentials as diagnostic markers and molecular targets for cancer therapy.

일차성 면역결핍질환의 최신 지견 (Recent advance in primary immune deficiency disorders)

  • 강형진;신희영;안효섭
    • Clinical and Experimental Pediatrics
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    • 제52권6호
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    • pp.649-654
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    • 2009
  • The immune system is comprised of cells and molecules whose collective and coordinated response to the introduction of foreign substance is referred to as the immune response. Defense against microbes is mediated by the early reaction (innate immunity) and the late response (adaptive immunity). Innate immunity consists of the epithelial barrier, phagocytes, complement and natural killer cells. Adaptive immunity, a more complex defense reaction, consists of activation of later-developed lymphocytes that, when stimulated by exposure to infectious agents, increase in magnitude and defensive capabilities with each successive exposure. In this review we discuss recent advances in important primary immune deficiency disorders of innate immunity (chronic granulomatous disease, leukocyte adhesion deficiency) and adaptive immunity (severe combined immune deficiency, Wiskott- Aldrich syndrome).

Kinesin Light Chain (KLC)의 Tetratricopeptide Repeat (TPR) 도메인을 통한 Scaffold 단백질 WAVE1과 Kinesin 1의 결합 (The Scaffolding Protein WAVE1 Associates with Kinesin 1 through the Tetratricopeptide Repeat (TPR) Domain of the Kinesin Light Chain (KLC))

  • 장원희;정영주;엄상화;석대현
    • 생명과학회지
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    • 제26권8호
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    • pp.963-969
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    • 2016
  • Kinesin superfamily proteins (KIFs)은 세포 내 소기관이나 단백질복합체를 미세소관을 따라 운반하는 모터단백질이다. Kinesin 1은 경쇄단위체(light chain subunit)를 통하여 결합함으로써 세포 내 소기관, 신경소포, 신경전달물질수용체, 신호전달단백질, mRNA 등 다양한 운반체를 운반하는 KIFs의 한 종류이다. Kinesin light chains (KLCs)은 모터기능이 없는 단위체로서 kinesin heavy chains (KHCs) 이량체와 결합하여 kinesin 1을 구성한다. KLCs은 여러 단백질과 결합하지만 아직 결합단백질이 충분히 밝혀지지 않았다. 본 연구에서 KLC1의 tetratricopeptide repeat (TPR) 영역과 결합하는 단백질을 분리하기 위하여 효모 two-hybrid 탐색을 수행한 결과 Wiskott-Aldrich syndrome의 원인단백질이며 액틴 세포골격 조절단백질인 WASP/WAVE family의 하나인 WAVE1을 분리하였다. WAVE1은 KLC1의 TPR 영역을 포함한 부위와 결합하지만 KHCs인 KIF5A, KIF5B, KIF5C와는 결합하지 않았다. 또한 KLC1은 WAVE1의 C-말단에 존재하는 verprolin/cofilin/acidic (VCA) 도메인과 결합하였으며, 다른 WAVE isoform인 WAVE2와 WAVE3과도 결합하였다. HEK-293T 세포에 WAVE1과 KLC1을 동시에 발현시켰을 때 두 단백질이 세포 내에서 같은 부위에 존재하며, WAVE1을 면역침강한 결과 KLC1뿐만 아니라 KIF5B가 같이 침강함을 확인하였다. 이러한 결과들은 kinesin 1이 WAVE 단백질복합체 혹은 WAVE로 덮여있는 운반체를 운반함을 시사한다.

A Maternal Transcription Factor, Junction Mediating and Regulatory Protein is Required for Preimplantation Development in the Mouse

  • Lin, Zi-Li;Li, Ying-Hua;Jin, Yong- Xun;Kim, Nam-Hyung
    • 한국발생생물학회지:발생과생식
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    • 제23권3호
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    • pp.285-295
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    • 2019
  • Junction-mediating and regulatory protein (JMY) is a regulator of both transcription and actin filament assembly. The actin-regulatory activity of JMY is based on a cluster of three actin-binding Wiskott-Aldrich syndrome protein homology 2 (WH2) domains that nucleate actin filaments directly and promote nucleation of the Arp2/3 complex. In addition to these activities, we examined the activity of JMY generation in early embryo of mice carrying mutations in the JMY gene by CRISPR/Cas9 mediated genome engineering. We demonstrated that JMY protein shuttled expression between the cytoplasm and the nucleus. Knockout of exon 2, CA (central domain and Arp2/3-binding acidic domain) and NLS-2 (nuclear localization signal domain) on the JMY gene by CRISPR/Cas9 system was effective and markedly impeded embryonic development. Additionally, it impaired transcription and zygotic genome activation (ZGA)-related genes. These results suggest that JMY acts as a transcription factor, which is essential for the early embryonic development in mice.

Pneumocystis jirovecii pneumonia in pediatric patients: an analysis of 15 confirmed consecutive cases during 14 years

  • Kim, Kyung-Ran;Kim, Jong Min;Kang, Ji-Man;Kim, Yae-Jean
    • Clinical and Experimental Pediatrics
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    • 제59권6호
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    • pp.252-255
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    • 2016
  • Purpose: Pneumocystis jirovecii pneumonia occurs in various immunocompromised patients. Despite the prophylaxis strategies in clinical practice, certain patients develop P. jirovecii pneumonia. This study was performed to investigate pediatric cases with P. jirovecii pneumonia in a single center. Methods: We identified pediatric patients younger than 19 years with microbiologically confirmed P. jirovecii pneumonia from January 2000 to February 2014. A retrospective chart review was performed. Results: Fifteen episodes of P. jirovecii pneumonia in 14 patients were identified with median age of 8.3 years (range, 0.4-18.6 years). Among these patients, 11 patients had hematology-oncology diseases, 2 had primary immunodeficiency disorders (one with severe combined immunodeficiency and the other with Wiskott Aldrich syndrome), 1 had systemic lupus erythematosus and 1 received kidney transplant. Four patients were transplant recipients; 1 allogeneic and 2 autologous hematopoietic cell transplant and 1 with kidney transplant. The median absolute lymphocyte count at the diagnosis of P. jirovecii pneumonia was $5,156cells/mm^3$ (range, $20-5,111cells/mm^3$). In 13 episodes (13 of 15, 86.7%), patients were not receiving prophylaxis at the onset of P. jirovecii pneumonia. For treatment, trimethoprim/sulfamethoxazole was given as a main therapeutic agent in all 15 episodes. Steroid was given in 9 episodes (60%). Median treatment duration was 15 days (range, 4-33 days). Overall mortality at 60 days was 35.7% (5 of 14). Conclusion: Majority of our patients developed P. jirovecii pneumonia while not on prophylaxis. Continuous efforts and more data are needed to identify high risk patients who may get benefit from P. jirovecii pneumonia prophylaxis.