Výsledky vyhledávání - "A O, Shigeoka"

Progressive Neurodegeneration in Patients with Primary Immunodeficiency Disease on IVIG Treatment

Autor: Anna Huttenlocher, Christian H.L. Rieger, Lars Marthinsen, Luigi D. Notarangelo, Kathleen E. Sullivan, Teresa Espanol, E. Richard Stiehm, A. David B. Webster, Roger H. Kobayashi, Charlotte Cunningham-Rundles, Raman Sankar, Peter Rudge, Srdjan Pasic, Ann O. Shigeoka, Ulrike H.M. Ziegner, Hans D. Ochs, Paul Krogstad, Anders Fasth

Publikováno v: Clinical Immunology. 102:19-24

We have identified 14 patients with diverse primary immunodeficiencies who have developed progressive neurodegeneration of unknown etiology. All patients had received immunoglobulin replacement therapy for a mean duration of 6.5 years (range of 0.5-1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03f4c6e194e56f9eab1a70b02c4abff
https://doi.org/10.1006/clim.2001.5140

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A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Autor: Qili Zhu, Kathy O'Briant, Ann O. Shigeoka, Phillip F. Chance, Mary E. Brunkow, Hans D. Ochs, Craig L. Bennett, Ramsay Fuleihan, Fred Ramsdell

Publikováno v: Immunogenetics. 53:435-439

The mouse scurfy gene, Foxp3, and its human orthologue, FOXP3, which maps to Xp11.23-Xq13.3, were recently identified by positional cloning. Point mutations and microdeletions of the FOXP3 gene were found in the affected members of eight of nine fami

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f8ac43c868f2f6bb588cd755242cc1
https://doi.org/10.1007/s002510100358

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Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: A genetic syndrome?

Autor: John C. Carey, Ann O. Shigeoka, John C. Christenson, John F. Bohnsack, Harry R. Hill, David Viskochil, Elisabeth E. Adderson

Publikováno v: American Journal of Medical Genetics. 95:17-20

We report on two children who may represent a novel syndrome consisting of a deficiency of immunoglobulin-bearing B lymphocytes and serum antibody, deficient intrauterine and/or postnatal growth, intracranial calcifications, and acquired pancytopenia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::efcad00bd91fce91661571c37f56a1a2
https://doi.org/10.1002/1096-8628(20001106)95:1<17::aid-ajmg5>3.0.co

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Di George Anomaly and Velocardiofacial Syndrome

Autor: Cathy A. Stevens, John C. Carey, Ann O. Shigeoka

Publikováno v: Pediatrics. 85:526-530

The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic facies, and learning disabilities. The Di George anomaly involves developmental defects of the third and fourth pharyngea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c642d8abcd6eb29132b1d46423277f6f
https://doi.org/10.1542/peds.85.4.526

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A novel syndrome of variant leukocyte adhesion deficiency involving defects in adhesion mediated by beta1 and beta2 integrins

Autor: Diane E. Lorant, Roberta H. Adams, Guy A. Zimmerman, Stephen M. Prescott, Wenhua Li, Ann O. Shigeoka, Estelle S. Harris, Thomas M. McIntyre

Publikováno v: Blood. 97(3)

Leukocyte adhesion deficiency type I (LAD-1) is a disorder associated with severe and recurrent bacterial infections, impaired extravascular targeting and accumulation of myeloid leukocytes, altered wound healing, and significant morbidity that is ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1cad65fe185990fea5d4102052e72e
https://pubmed.ncbi.nlm.nih.gov/11157496

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Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: a genetic syndrome?

Autor: E E, Adderson, D H, Viskochil, J C, Carey, A O, Shigeoka, J C, Christenson, J F, Bohnsack, H R, Hill

Publikováno v: American journal of medical genetics. 95(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::544cf522bf574bcc8d0e560aae1ba939
https://pubmed.ncbi.nlm.nih.gov/11074489

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X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

Autor: Pamela R. Fain, Hidenori Kiyosawa, Craig L. Bennett, Ann O. Shigeoka, Ritsuko Yoshioka, Phillip F. Chance, David F. Barker

SummaryWe describe genetic analysis of a large pedigree with an X-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea (XPID), which frequently results in death during infancy or childhood. Linkage analysis mapped the XPID gene to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e423c40e538b92aa86bbd5b54fea440a
https://europepmc.org/articles/PMC1288099/

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Dysgonic fermenter-3: a bacterium associated with diarrhea in immunocompromised hosts

Autor: A M, Heiner, J A, DiSario, K, Carroll, S, Cohen, T G, Evans, A O, Shigeoka

Publikováno v: The American journal of gastroenterology. 87(11)

We describe two patients with chronic diarrhea associated with dysgonic fermenter-3 (DF-3) infection. One patient had common variable hypogammaglobulinemia and the other hand chronic idiopathic neutropenia and human immunodeficiency virus infection.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c5a9227be73a2c7abc4958ad86a529be
https://pubmed.ncbi.nlm.nih.gov/1442688

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