Výsledky vyhledávání - "Mary J. Hackett"

Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients

Autor: Paolo Ruggero Errante, Angela Falcai, Janaíra Fernandes Ferreira, Mary J. Hackett, Troy R. Torgerson, Hans D. Ochs, Paulo Vitor Soeiro Pereira, Gisele Kuntze, Lena F. Schimke, Nelson Augusto Rosario-Filho, Otavio Cabral-Marques, Joao Bosco Oliveira, Antonio Condino-Neto, Beatriz Tavares Costa Carvalho, Cristina Worm Weber

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature. We have identified an unusual high incidence of fungal infectio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87286faadeaf6b4c6a717867c2e97950
https://doi.org/10.1007/s10875-011-9623-6

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Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis

Autor: Mary J. Hackett, Beatriz Tavares Costa Carvalho, Sonia Jancar, Christina Arslanian, Nelson Augusto Rosario-Filho, Hans D. Ochs, Patrícia C. Bergami-Santos, Gisele Kuntze, Antonio Condino-Neto, Janaíra Fernandes Ferreira, Mariana Morato, Rodrigo Nalio Ramos, LenaFriederike Schimke, Troy R. Torgerson, Paulo Vitor Soeiro Pereira, José Alexandre Marzagão Barbuto, Otavio Cabral Marques, Cristina Worm Weber

Publikováno v: Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) Jeffrey Modell Foundation Background: Patients with X-linked hyper-IgM syndrome (X-HIGM) due to CD40 ligand (CD40

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05c064117992026a19292ef410de6745
http://repositorio.unifesp.br/handle/11600/34634

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Impaired Humoral Immune Response to a T-Cell-Dependent Neoantigen in Patients with ComèL-Netherton Syndrome

Autor: Bernd H. Belohradsky, Mary J. Hackett, Qili Zhu, Uwe Ermer, Robin L. Hornung, Richard Stiehm, Hans D. Ochs, Stacey Rylaarsdam, Troy R. Torgerson, Yinzhu Jin, Felicitas Nagel, Ellen D. Renner, Stephanie Anover, Gary Kleiner, Hsiang-Min Lu

Publikováno v: Clinical Immunology. 119:S200-S201

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aaccac27511e6748678f7bd5611b94c9
https://doi.org/10.1016/j.clim.2006.04.547

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Sa.76. Ipex Syndrome with Normal FOXP3 Coding Region Sequences But Diminished FOXP3 Transcription and Translation: An Implied FOXP3 Regulatory Gene Defect

Autor: Stephanie Anover, Hans D. Ochs, L. Key, Talal A. Chatila, Mary J. Hackett, Frederick Schaffer, Troy R. Torgerson, Joe Cochran

Publikováno v: Clinical Immunology. 119:S131-S132

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a13895a9c6740be98f45c6e5f04769a2
https://doi.org/10.1016/j.clim.2006.04.308

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Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

Publikováno v: The Journal of allergy and clinical immunology, vol 131, iss 6

Background Mutations in signal transducer and activator of transcription (STAT) 1 cause a broad spectrum of disease, ranging from severe viral and bacterial infections (amorphic alleles) to mild disseminated mycobacterial disease (hypomorphic alleles

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7fa5e33606bb898f2c645ac742b518d
https://doi.org/10.1016/j.jaci.2012.11.054

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Dendritic Cells From X-Linked Hyper-IgM Patients Present Impaired Responses to Candida Albicans and Paracoccidioides Brasiliensis That Can Be Reversed by Exogenous Soluble CD40L

Autor: Sonia Jancar, Gisele Kuntze, Patrícia C. Bergami-Santos, Mary J. Hackett, Nelson Augusto Rosario-Filho, Beatriz Tavares Costa Carvalho, Cristina Worm Weber, Rodrigo Nalio Ramos, Christina Arslanian, José Alexandre Marzagão Barbuto, Paulo Vitor Soeiro Pereira, Otavio Cabral Marques, Hans D. Ochs, Troy R. Torgerson, Antonio Condino-Neto, Lena F. Schimke, Janaíra Fernandes Ferreira, Mariana Morato Marques

Publikováno v: Journal of Allergy and Clinical Immunology. 131:AB127

S U N D A Y 457 Dendritic Cells From X-Linked Hyper-IgM Patients Present Impaired Responses to Candida Albicans and Paracoccidioides Brasiliensis That Can Be Reversed by Exogenous Soluble CD40L Otavio C. Marques, Christina Arslanian, Rodrigo N. Ramos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e001e774ef44ada3eb3e736d3fed4c74
https://doi.org/10.1016/j.jaci.2012.12.1121

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S2012 Novel Mutations and Clinical Features in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Autor: Hans D. Ochs, Troy R. Torgerson, Mary J. Hackett, Crystal Knight, Stephanie Anover-Sombke, Eleonora Gambineri

Publikováno v: Gastroenterology. 138:S-301

IPEX Syndrome is a rare disorder presenting in the first few months of life and characterized by a triad of severe autoimmune enteropathy (AIE), endocrinopathy (usually Type I diabetes or thyroiditis), and dermatitis. In addition, patients frequently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::81b9bf40d58459c580a400ab16a384cf
https://doi.org/10.1016/s0016-5085(10)61383-2

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OR.5. The Naturally Occurring Splice Variant of FOXP3 Lacking Exon 2 is not Sufficient to Maintain Immune Homeostasis and Prevent IPEX in vivo in Humans

Autor: Eleonora Gambineri, Hans D. Ochs, Troy R. Torgerson, Mary J. Hackett, Stephanie Anover-Sombke

Publikováno v: Clinical Immunology. 131:S7

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c72ba3530349b14474a1549a45dde127
https://doi.org/10.1016/j.clim.2009.03.012

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