Search Results - "Buckley, RH"

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution by Buckley, Rebecca H

“…Mutations in nine different genes have been found to cause the human severe combined immunodeficiency syndrome. The products of three of the genes--IL-2RG,…”
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The multiple causes of human SCID by Buckley, Rebecca H

“…SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the…”
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Primary cellular immunodeficiencies by Buckley, Rebecca H.

“…Genetic defects in T-cell function lead to susceptibility to infections or to other clinical problems that are more grave than those seen in disorders…”
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Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival by Myers, Laurie A., Patel, Dhavalkumar D., Puck, Jennifer M., Buckley, Rebecca H.

“…All genetic types of severe combined immunodeficiency (SCID) can be cured by stem cell transplantation from related donors. The survival rate approaches 80%,…”
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Gene therapy for SCID—a complication after remarkable progress by Buckley, Rebecca H

“…Since SCID children cannot reject a graft because they do not have T cells, it is not necessary to give pretransplant chemoablation for bone marrow transplant…”
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Chronic granulomatous disease. Report on a national registry of 368 patients by Winkelstein, J A, Marino, M C, Johnston, Jr, R B, Boyle, J, Curnutte, J, Gallin, J I, Malech, H L, Holland, S M, Ochs, H, Quie, P, Buckley, R H, Foster, C B, Chanock, S J, Dickler, H

“…A registry of United States residents with chronic granulomatous disease (CGD) was established in 1993 in order to estimate the minimum incidence of this…”
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Defective IL7R expression in T - B + NK + severe combined immunodeficiency by Leonard, Warren J, Puel, Anne, Ziegler, Steven F, Buckley, Rebecca H

“…Severe combined immunodeficiency (SCID) is caused by multiple genetic defects. The most common form of SCID, X-linked SCID (XSCID), results from mutations in…”
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A historical review of bone marrow transplantation for immunodeficiencies by Buckley, Rebecca H

“…Without immune reconstitution, these infants die from infection during infancy (Fig 5). Since the first bone marrow transplantation in a patient with SCID in…”
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Primary Immunodeficiency Diseases Due to Defects in Lymphocytes by Buckley, Rebecca H

“…The recognition of impaired immunity in children five decades ago 1 , 2 spurred an exponential increase in knowledge of the functions of the immune system…”
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Primary immunodeficiency or not? Making the correct diagnosis by Buckley, Rebecca H.

“…Making a correct diagnosis of a primary immunodeficiency disease is crucial for the selection of proper therapy. Although many cases go undiagnosed, there are…”
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Hyper IgM Syndrome: a Report from the USIDNET Registry by Leven, Emily A., Maffucci, Patrick, Ochs, Hans D., Scholl, Paul R., Buckley, Rebecca H., Fuleihan, Ramsay L., Geha, Raif S., Cunningham, Coleen K., Bonilla, Francisco A., Conley, Mary Ellen, Ferdman, Ronald M., Hernandez-Trujillo, Vivian, Puck, Jennifer M., Sullivan, Kathleen, Secord, Elizabeth A., Ramesh, Manish, Cunningham-Rundles, Charlotte

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Hematopoietic Stem-Cell Transplantation for the Treatment of Severe Combined Immunodeficiency by Buckley, Rebecca H, Schiff, Sherrie E, Schiff, Richard I, Markert, M. Louise, Williams, Larry W, Roberts, Joseph L, Myers, Laurie A, Ward, Frances E

“…Severe combined immunodeficiency is a rare, fatal syndrome that can be due to a variety of genetic abnormalities causing profound deficiencies of lymphocytes…”
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Abnormalities in the regulation of human IgE synthesis by Buckley, R H, Becker, W G

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Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation by Roberts, Joseph L., Lengi, Andrea, Brown, Stephanie M., Chen, Min, Zhou, Yong-Jie, O’Shea, John J., Buckley, Rebecca H.

“…We found 10 individuals from 7 unrelated families among 170 severe combined immunodeficiency (SCID) patients who exhibited 9 different Janus kinase 3 (JAK3)…”
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Primary immunodeficiency diseases: dissectors of the immune system by Buckley, Rebecca H.

“…The past 50 years have seen enormous progress in this field. An unknown concept until 1952, there are now more than 100 different primary immunodeficiency…”
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Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4 by Grimbacher, Bodo, Schäffer, Alejandro A., Holland, Steven M., Davis, Joie, Gallin, John I., Malech, Harry L., Atkinson, T. Prescott, Belohradsky, Bernd H., Buckley, Rebecca H., Cossu, Fausto, Español, Teresa, Garty, Ben-Zion, Matamoros, Nuria, Myers, Laurie A., Nelson, Robert P., Ochs, Hans D., Renner, Eleonore D., Wellinghausen, Nele, Puck, Jennifer M.

“…The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE…”
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Complete DiGeorge syndrome: Development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases by Louise Markert, M, Alexieff, Marilyn J, Li, Jie, Sarzotti, Marcella, Ozaki, Daniel A, Devlin, Blythe H, Sempowski, Gregory D, Rhein, Maria E, Szabolcs, Paul, Hale, Laura P, Buckley, Rebecca H, Coyne, Katharine E, Rice, Henry E, Mahaffey, Samuel M, Skinner, Michael A

“…Five patients with DiGeorge syndrome presented with infections, skin rashes, and lymphadenopathy after the newborn period. T-cell counts and function varied…”
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A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states by Rosenzweig, Sergio D, Dorman, Susan E, Uzel, Gulbu, Shaw, Stephen, Scurlock, Amy, Brown, Margaret R, Buckley, Rebecca H, Holland, Steven M

“…We identified two siblings homozygous for a single base pair deletion in the IFN-gammaR2 transmembrane domain (791delG) who presented with multifocal…”
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Jak3 and the pathogenesis of severe combined immunodeficiency by O’Shea, John J, Husa, Matthew, Li, Denise, Hofmann, Sigrun R, Watford, Wendy, Roberts, Joseph L, Buckley, Rebecca H, Changelian, Paul, Candotti, Fabio

“…The discovery that Jak3 mutations are a significant cause of severe combined immunodeficiency (SCID), a rare inherited defect characterized by lymphopenia, has…”
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Variable phenotypic expression of mutations in genes of the immune system by Buckley, Rebecca H

“…Discovery of mutated genes that cause various types of primary immunodeficiencies has significantly advanced our understanding of the pathogenesis of these…”
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