Results 41 to 50 of about 5,770,503 (368)

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. [PDF]

, 2015
Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary ...
Candotti, Fabio, Hershfield, Michael S, Kohn, Donald B, Komarow, Hirsh D, Metcalfe, Dean D, Sokolic, Robert, Young, Michael   +6 more
core   +2 more sources

Human NF-κB1 Haploinsufficiency and Epstein–Barr Virus-Induced Disease—Molecular Mechanisms and Consequences

Frontiers in Immunology, 2018
Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell ...
Birgit Hoeger, Birgit Hoeger, Nina Kathrin Serwas, Nina Kathrin Serwas, Kaan Boztug, Kaan Boztug, Kaan Boztug, Kaan Boztug   +7 more
doaj   +1 more source

Severe combined immunodeficiencies (SCID) [PDF]

Clinical and Experimental Immunology, 2000
SCID consists of a group of genetic disorders characterized by a block in T lymphocyte differentiation that is variably associated with abnormal development of other lymphocyte lineages, i.e. B or NK lymphocytes or more rarely of the myeloid lineage [1,2].
openaire   +2 more sources

Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

Frontiers in Immunology, 2022
Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia.
Maria Chiriaco, Giorgiana Madalina Ursu, Giorgiana Madalina Ursu, Donato Amodio, Nicola Cotugno, Nicola Cotugno, Stefano Volpi, Francesco Berardinelli, Francesco Berardinelli, Simone Pizzi, Cristina Cifaldi, Matteo Zoccolillo, Matteo Zoccolillo, Ignazia Prigione, Silvia Di Cesare, Silvia Di Cesare, Carmela Giancotta, Elisa Anastasio, Beatrice Rivalta, Beatrice Rivalta, Lucia Pacillo, Lucia Pacillo, Paola Zangari, Alessandro G. Fiocchi, Andrea Diociaiuti, Alessandro Bruselles, Francesca Pantaleoni, Andrea Ciolfi, Valentina D’Oria, Giuseppe Palumbo, Giuseppe Palumbo, Marco Gattorno, Maya El Hachem, Jean-Pierre de Villartay, Andrea Finocchi, Andrea Finocchi, Paolo Palma, Paolo Palma, Paolo Rossi, Paolo Rossi, Paolo Rossi, Marco Tartaglia, Alessandro Aiuti, Alessandro Aiuti, Alessandro Aiuti, Antonio Antoccia, Gigliola Di Matteo, Gigliola Di Matteo, Caterina Cancrini, Caterina Cancrini   +49 more
doaj   +1 more source

HIV-1 reverse transcriptase mutations that confer decreased in vitro susceptibility to anti-RT DNA aptamer RT1t49 confer cross resistance to other anti-RT aptamers but not to standard RT inhibitors [PDF]

, 2005
RNA and DNA aptamers specific for HIV-1 reverse transcriptase (RT) can inhibit reverse transcription in vitro. RNA aptamers have been shown to potently block HIV-1 replication in culture.
Fisher, Timothy S, Joshi, Pheroze, Prasad, Vinayaka R   +2 more
core   +3 more sources

Sequential emergence and clinical implications of viral mutants with K70E and K65R mutation in reverse transcriptase during prolonged tenofovir monotherapy in rhesus macaques with chronic RT-SHIV infection. [PDF]

, 2007
BackgroundWe reported previously on the emergence and clinical implications of simian immunodeficiency virus (SIVmac251) mutants with a K65R mutation in reverse transcriptase (RT), and the role of CD8+ cell-mediated immune responses in suppressing ...
Bischofberger, Norbert, Blackwood, Emily J, Heneine, Walid, Johnson, Jeffrey A, Lipscomb, Jonathan, Marthas, Marta L, Matthews, Timothy B, North, Thomas W, Pedersen, Niels C, Singh, Raman P, Van Rompay, Koen KA   +10 more
core   +3 more sources

Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)

Frontiers in Pediatrics, 2019
Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from infection and referral for definitive treatment with ...
M. van der Burg, N. Mahlaoui, H. Gaspar, S. Pai   +3 more
semanticscholar   +1 more source

The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia

Frontiers in Immunology, 2020
BackgroundLive viral vaccines are generally contraindicated in patients with combined immunodeficiency including cartilage-hair hypoplasia (CHH); however, they may be tolerated in milder syndromes.
Svetlana Vakkilainen, Svetlana Vakkilainen, Svetlana Vakkilainen, Iivari Kleino, Jarno Honkanen, Harri Salo, Leena Kainulainen, Michaela Gräsbeck, Eliisa Kekäläinen, Eliisa Kekäläinen, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Paula Klemetti   +15 more
doaj   +1 more source

Spectrum of malignancies among the population of adults living with HIV infection in China: A nationwide follow-up study, 2008-2011. [PDF]

, 2019
BackgroundAlthough increasingly studied in high-income countries, there is a paucity of data from the Chinese population on the patterns of cancer among people living with HIV (PLHIV).MethodsWe conducted a nationwide follow-up study using routinely ...
Detels, Roger, He, Na, Mao, Yurong, McGoogan, Jennifer M, Tang, Houlin, Wu, Zunyou, Zhang, Zuo-Feng, Zhu, Weiming   +7 more
core   +2 more sources

Severe combined immunodeficiency—an update

Annals of the New York Academy of Sciences, 2015
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life‐threatening when the diagnosis is made too late; they are the most severe forms of primary immunodeficiency.
CIRILLO, EMILIA, GIARDINO, GIULIANA, GALLO, VERA, D'ASSANTE, ROBERTA, GRASSO, FIORENTINO, Romano, Roberta, Di Lillo, Cristina, Galasso, Giovanni, PIGNATA, CLAUDIO   +8 more
openaire   +3 more sources