Results 1 to 10 of about 595,778 (223)

Severe combined immunodeficiency

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2021
5 month old female baby presented with cough followed by respiratory distress and not gaining weight. There was no history of fever, diarrhea or recurrent infections. Her elder brother died due to respiratory illness at the age of 8 months.
S. Sinha, Sayan Nandi, M. Das, S. Basu
semanticscholar   +2 more sources

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

Frontiers in Immunology, 2020
Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in dried blood spot (DBS) DNA. Second tier next generation sequencing (NGS) with an
J. Strand, Kiran A. Gul, H. C. Erichsen, E. Lundman, Mona C. Berge, A. K. Trømborg, L. K. Sørgjerd, M. Ytre-Arne, Silje Hogner, Ruth Halsne, H. J. Gaup, L. Osnes, G. B. Kro, H. Sorte, L. Mørkrid, A. Rowe, T. Tangeraas, Jens Jørgensen, C. Alme, Trude E. H. Bjørndalen, A. Rønnestad, A. Lang, T. Rootwelt, J. Buechner, Torstein Øverland, T. Abrahamsen, R. Pettersen, A. Stray-Pedersen   +27 more
semanticscholar   +1 more source

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

Pediatrics, 2019
NBS has improved the detection, diagnosis, treatment, and basic understanding of SCID; infants with TCL are also detected, facilitating management. OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in ...
George S. Amatuni, George S. Amatuni, R. Currier, J. Church, Tracey Bishop, Elena Grimbacher, A. Nguyen, Rajni Agarwal-Hashmi, C. Aznar, M. Butte, M. Cowan, M. Dorsey, C. Dvorak, N. Kapoor, D. Kohn, M. Markert, T. Moore, S. Naides, S. Sciortino, L. Feuchtbaum, R. A. Koupaei, J. Puck   +21 more
semanticscholar   +1 more source

Global properties of an age-structured virus model with saturated antibody immune response, multi-target cells and general incidence rate [PDF]

Bolet\'in de la Sociedad Matem\'atica Mexicana, Vol. 27 (2021) 26, 2017
Some viruses, such as human immunodeficiency virus, can infect several types of cell populations. The age of infection can also affect the dynamics of infected cells and production of viral particles. In this work, we study a virus model with infection-age and different types of target cells which takes into account the saturation effect in antibody ...
arxiv   +1 more source

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

Immunological Reviews, 2018
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure.
J. Puck
semanticscholar   +1 more source

A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency.

New England Journal of Medicine, 2003
To the Editor: We recently reported (April 18 issue)1 the sustained correction of X-linked severe combined immunodeficiency disease by ex vivo, retrovirally mediated transfer of the γc gene into CD34+ cells in four of five patients with the disease ...
S. Hacein-Bey-Abina, C. von Kalle, M. Schmidt, F. Le Deist, N. Wulffraat, Elisabeth McIntyre, I. Radford, J. Villeval, C. Fraser, M. Cavazzana‐Calvo, A. Fischer   +10 more
semanticscholar   +1 more source

The emergence and evolution of the research fronts in HIV/AIDS research [PDF]

PLoS ONE, 2017 12(5): e0178293, 2016
In this paper, we have identified and analyzed the emergence, structure and dynamics of the paradigmatic research fronts that established the fundamentals of the biomedical knowledge on HIV/AIDS. A search of papers with the identifiers "HIV/AIDS", "Human Immunodeficiency Virus", "HIV-1" and "Acquired Immunodeficiency Syndrome" in the Web of Science ...
arxiv   +1 more source

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

A Quantitative Analysis of Dynamic Mechanisms Regulating HIV Latency and Activation [PDF]

Prog. Biochem. Biophys. 2023,50(2):385-396, 2022
Objective: The reservoir of human immunodeficiency virus (HIV) latently infected cells is the major obstacle for eradication of acquired immunodeficiency syndrome (AIDS). Due to the noisy environment and multiple influencing factors in the organism, current dynamical models cannot reach a common understanding of the molecular mechanism of HIV latency ...
arxiv   +1 more source

Tree-based Subgroup Discovery In Electronic Health Records: Heterogeneity of Treatment Effects for DTG-containing Therapies [PDF]

arXiv, 2022
The rich longitudinal individual level data available from electronic health records (EHRs) can be used to examine treatment effect heterogeneity. However, estimating treatment effects using EHR data poses several challenges, including time-varying confounding, repeated and temporally non-aligned measurements of covariates, treatment assignments and ...
arxiv