Results 1 to 10 of about 4,951,275 (263)

Editorial: The role of transcription factors in inborn errors of immunity

Frontiers in Immunology, 2023
Delfien J. Bogaert, Delfien J. Bogaert, Hye Sun Kuehn, Victoria Bordon, Filomeen Haerynck, Filomeen Haerynck   +5 more
doaj   +1 more source

Mild Hypogammaglobulinemia Can Be a Serious Condition

Frontiers in Immunology, 2018
Background: Most patients with primary antibody deficiency (PAD) suffer from less well-described and understood forms of hypogammaglobulinemia (unclassified primary antibody deficiency, unPAD).
Lisanne M. A. Janssen, Paul Bassett, Thomas Macken, Jolanda van Esch, Hans Pruijt, Arnoud Knoops, Markus Sköld, Antony Parker, Jolanda de Vries, Esther de Vries, Esther de Vries   +10 more
doaj   +1 more source

The New Formulations of Immunoglobulin Replacement Therapies and Future Aspects

Turkish Journal of Immunology
Immunoglobulin replacement therapy (IgRT) stands as the established method of treatment for numerous inborn errors of immunity (IEI). Over the past six decades, there have been notable advancements in the dosing, processing, and administration routes of ...
Elif Karakoç-aydıner
doaj   +1 more source

Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Nature Communications, 2019
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
S. J. Tavernier, V. Athanasopoulos, P. Verloo, G. Behrens, J. Staal, D. J. Bogaert, L. Naesens, M. De Bruyne, S. Van Gassen, E. Parthoens, J. Ellyard, J. Cappello, L. X. Morris, H. Van Gorp, G. Van Isterdael, Y. Saeys, M. Lamkanfi, P. Schelstraete, J. Dehoorne, V. Bordon, R. Van Coster, B. N. Lambrecht, B. Menten, R. Beyaert, C. G. Vinuesa, V. Heissmeyer, M. Dullaers, F. Haerynck   +27 more
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A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation

Nature Communications, 2019
Roquin-1 is a posttranscriptional regulator that controls the expression of many immune-related genes such as ICOS and TNFA. Here, the authors report a homozygous R688* loss of function mutation in Roquin-1 in a patient with syndromic uncontrolled ...
S. J. Tavernier, V. Athanasopoulos, P. Verloo, G. Behrens, J. Staal, D. J. Bogaert, L. Naesens, M. De Bruyne, S. Van Gassen, E. Parthoens, J. Ellyard, J. Cappello, L. X. Morris, H. Van Gorp, G. Van Isterdael, Y. Saeys, M. Lamkanfi, P. Schelstraete, J. Dehoorne, V. Bordon, R. Van Coster, B. N. Lambrecht, B. Menten, R. Beyaert, C. G. Vinuesa, V. Heissmeyer, M. Dullaers, F. Haerynck   +27 more
doaj   +1 more source

Case Report: Integrated genomic and immunological assays identify non-coding CFB variants in pneumococcal meningoencephalitis

Frontiers in Immunology
Inborn defects of the alternative pathway (AP) of the complement system have revealed its essential role in host defense against invasive infections caused by encapsulated bacteria. Biallelic pathogenic variants in the CFB gene cause complement factor B (
J. Barbieur, J. Barbieur, J. Barbieur, E. D’haenens, E. D’haenens, T. Jarayseh, T. Jarayseh, L. Hoste, J. Smet, J. Smet, S. Lambrecht, E. Schiettecatte, P. Schelstraete, M. De Bruyne, M. De Bruyne, F. Haerynck, F. Haerynck, F. Haerynck, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier   +21 more
doaj   +1 more source

Primary immunodeficiency-related genes and varicella-zoster virus reactivation syndrome: a Mendelian randomization study

Frontiers in Immunology
BackgroundCurrently, evidence regarding the causal relationship between primary immunodeficiency-related genes and varicella-zoster virus reactivation syndrome is limited and inconsistent.
Hao Wang, Guanglei Chen, Qian Gong, Jing Wu, Peng Chen   +4 more
doaj   +1 more source

Jeffrey's Insights: Next-generation sequencing for primary immunodeficiency diagnosis, 2019-2025. [PDF]

J Hum Immun
Quinn J, Fernández-Tabanera E, Perea-Romero I, Leon-Otegui M, Moreno-Coca M, Palao B, Izquierdo L, Cirigliano V, Ting YL, Albright L, Tenembaum V, Gladue R, Orange JS, Modell F.   +13 more
europepmc   +1 more source

Safety and tolerability of a new intravenous immunoglobulin 10% in patients with primary immunodeficiency. [PDF]

Immunotherapy
Crea R, Perez E, Roifman CM.
europepmc   +1 more source

A Novel Variant of CORO1A Gene Contributing to the Development of Primary Immunodeficiency in Children. [PDF]

Case Reports Immunol
Aljohani A, Alayed Y, Alrasheed B, Alghamdi H, Alzahrani M, Alshaigi K.   +5 more
europepmc   +1 more source