Results 51 to 60 of about 614,575 (264)

Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations

Iranian Journal of Allergy, Asthma and Immunology, 2022
Early diagnosis of primary immunodeficiencies is crucial for timely treatment and preventing unwanted complications. Next-generation sequencing (NGS) and detailed clinical and immunological evaluation can help early detect such disorders.
Shiva Saghafi, Fariborz Zandieh, Mohammad Reza Fazlollahi, Cristina Glocker, Natalie Frede, Mary Buchta, Linlin Yang, Amir Hossein Mahmoudi, Massoud Houshmand, Zahra Pourpak, Bodo Grimbacher, Mostafa Moin   +11 more
doaj   +1 more source

Neonatal immune challenge poses a sex-specific risk for epigenetic microglial reprogramming and behavioral impairment

Nature Communications, 2023
While the precise processes underlying a sex bias in the development of central nervous system (CNS) disorders are unknown, there is growing evidence that an early life immune activation can contribute to the disease pathogenesis.
Marius Schwabenland, Omar Mossad, Annika Sievert, Adam G. Peres, Elena Ringel, Sebastian Baasch, Julia Kolter, Giulia Cascone, Nikolaos Dokalis, Andreas Vlachos, Zsolt Ruzsics, Philipp Henneke, Marco Prinz, Thomas Blank   +13 more
doaj   +1 more source

Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies?

BMC Immunology, 2017
Background The ability of anti-cytokine antibodies to play a disease-causing role in the pathogenesis of immunodeficiencies is widely accepted. The aim of this study was to investigate whether autoantibodies against BAFF (important B cell survival signal)
Marian-Christopher Pott, Natalie Frede, Jennifer Wanders, Lennart Hammarström, Erik-Oliver Glocker, Cristina Glocker, Fariba Tahami, Bodo Grimbacher   +7 more
doaj   +1 more source

The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases

Frontiers in Pediatrics
Autoinflammatory diseases (AIDs) are a group of immunodysregulatory disorders resulting in the increased release or signaling of pro-inflammatory cytokines.
B. Meertens, B. Meertens, L. Hoste, L. Hoste, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, S. J. Tavernier, F. Haerynck, F. Haerynck   +9 more
doaj   +1 more source

Clinical and Laboratory Parameters of Autoinflammatory Disorders in Single Tertiary Care Center

Iranian Journal of Allergy, Asthma and Immunology, 2022
Autoinflammatory diseases (AIDs) are disorders with an inborn error of innate immunity, characterized by recurrent episodes of fever and inflammatory attacks.
Roya Sherkat, Alireza Rafiei, Vida Homayouni, Elmira Kalantari, Roya Sepahvandi, Sahar Memarmontazarin, Ali Mosayebian   +6 more
doaj  

Cell Versus Cytokine – Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity

Frontiers in Immunology, 2020
Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous hyperinflammatory syndrome with different pathways of pathogenesis resulting in similar clinical presentations.
Oliver Wegehaupt, Oliver Wegehaupt, Katharina Wustrau, Kai Lehmberg, Stephan Ehl, Stephan Ehl   +5 more
doaj   +1 more source

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

Journal of Experimental Medicine, 2015
Boisson et al. report a human homozygous mutation of HOIP, the gene encoding the catalytic component of the linear ubiquitination chain assembly complex, LUBAC.
B. Boisson, E. Laplantine, K. Dobbs, A. Cobat, N. Tarantino, Melissa M Hazen, H. Lidov, Gregory Hopkins, Likun Du, Aziz Belkadi, M. Chrabieh, Y. Itan, C. Picard, J. Fournet, H. Eibel, E. Tsitsikov, S. Pai, L. Abel, W. Al-Herz, J. Casanova, A. Israel, L. Notarangelo   +21 more
semanticscholar   +1 more source

“Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology

Frontiers in Immunology, 2018
Primary immunodeficiencies (PIDs) represent a group of mostly monogenic disorders caused by loss- or gain-of-function mutations in over 340 known genes that lead to abnormalities in the development and/or the function of the immune system.
Sophie Jung, Sophie Jung, Sophie Jung, Laura Gámez-Díaz, Michele Proietti, Bodo Grimbacher   +5 more
doaj   +1 more source

Immunodeficiency in Bloom’s Syndrome [PDF]

Journal of Clinical Immunology, 2017
Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells.
Michiel H. D. Schoenaker, Stefanie S. Henriet, Jip Zonderland, Marcel van Deuren, Qiang Pan-Hammarström, Sandra J. Posthumus-van Sluijs, Ingrid Pico-Knijnenburg, Corry M. R. Weemaes, Hanna IJspeert   +8 more
openaire   +5 more sources

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

Front. Immun., 2011
We report the updated classification of primary immunodeficiency diseases, compiled by the ad hoc Expert Committee of the International Union of Immunological Societies.
W. Al-Herz, A. Bousfiha, J. Casanova, T. Chatila, M. Conley, C. Cunningham-Rundles, Amos Etzioni, J. Franco, H. Gaspar, S. Holland, C. Klein, S. Nonoyama, H. Ochs, E. Oksenhendler, C. Picard, J. Puck, K. Sullivan, M. Tang   +17 more
semanticscholar   +1 more source