Results 41 to 50 of about 468,207 (168)

STAT3 isoform dynamics reveal robust splice ratio maintenance across cytokine-activated human immune cells

Frontiers in Immunology
Alternative splicing of STAT3 produces two principal isoforms, STAT3α and STAT3β, that differ in transactivation capacity and DNA-binding behavior.
Nils Ott, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Virginia Andreani   +6 more
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Role of Pore-Forming Toxins in Neonatal Sepsis

Clinical and Developmental Immunology, 2013
Protein toxins are important virulence factors contributing to neonatal sepsis. The major pathogens of neonatal sepsis, group B Streptococci, Escherichia coli, Listeria monocytogenes, and Staphylococcus aureus, secrete toxins of different molecular ...
Andreas F.-P. Sonnen, Philipp Henneke
doaj   +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
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Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

Frontiers in Immunology, 2019
Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous mutations in NFKB2 have recently been established as a molecular cause of common variable immunodeficiency (CVID) and DAVID-syndrome, a rare condition combining ...
Christian Klemann, Christian Klemann, Nadezhda Camacho-Ordonez, Nadezhda Camacho-Ordonez, Linlin Yang, Zoya Eskandarian, Jessica L. Rojas-Restrepo, Natalie Frede, Alla Bulashevska, Maximilian Heeg, Maximilian Heeg, Moudjahed Saleh Al-Ddafari, Moudjahed Saleh Al-Ddafari, Julian Premm, Maximilian Seidl, Maximilian Seidl, Sandra Ammann, Sandra Ammann, Roya Sherkat, Nita Radhakrishnan, Klaus Warnatz, Susanne Unger, Robin Kobbe, Anja Hüfner, T. Ronan Leahy, Winnie Ip, Winnie Ip, Siobhan O. Burns, Siobhan O. Burns, Manfred Fliegauf, Manfred Fliegauf, Bodo Grimbacher, Bodo Grimbacher   +32 more
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Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population

Blood Advances
: Primary hemophagocytic lymphohistiocytosis (HLH) is mainly caused by biallelic variants in genes disrupting cytotoxic natural killer (NK) cell and T-cell function (PRF1, UNC13D, STX11, STXBP2, RAB27A, and LYST).
Oleg Borisov, Jasmin Mann, Kevin Kim Walz, Florian Oyen, Helena Clara Lichtenfeld, Kai Lehmberg, Anna Köttgen, Stephan Ehl, Oliver Wegehaupt   +8 more
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PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect

Frontiers in Immunology
BackgroundHypomorphic mutations in the phosphoacetylglucosamine mutase 3 (PGM3) gene cause a glycosylation disorder that leads to immunodeficiency. It is often associated with recurrent infections and atopy.
Linlin Yang, Linlin Yang, Barbara Zerbato, Alex Pessina, Luca Brambilla, Virginia Andreani, Stefanie Frey-Jakobs, Manfred Fliegauf, Mohamed-Ridha Barbouche, Mohamed-Ridha Barbouche, Qiaoxia Zhang, Ferdinando Chiaradonna, Michele Proietti, Michele Proietti, Michele Proietti, Xin Du, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher   +19 more
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Guillain–Barré syndrome (GBS) after severe/critical COVID-19 or COVID-19 vaccination

European Journal of Medical Research
Background The global COVID-19 pandemic was initiated by the appearance of the novel coronavirus SARS-CoV-2 in 2019, presenting a spectrum of clinical manifestations from asymptomatic cases to severe pneumonia and multi-organ dysfunction, with some cases
Samira Bahrami, Behnaz Ansari, Leyla Norouzi-Barough, Bahram Bagherpour, Farzin Khorvash, Kiana Shirani, Saeed Abbasi, Roya Sherkat   +7 more
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IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease

Journal of Clinical Tuberculosis and Other Mycobacterial Diseases, 2019
Background: The interleukin-12 receptor β1 (IL-12Rβ1) deficiency is a primary immunodeficiency (PID), affecting the immunological pathway of interleukin 12/interferon- γ (IL12/IFN-γ) axis and interleukin 23 receptor (IL23R).
Razieh Khoshnevisan, Nioosha Nekooei-marnany, Christoph Klein, Daniel Kotlarz, Mahdieh Behnam, Vajihe Ostadi, Majid Yaran, Abbas Rezaei, Roya Sherkat   +8 more
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Expansion of CD57+ CD8 T cells in common variable immunodeficiency with hepatopathy and CMV infection

Frontiers in Immunology
BackgroundCommon variable immunodeficiency (CVID) is associated with an altered immune homeostasis affecting many T-cell subpopulations, including an increased proportion of CD57+ CD8 T lymphocytes.
Patrick Bez, Patrick Bez, Patrick Bez, Enrico Santangeli, Enrico Santangeli, Sigune Goldacker, Sigune Goldacker, Ulrich Salzer, Ulrich Salzer, Klaus Warnatz, Klaus Warnatz   +10 more
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ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality

Disease Models & Mechanisms, 2023
Elena Sindram, Andrés Caballero-Oteyza, Naoko Kogata, Shaina Chor Mei Huang, Zahra Alizadeh, Laura Gámez-Díaz, Mohammad Reza Fazlollhi, Xiao Peng, Bodo Grimbacher, Michael Way, Michele Proietti   +10 more
doaj   +1 more source