Results 81 to 90 of about 5,770,503 (368)

Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility

Journal of Allergy and Clinical Immunology: Global
Background: To date, fewer than 20 patients have been identified as having germline biallelic mutations in the coronin-1A gene (CORO1A) and its protein with clinical features of combined immunodeficiency characterized by T-cell lymphopenia ranging from ...
Anna Khoreva, MD, Kirill R. Butov, MD, Elena I. Nikolaeva, MD, Alexey Martyanov, PhD, Elena Kulakovskaya, MD, Dmitry Pershin, MD, Maxim Alexenko, MD, Maria Kurnikova, MD, Ruslan Abasov, MD, Elena Raykina, PhD, Dmitry Abramov, MD, Kristina Arnaudova, PhD, Yulia Rodina, PhD, Natalia Trubina, MD, Yulia Skvortsova, PhD, Dmitry Balashov, PhD, Anastasia Sveshnikova, PhD, Alexey Maschan, PhD, Galina Novichkova, PhD, Mikhail Panteleev, PhD, Anna Shcherbina, PhD   +20 more
doaj   +1 more source

Sarcoidosis associated with combined immunodeficiency [PDF]

Postgraduate Medical Journal, 1980
SummaryThe association of multiple non-caseating granulomata and a positive Kviem test is normally considered to be indicative of a diagnosis of sarcoidosis. However, although depressed cell-mediated immunity is commonly described, it is extremely rare to find a humoral immune paresis.A patient is reported who had multiple granulomata, depressed ...
M J, Crofts, M V, Joyner, J C, Sharp, J, Costello, D, Vergani   +4 more
openaire   +2 more sources

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Differences in immunoglobulin utilization when treating patients with primary immune disease in the United States

Journal of Allergy and Clinical Immunology: Global
Background: Primary immune diseases (PI) encompass over 550 disorders that are associated with substantial risk of mortality and morbidity. Emerging evidence demonstrates significant survival disparities in PI among racial minoritized populations ...
Roxanna Farzad, MS, Mei-Sing Ong, PhD, Jocelyn R. Farmer, MD, PhD, Nicholas L. Rider, DO   +3 more
doaj   +1 more source

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

Frontiers in Immunology, 2019
Adult-onset primary immunodeficiency is characterized by recurrent infections, hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody ...
Claudia Schröder, Claudia Schröder, Georgios Sogkas, Manfred Fliegauf, Manfred Fliegauf, Thilo Dörk, Di Liu, Leif G. Hanitsch, Sophie Steiner, Carmen Scheibenbogen, Roland Jacobs, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Reinhold E. Schmidt, Reinhold E. Schmidt, Reinhold E. Schmidt, Reinhold E. Schmidt, Faranaz Atschekzei, Faranaz Atschekzei   +20 more
doaj   +1 more source

Gastric cancer is the leading cause of death in Italian adult patients with common variable immunodeficiency [PDF]

, 2018
An increased prevalence of malignant lymphoma and of gastric cancer has been observed in large cohorts of patients with common variable immunodeficiency (CVID), the most frequently symptomatic primary immunodeficiency. Surveillance strategies for cancers
Agostini, Carlo, Cinetto, Francesco, Crescenzi, Ludovica, Milito, Cinzia, Pecoraro, Antonio, Pulvirenti, Federica, Quinti, Isabella, Rizzo, Francesca, Santangeli, Enrico, Spadaro, Giuseppe, Tabolli, Stefano, Valente, Michele   +11 more
core   +3 more sources

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

Journal of Experimental Medicine, 2017
In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)–related diseases.
Hassan Abolhassani, E. Edwards, A. Ikinciogulları, Huie Jing, S. Borte, M. Buggert, Likun Du, M. Matsuda-Lennikov, R. Romano, R. Caridha, Sangeeta Bade, Yu Zhang, J. Frederiksen, M. Fang, S. Bal, Şule Haskoloğlu, F. Doğu, N. Taçyıldız, Helen F. Matthews, J. McElwee, E. Gostick, D. Price, U. Palendira, A. Aghamohammadi, B. Boisson, N. Rezaei, A. Karlsson, M. Lenardo, J. Casanova, L. Hammarström, S. Tangye, H. Su, Q. Pan-Hammarström   +32 more
semanticscholar   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development

Frontiers in Immunology
IntroductionBiallelic mutations in MAP3K14, encoding NF-κB-inducing kinase (NIK), disrupt non-canonical NF-κB signaling and lead to a rare inborn error of immunity marked by impaired lymphoid organ development, defective lymphocyte maturation, and ...
Sevgi Köstel Bal, Sevgi Köstel Bal, Şule Haskoloğlu, Bernhard Ransmayr, Bernhard Ransmayr, Selin Sevinç, Candan İslamoğlu, Kübra Baskın, Nazlı Deveci, Berna Savaş, Suat Fitoz, Alphan Küpesiz, Tanıl Kendirli, Kaan Boztug, Kaan Boztug, Kaan Boztug, Figen Doğu, Kamile Aydan İkincioğulları   +17 more
doaj   +1 more source

Investigating the cell of origin and novel molecular targets in Merkel cell carcinoma: a historic misnomer

Molecular Oncology, EarlyView.
This study indicates that Merkel cell carcinoma (MCC) does not originate from Merkel cells, and identifies gene, protein & cellular expression of immune‐linked and neuroendocrine markers in primary and metastatic Merkel cell carcinoma (MCC) tumor samples, linked to Merkel cell polyomavirus (MCPyV) status, with enrichment of B‐cell and other immune cell
Richie Jeremian, Sriraam Sivachandran, Melissa Galati, Brandon Ramchatesingh, Hibo Rijal, Johnny Hanna, Elena Netchiporouk, May Chergui, Margaret Redpath, Samy Abou Setah, Ivan V. Litvinov   +10 more
wiley   +1 more source