Results 11 to 20 of about 5,295,791 (325)

Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel

Frontiers in Immunology, 2021
In the last few months the world has witnessed a global pandemic due to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection causing coronavirus disease 2019 (COVID-19).
Nufar Marcus, Nufar Marcus, Nufar Marcus, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, Shirly Frizinsky, David Hagin, David Hagin, David Hagin, Adi Ovadia, Adi Ovadia, Adi Ovadia, Suhair Hanna, Suhair Hanna, Michael Farkash, Michael Farkash, Michael Farkash, Ramit Maoz-Segal, Ramit Maoz-Segal, Ramit Maoz-Segal, Nancy Agmon-Levin, Nancy Agmon-Levin, Nancy Agmon-Levin, Arnon Broides, Arnon Broides, Amit Nahum, Amit Nahum, Elli Rosenberg, Elli Rosenberg, Amir Asher Kuperman, Amir Asher Kuperman, Yael Dinur-Schejter, Yael Dinur-Schejter, Yackov Berkun, Yackov Berkun, Ori Toker, Ori Toker, Ori Toker, Shmuel Goldberg, Shmuel Goldberg, Ronit Confino-Cohen, Ronit Confino-Cohen, Oded Scheuerman, Basel Badarneh, Basel Badarneh, Na‘ama Epstein-Rigbi, Amos Etzioni, Amos Etzioni, Ilan Dalal, Ilan Dalal, Ilan Dalal, Ilan Dalal, Raz Somech, Raz Somech   +55 more
doaj   +2 more sources

Selective IgM Deficiency—An Underestimated Primary Immunodeficiency

Frontiers in Immunology, 2017
Although selective IgM deficiency (SIGMD) was described almost five decades ago, it was largely ignored as a primary immunodeficiency. SIGMD is defined as serum IgM levels below two SD of mean with normal serum IgG and IgA.
Sudhir Gupta, Ankmalika Gupta
doaj   +2 more sources

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

Clinical and Experimental Immunology, 2022
IKAROS/IKZF1 plays a pivotal role in lymphocyte differentiation and development. Germline mutations in IKZF1, which have been shown to associated with primary immunodeficiency, can be classified through four different mechanisms of action depending on ...
H. Kuehn, Brigette Boast, S. Rosenzweig
semanticscholar   +1 more source

COVID-19 in Patients with Primary Immunodeficiency

Journal of Clinical Immunology, 2021
The results and the complications following SARS-CoV2 infection in individuals with primary immunodeficiency(PID) remain unclear. The objective of this study is to report the course, follow-up, outcome of COVID 19 in 26 patients with PIDs from a ...
Saliha Esenboğa, M. Ocak, A. Akarsu, Hacer Neslihan Bildik, D. Çağdaş, A. T. Iskit, I. Tezcan   +6 more
semanticscholar   +1 more source

Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications

Journal of Clinical Medicine, 2021
During the last years, studies investigating the intriguing association between immunodeficiency and autoimmunity led to the discovery of new monogenic disorders, the improvement in the knowledge of the pathogenesis of autoimmunity, and the introduction ...
Giorgio Costagliola, S. Cappelli, R. Consolini   +2 more
semanticscholar   +1 more source

Reversion Mosaicism in Primary Immunodeficiency Diseases

Frontiers in Immunology, 2021
Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations.
Hanae Miyazawa, T. Wada
semanticscholar   +1 more source

Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

Frontiers in Immunology, 2022
BackgroundSTAT1 gain-of-function (GOF) is a primary immune dysregulatory disorder marked by wide infectious predisposition (most notably chronic mucocutaneous Candidiasis), autoimmunity, vascular disease and malignant predisposition.
Ori Scott, Nigel Sharfe, Nigel Sharfe, Harjit Dadi, Harjit Dadi, Linda Vong, Linda Vong, Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett Pachul, Sandra Nelles, Amit Nahum, Amit Nahum, Chaim M. Roifman, Chaim M. Roifman   +14 more
doaj   +1 more source

PI3Kδ and primary immunodeficiencies [PDF]

Nature Reviews Immunology, 2016
Primary immunodeficiencies are inherited disorders of the immune system, often caused by the mutation of genes required for lymphocyte development and activation. Recently, several studies have identified gain-of-function mutations in the phosphoinositide 3-kinase (PI3K) genes PIK3CD (which encodes p110δ) and PIK3R1 (which encodes p85α) that cause a ...
Lucas, Carrie L, Chandra, Anita, Nejentsev, Sergey, Condliffe, Alison M, Okkenhaug, Klaus   +4 more
openaire   +3 more sources

Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency

Journal of Clinical Immunology, 2020
Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real impact of this pandemic on pediatric patients with different types of primary immunodeficiency (
S. Delavari, Hassan Abolhassani, F. Abolnezhadian, F. Babaha, S. Iranparast, H. Ahanchian, N. Moazzen, M. Nabavi, S. Arshi, M. Fallahpour, M. Bemanian, S. Shokri, Tooba Momen, M. Sadeghi-shabestari, Rasol Molatefi, A. Shirkani, Ahmad Vosughimotlagh, M. Safarirad, Meisam Sharifzadeh, S. Pashangzadeh, F. Salami, P. Shirmast, A. Rezaei, Tannaz Moeini shad, M. Mohraz, N. Rezaei, L. Hammarström, R. Yazdani, Asghar Aghamohamamdi   +28 more
semanticscholar   +1 more source

Gene Therapy for Primary Immunodeficiency [PDF]

, 2021
Over the past 3 decades, there has been significant progress in refining gene therapy technologies and procedures. Transduction of hematopoietic stem cells ex vivo using lentiviral vectors can now create a highly effective therapeutic product, capable of
Booth, C, Houghton, BC
core   +1 more source