Results 21 to 30 of about 167,593 (141)

The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia

Frontiers in Immunology, 2020
BackgroundLive viral vaccines are generally contraindicated in patients with combined immunodeficiency including cartilage-hair hypoplasia (CHH); however, they may be tolerated in milder syndromes.
Svetlana Vakkilainen, Svetlana Vakkilainen, Svetlana Vakkilainen, Iivari Kleino, Jarno Honkanen, Harri Salo, Leena Kainulainen, Michaela Gräsbeck, Eliisa Kekäläinen, Eliisa Kekäläinen, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Paula Klemetti   +15 more
doaj   +1 more source

Evaluation of the 10 Warning Signs in Primary and Secondary Immunodeficient Patients

Frontiers in Immunology, 2022
ObjectivesTen warning signs of primary immunodeficiency (PID) were suggested by the Jeffrey Modell Foundation (JMF), to increase physician awareness of PID. These warning signs have not yet been evaluated for patients with secondary immunodeficiency (SID)
Fadime Ceyda Eldeniz, Yahya Gul, Alaaddin Yorulmaz, Sukru Nail Guner, Sevgi Keles, Ismail Reisli   +5 more
doaj   +1 more source

Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review

Frontiers in Immunology, 2020
Background: Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare combined immunodeficiency (CID) caused by recessive homozygous/compound heterozygous loss-of-function mutations in the ZAP70 gene.
Niusha Sharifinejad, Niusha Sharifinejad, Mahnaz Jamee, Mahnaz Jamee, Majid Zaki-Dizaji, Bernice Lo, Mohammadreza Shaghaghi, Mohammadreza Shaghaghi, Hamed Mohammadi, Hamed Mohammadi, Farhad Jadidi-Niaragh, Farhad Jadidi-Niaragh, Shiva Shaghaghi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi, Gholamreza Azizi   +16 more
doaj   +1 more source

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB

Frontiers in Pediatrics, 2020
Background: Inhibitor of kappa kinase 2 (IKK2) deficiency is a recently described combined immunodeficiency. It undermines the nuclear factor-kappa B (NF-κB) activation pathway.Methods: The clinical and immunological data of four patients diagnosed with ...
Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Abdullah A. Alangari   +9 more
doaj   +1 more source

Progressive Immunodeficiency with Gradual Depletion of B and CD4⁺ T Cells in Immunodeficiency, Centromeric Instability and Facial Anomalies Syndrome 2 (ICF2)

Diseases, 2019
Immunodeficiency, centromeric instability and facial anomalies syndrome 2 (ICF2) is a rare autosomal recessive primary immunodeficiency disorder. So far, 27 patients have been reported. Here, we present three siblings with ICF2 due to a homozygous ZBTB24
Georgios Sogkas, Natalia Dubrowinskaja, Anke K. Bergmann, Jana Lentes, Tim Ripperger, Mykola Fedchenko, Diana Ernst, Alexandra Jablonka, Robert Geffers, Ulrich Baumann, Reinhold E. Schmidt, Faranaz Atschekzei   +11 more
doaj   +1 more source

Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome

Frontiers in Immunology, 2021
X-linked severe combined immunodeficiency (X-SCID) is caused by mutations of IL2RG, the gene encoding the interleukin common gamma chain (IL-2Rγ or γc) of cytokine receptors for interleukin (IL)-2, IL-4, IL-7, IL-9, IL-15, and IL-21.
Brahim Belaid, Brahim Belaid, Lydia Lamara Mahammed, Lydia Lamara Mahammed, Aida Mohand Oussaid, Aida Mohand Oussaid, Melanie Migaud, Melanie Migaud, Yasmine Khadri, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Jean Laurent Casanova, Anne Puel, Anne Puel, Anne Puel, Nafissa Ben Halla, Nafissa Ben Halla, Reda Djidjik, Reda Djidjik   +19 more
doaj   +1 more source

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

Frontiers in Immunology, 2017
Immunodeficiency-associated vaccine-derived polioviruses (iVDPVs) have been isolated from primary immunodeficiency (PID) patients exposed to oral poliovirus vaccine (OPV).
Asghar Aghamohammadi, Hassan Abolhassani, Necil Kutukculer, Steve G. Wassilak, Mark A. Pallansch, Samantha Kluglein, Jessica Quinn, Roland W. Sutter, Xiaochuan Wang, Ozden Sanal, Tatiana Latysheva, Aydan Ikinciogullari, Ewa Bernatowska, Irina A. Tuzankina, Beatriz T. Costa-Carvalho, Jose Luis Franco, Raz Somech, Elif Karakoc-Aydiner, Surjit Singh, Liliana Bezrodnik, Francisco J. Espinosa-Rosales, Anna Shcherbina, Yu-Lung Lau, Yu-Lung Lau, Shigeaki Nonoyama, Fred Modell, Vicki Modell, The JMF Centers Network Investigators and Study Collaborators, Mohamed-Ridha Barbouche, Mark A. McKinlay   +29 more
doaj   +1 more source

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Frontiers in Immunology, 2021
Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity.
Wenjun Mou, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang   +11 more
doaj   +1 more source

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

First Case Report of FOXN1 Haploinsufficiency in China and Literature Review

Xiehe Yixue Zazhi, 2023
Objective  To analyze the clinical and immunological characteristics of the first case of FOXN1 haploinsufficiency in China and summarize the clinical characteristics of previous reported cases in other countries.  Methods  The whole-exome sequencing(WES)
LI Wendao, GU Hao, WANG Wei, WU Runhui, SONG Hongmei   +4 more
doaj   +1 more source