Priya K Patel, Michell Lozano Chinga, Melis Yilmaz, Sonia Joychan, Boglarka Ujhazi, Maryssa Ellison, Sumai Gordon, Daime Nieves, Krisztian Csomos, Don Eslin, Zeinab A Afify, Jessica Meznarich, John Bohnsack, Kelly Walkovich, Markus G Seidel, Svetlana Sharapova, Oksana Boyarchuk, Elena Latysheva, Irina Tuzankina, Ahmad B Shaker, Irmel Ayala, Panida Sriaroon, Emma Westermann-Clark, Jolan E Walter
No abstract text is available yet for this article.
February 29, 2024: Journal of Clinical Immunology
Reyhan Gumusburun, Sevgi Altay, Hasancan Cengiz, Gulendam Hakverdioglu Yont, Ozlem Kuman Tuncel, Omur Ardeniz
PURPOSE: Primary immunodeficiency disorder (PID) is a heterogeneous group of diseases characterized by immune dysregulation and increased susceptibility to infections, with various cognitive, emotional, behavioral, and social effects on patients. This study aimed to evaluate loneliness, social adaptation, anxiety, and depression and to identify associated factors in adults with immunodeficiency. METHODS: A cross-sectional study in Turkey (Feb-Aug 2022) obtained sociodemographic data from patient records...
February 27, 2024: Journal of Clinical Immunology
Yue Song, Weiyang Li, Depei Wu, Xuefeng He, Jianhong Fu
No abstract text is available yet for this article.
February 24, 2024: Journal of Clinical Immunology
Sarah-Jolan Bremer, Annika Boxnick, Laura Glau, Daniel Biermann, Simon A Joosse, Friederike Thiele, Elena Billeb, Jonathan May, Manuela Kolster, Romy Hackbusch, Mats Ingmar Fortmann, Rainer Kozlik-Feldmann, Michael Hübler, Eva Tolosa, Jörg Siegmar Sachweh, Anna Gieras
Congenital heart disease (CHD) is the most common birth defect, and up to 50% of infants with CHD require cardiovascular surgery early in life. Current clinical practice often involves thymus resection during cardiac surgery, detrimentally affecting T-cell immunity. However, epidemiological data indicate that CHD patients face an elevated risk for infections and immune-mediated diseases, independent of thymectomy. Hence, we examined whether the cardiac defect impacts thymus function in individuals with CHD...
February 23, 2024: Journal of Clinical Immunology
Saba Jafarpour, Jolee Suddock, Debra Hawes, Jonathan D Santoro
Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus Kinase (JAK) inhibitors have shown effectiveness in treatment of AGS through blocking the downstream effects of interferon activation. We illustrate post-mortem histopathologic findings in a patient with AGS who received baricitinib treatment for a duration of over 4 years, initiating at a remarkably young age of 2 months...
February 21, 2024: Journal of Clinical Immunology
Ping Wang, Xiaowen Qian, Wenjin Jiang, Hongsheng Wang, Yuhuan Wang, Ying Zhou, Ye Zhang, Ying Huang, Xiaowen Zhai
PURPOSE: Interleukin-10 receptor (IL-10R) deficiency can result in life-threatening very early-onset inflammatory bowel disease (VEO-IBD). Umbilical cord blood transplantation (UCBT) is a curative therapy for patients with IL-10R deficiency. This study aimed to investigate the efficacy of UCBT in treating IL-10R deficiency and develop a predictive model based on pre-transplant factors. METHODS: Eighty patients with IL-10R deficiency who underwent UCBT between July 2015 and April 2023 were retrospectively analyzed...
February 19, 2024: Journal of Clinical Immunology
Erika Della Mina, Katherine J L Jackson, Alexander J I Crawford, Megan L Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O'Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J D'Orsogna, Cindy S Ma, Stuart G Tangye
B cells and their secreted antibodies are fundamental for host-defense against pathogens. The generation of high-affinity class switched antibodies results from both somatic hypermutation (SHM) of the immunoglobulin (Ig) variable region genes of the B-cell receptor and class switch recombination (CSR) which alters the Ig heavy chain constant region. Both of these processes are initiated by the enzyme activation-induced cytidine deaminase (AID), encoded by AICDA. Deleterious variants in AICDA are causal of hyper-IgM syndrome type 2 (HIGM2), a B-cell intrinsic primary immunodeficiency characterised by recurrent infections and low serum IgG and IgA levels...
February 16, 2024: Journal of Clinical Immunology
Qianqian Zhao, Jijun Ma, Jiawen Wu, Abdurahman Matruzi, Chongwei Li
No abstract text is available yet for this article.
February 16, 2024: Journal of Clinical Immunology
Alejandro Segura-Tudela, Marta López-Nevado, Celia Nieto-López, Sandra García-Jiménez, María J Díaz-Madroñero, Ángeles Delgado, Oscar Cabrera-Marante, Daniel Pleguezuelo, Pablo Morales, Estela Paz-Artal, Jorge Gil-Niño, Francisco M Marco, Cristina Serrano, Luis I González-Granado, Juan F Quesada-Espinosa, Luis M Allende
Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious diseases, as well as autoimmune, autoinflammatory, allergic, and malignant phenotypes that usually appear in childhood, which is when the diagnosis is typically made. However, some IEI patients are identified in adulthood due to symptomatic delay of the disease or other reasons that prevent the request for a molecular study...
February 16, 2024: Journal of Clinical Immunology
Sultan Majid, Nikki Kimura, Fung Lam, Vincent Bonagura
No abstract text is available yet for this article.
February 16, 2024: Journal of Clinical Immunology
Jérémie Rosain, Ayca Kiykim, Alexandre Michev, Yasemin Kendir-Demirkol, Darawan Rinchai, Jessica N Peel, Hailun Li, Suheyla Ocak, Pinar Gokmirza Ozdemir, Tom Le Voyer, Quentin Philippot, Taushif Khan, Anna-Lena Neehus, Mélanie Migaud, Camille Soudée, Stéphanie Boisson-Dupuis, Nico Marr, Alessandro Borghesi, Jean-Laurent Casanova, Jacinta Bustamante
PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Twenty-two genes with products involved in the production of, or response to, IFN-γ and variants of which underlie MSMD have been identified. However, pathogenic variants of IFNG encoding a defective IFN-γ have been described in only two siblings, who both underwent hematopoietic stem cell transplantation (HCST). METHODS: We characterized a new patient with MSMD by genetic, immunological, and clinical means...
February 16, 2024: Journal of Clinical Immunology
Adrian Baldrich, Dominic Althaus, Thomas Menter, Julia R Hirsiger, Julius Köppen, Robin Hupfer, Darius Juskevicius, Martina Konantz, Angela Bosch, Beatrice Drexler, Sabine Gerull, Adhideb Ghosh, Benedikt J Meyer, Annaise Jauch, Katia Pini, Fabio Poletti, Caroline M Berkemeier, Ingmar Heijnen, Isabelle Panne, Claudia Cavelti-Weder, Jan Hendrik Niess, Karen Dixon, Thomas Daikeler, Karin Hartmann, Christoph Hess, Jörg Halter, Jakob Passweg, Alexander A Navarini, Hiroyuki Yamamoto, Christoph T Berger, Mike Recher, Petr Hruz
Inflammatory bowel disease (IBD) occurring following allogeneic stem cell transplantation (aSCT) is a very rare condition. The underlying pathogenesis needs to be better defined. There is currently no systematic effort to exclude loss- or gain-of-function mutations in immune-related genes in stem cell donors. This is despite the fact that more than 100 inborn errors of immunity may cause or contribute to IBD. We have molecularly characterized a patient who developed fulminant inflammatory bowel disease following aSCT with stable 100% donor-derived hematopoiesis...
February 16, 2024: Journal of Clinical Immunology
Clémence David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Moran-Alvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian I Rice, Marie-Louise Frémond, Alice Lepelley, Joseph A Marsh, Yanick J Crow
TLR7 recognizes pathogen-derived single-stranded RNA (ssRNA), a function integral to the innate immune response to viral infection. Notably, TLR7 can also recognize self-derived ssRNA, with gain-of-function mutations in human TLR7 recently identified to cause both early-onset systemic lupus erythematosus (SLE) and neuromyelitis optica. Here, we describe two novel mutations in TLR7, F507S and L528I. While the L528I substitution arose de novo, the F507S mutation was present in three individuals from the same family, including a severely affected male, notably given that the TLR7 gene is situated on the X chromosome and that all other cases so far described have been female...
February 7, 2024: Journal of Clinical Immunology
Annalisa Villa, Cinzia Milito, Carla Maria Deiana, Renato Finco Gambier, Alessandra Punziano, Helena Buso, Patrick Bez, Gianluca Lagnese, Giulia Garzi, Giulia Costanzo, Gloria Giannuzzi, Chiara Pagnozzi, Virgil A S H Dalm, Giuseppe Spadaro, Marcello Rattazzi, Francesco Cinetto, Davide Firinu
The long-term effects of SARS-CoV-2 infection represent a relevant global health problem. Long COVID (LC) is defined as a complex of signs and symptoms developed during or after SARS-CoV-2 infection and lasting > 12 weeks. In common variable immunodeficiency (CVID) patients, we previously reported higher risk of hospitalization and death during SARS-CoV-2 infection, as well as prolonged swab positivity and frequent reinfections. The aim of the present study was to assess the risk of LC in an Italian cohort of CVID patients...
February 6, 2024: Journal of Clinical Immunology
Ridhima Aggarwal, Alison R Spratt, Andrew L Snow, Pandiarajan Vignesh
No abstract text is available yet for this article.
February 5, 2024: Journal of Clinical Immunology
Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar, Motoi Yamashita, Tomohiro Morio
No abstract text is available yet for this article.
February 1, 2024: Journal of Clinical Immunology
Michelle Mølgaard Thomsen, Morten Kelder Skouboe, Michelle Møhlenberg, Jian Zhao, Kerstin de Keukeleere, Johanna Laura Heinz, Marvin Werner, Anne Kruse Hollensen, Jonas Lønskov, Ian Nielsen, Madalina Elena Carter-Timofte, Baocun Zhang, Jacob Giehm Mikkelsen, Niels Fisker, Søren R Paludan, Kristian Assing, Trine H Mogensen
Varicella zoster virus (VZV) is a neurotropic alphaherpesvirus exclusively infecting humans, causing two distinct pathologies: varicella (chickenpox) upon primary infection and herpes zoster (shingles) following reactivation. In susceptible individuals, VZV can give rise to more severe clinical manifestations, including disseminated infection, pneumonitis, encephalitis, and vasculopathy with stroke. Here, we describe a 3-year-old boy in whom varicella followed a complicated course with thrombocytopenia, hemorrhagic and necrotic lesions, pneumonitis, and intermittent encephalopathy...
January 26, 2024: Journal of Clinical Immunology
Ümran Aba, İbrahim Cemal Maslak, Canberk İpşir, Damla Pehlivan, Nicholas I Warnock, Damon J Tumes, Gökhan Cildir, Baran Erman
A homozygous missense mutation in the transferrin receptor 1 (TfR1), also known as CD71, leads to a rare inborn error of immunity (IEI) characterized by the impaired lymphocyte activation and proliferation due to defective iron uptake of cells. However, only one causative mutation (c.58T > C, p.Y20H) in the TFRC gene coding for TfR1 has been reported so far. We herein identified a new disease-causing homozygous germline mutation in the TFRC gene (c.64C > T, p.R22W) (referred to as TfR1R22W from now on) in a Turkish patient with combined immunodeficiency (CID)...
January 25, 2024: Journal of Clinical Immunology
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Aina Aguiló-Cucurull, Janire Perurena-Prieto, Neus Castells, Blanca Urban, Romina Dieli-Crimi, Pere Soler-Palacín, Roger Colobran
The term common variable immunodeficiency (CVID) encompasses a clinically diverse group of disorders, mainly characterized by hypogammaglobulinemia, insufficient specific antibody production, and recurrent infections. The genetics of CVID is complex, and monogenic defects account for only a portion of cases, typically <30%. Other proposed mechanisms include digenic, oligogenic, or polygenic inheritance and epigenetic dysregulation. In this study, we aimed to assess the role of skewed X-chromosome inactivation (XCI) in CVID...
January 24, 2024: Journal of Clinical Immunology
Peter J Mustillo, Kathleen E Sullivan, Ivan K Chinn, Luigi D Notarangelo, Elie Haddad, E Graham Davies, Maria Teresa de la Morena, Nicholas Hartog, Joyce E Yu, Vivian P Hernandez-Trujillo, Winnie Ip, Jose Franco, Eleonora Gambineri, Scott E Hickey, Elizabeth Varga, M Louise Markert
No abstract text is available yet for this article.
January 22, 2024: Journal of Clinical Immunology
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.