journal
https://read.qxmd.com/read/38488991/inflammatory-proteomic-analysis-of-22q11-2-deletion-syndrome
#1
JOURNAL ARTICLE
Valentina Frusone, Kelly Maurer, Beverly S Emanuel, Donna McDonald-McGinn, Kathleen E Sullivan
No abstract text is available yet for this article.
March 15, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38485795/germline-havcr2-tim-3-checkpoint-inhibitor-receptor-deficiency-in-recurrent-autoinflammatory-myocarditis
#2
JOURNAL ARTICLE
Nora Pernaa, Anni Vakkuri, Miika Arvonen, Outi Kuismin, Wenny Santaniemi, Virpi Glumoff, Elisa Lappi-Blanco, Ulla Lantto, Marjo Okkonen, Kari Kaikkonen, Juhani Junttila, Risto Kerkelä, Pirjo Åström, Timo Hautala
Myocarditis can be caused by viral infection, drug reaction or general inflammatory condition. To provide understanding on inflammatory myocarditis, we describe clinical, genetic, and immunological properties of a young male patient who suffered from recurrent myocarditis episodes since the age of four years. Electrocardiography, troponin I/T, echocardiography, myocardial magnetic resonance imaging and histological findings were consistent with recurrent myocarditis episodes. Homozygous c.245 A > G p...
March 15, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38462559/prevalence-of-neutralizing-autoantibodies-against-type-i-interferon-in-a-multicenter-cohort-of-severe-or-critical-covid-19-cases-in-shanghai
#3
JOURNAL ARTICLE
Dongling Shi, Jie Chen, Meng Zhao, Yuanjia Tang, Chen Zhao, Yinpeng Jin, Di Tian, Yixin Liao, Xuebi Wang, Wei Wang, Xiaohong Fan, Zhigang Yi, Xiaohua Chen, Yun Ling
OBJECTIVE: We sought to explore the prevalence of type I interferon-neutralizing antibodies in a Chinese cohort and its clinical implications during the Omicron variant wave of SARS-CoV-2. METHODS: Type I interferon (IFN) autoantibodies possessing neutralizing capabilities were identified using luciferase assays. The capacity of the autoantibodies for in vitro interference with antiviral activity of IFN was assessed by using a SARS-CoV-2 replicon system. An analysis of the demographic and clinical profiles of patients exhibiting neutralizing antibodies was also conducted...
March 10, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38457046/parental-engagement-in-identifying-information-needs-after-newborn-screening-for-families-of-infants-with-suspected-athymia
#4
JOURNAL ARTICLE
Evey Howley, Maarja Soomann, Alexandra Y Kreins
Congenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplantation (TT). Athymic patients are increasingly identified through newborn screening (NBS) for severe combined immunodeficiency (SCID). Lack of relatable information resources contributes to challenging patient and family journeys during the diagnostic period following abnormal NBS results. Patient and Public Involvement and Engagement (PPIE) activities, including parental involvement in paediatrics, are valuable initiatives to improve clinical communication and parental information strategies...
March 8, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38457012/pharmacokinetics-of-baricitinib-in-cerebrospinal-fluid-and-plasma-in-a-patient-with-spencd
#5
LETTER
Micol Romano, Ashley Geerlink, Erkan Demirkaya, Roberta A Berard, Facundo Garcia-Bournissen
No abstract text is available yet for this article.
March 8, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38451381/the-complexity-of-being-a20-from-biological-functions-to-genetic-associations
#6
REVIEW
Urekha Karri, Magdalena Harasimowicz, Manuel Carpio Tumba, Daniella M Schwartz
A20, encoded by TNFAIP3, is a critical negative regulator of immune activation. A20 is a ubiquitin editing enzyme with multiple domains, each of which mediates or stabilizes a key ubiquitin modification. A20 targets diverse proteins that are involved in pleiotropic immunologic pathways. The complexity of A20-mediated immunomodulation is illustrated by the varied effects of A20 deletion in different cell types and disease models. Clinically, the importance of A20 is highlighted by its extensive associations with human disease...
March 7, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38451335/involvement-of-il-17%C3%A2-a-il-17-receptor-a-with-neutrophil-recruitment-and-the-severity-of-coronary-arteritis-in-kawasaki-disease
#7
JOURNAL ARTICLE
I-Chun Lin, Jau-Ling Suen, Shau-Ku Huang, Ming-Hui Chou, Hsuan-Chang Kuo, Mao-Hung Lo, Kuang-Che Kuo, Lin Wang
PURPOSE: To assess the role of the interleukin (IL)-17 A/IL-17 receptor A (IL-17RA) in Kawasaki disease (KD)-related coronary arteritis (CA). METHODS: In human study, the plasma levels of IL-17 A and coronary arteries were concurrently examined in acute KD patients. In vitro responses of human coronary endothelial cells to plasma stimulation were investigated with and without IL-17RA neutralization. A murine model of Lactobacillus casei cell-wall extract (LCWE)-induced CA using wild-type Balb/c and Il17ra-deficient mice were also inspected...
March 7, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38443565/to-the-editor-clinical-characteristics-of-pediatric-patients-with-lrba-deficiency-in-mexico
#8
LETTER
Eduardo Liquidano-Perez, Selma Scheffler-Mendoza, Juan Carlos Bustamante-Ogando, Gabriela Lopez-Herrera
No abstract text is available yet for this article.
March 6, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38427060/a-novel-homozygous-six-base-pair-deletion-found-in-the-nfatc2-gene-in-a-patient-with-ebv-associated-lymphoproliferation
#9
JOURNAL ARTICLE
Baran Erman, Sevgi Köstel Bal, Çiğdem Aydoğmuş, Gizem Zengin Ersoy, Kaan Boztug
No abstract text is available yet for this article.
March 1, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38424321/novel-presentation-of-major-histocompatibility-complex-class-ii-deficiency-with-hemophagocytic-lymphohistiocytosis
#10
JOURNAL ARTICLE
Fayhan J Alroqi, Musaab A Alhezam, Abdullah I Almojali, Tlili Barhoumi, Nouf Althubaiti, Yousef Alharbi, Mohammed A Al Balwi, Abdulrahman Alrasheed
PURPOSE: Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by defects in the MHC class II regulatory genes leading to abnormal T cells development and function. Therefore, patients mainly present with increased susceptibility to infections, diarrhea, and failure to thrive. In this report, we present one MHC class II deficient patient with a novel presentation with Hemophagocytic Lymphohistiocytosis (HLH). METHODS: Immunophenotyping of lymphocyte subpopulations and HLA-DR expression was assess by flow cytometry...
March 1, 2024: Journal of Clinical Immunology
https://read.qxmd.com/read/38421526/correction-to-clinical-and-treatment-history-of-patients-with-partial-digeorge-syndrome-and-autoimmune-cytopenia-at-multiple-centers
#11
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
https://read.qxmd.com/read/38411715/psychosocial-evaluation-of-adults-with-primary-immunodeficiency
#12
JOURNAL ARTICLE
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
https://read.qxmd.com/read/38400989/successful-treatment-of-refractory-ebv-associated-hemophagocytic-lymphohistiocytosis-with-combined-emapalumab-and-pd-1-blockade
#13
LETTER
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
https://read.qxmd.com/read/38393459/thymic-atrophy-and-immune-dysregulation-in-infants-with-complex-congenital-heart-disease
#14
JOURNAL ARTICLE
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
https://read.qxmd.com/read/38381212/neuropathologic-impacts-of-jak-inhibitor-treatment-in-aicardi-gouti%C3%A3-res-syndrome
#15
LETTER
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
https://read.qxmd.com/read/38372823/cord-blood-transplantation-for-very-early-onset-inflammatory-bowel-disease-caused-by-interleukin-10-receptor-deficiency
#16
JOURNAL ARTICLE
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
https://read.qxmd.com/read/38363477/a-novel-heterozygous-variant-in-aicda-impairs-ig-class-switching-and-somatic-hypermutation-in-human-b-cells-and-is-associated-with-autosomal-dominant-higm2-syndrome
#17
JOURNAL ARTICLE
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
https://read.qxmd.com/read/38363457/non-helicobacter-pylori-helicobacter-species-as-a-cause-of-refractory-chronic-cellulitis-in-x-linked-agammaglobulinemia
#18
LETTER
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
https://read.qxmd.com/read/38363452/enrichment-of-immune-dysregulation-disorders-in-adult-patients-with-human-inborn-errors-of-immunity
#19
JOURNAL ARTICLE
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
https://read.qxmd.com/read/38363450/compound-heterozygosity-in-hyper%C3%A2-igm-syndrome-type-3-case-report-and-literature-review
#20
LETTER
Sultan Majid, Nikki Kimura, Fung Lam, Vincent Bonagura
No abstract text is available yet for this article.
February 16, 2024: Journal of Clinical Immunology
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