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JOURNAL ARTICLE
Magnhild E Macpherson, Tonje Skarpengland, Johannes R Hov, Trine Ranheim, Beate Vestad, Tuva B Dahl, Mai S A Fraz, Annika E Michelsen, Kirsten B Holven, Børre Fevang, Rolf K Berge, Pål Aukrust, Bente Halvorsen, Silje F Jørgensen
PURPOSE: Triglycerides (TG) and their major transport lipoprotein in the circulation (VLDL) appear to be related to inflammation. Patients with common variable immunodeficiency (CVID) have inflammatory complications associated with gut microbial dysbiosis. We hypothesized that CVID patients have disturbed TG/VLDL profiles associated with these clinical characteristics. METHODS: We measured plasma concentrations of TGs, inflammatory markers, and lipopolysaccharide (LPS) in 95 CVID patients and 28 healthy controls...
March 30, 2023: Journal of Clinical Immunology
#2
Hakim Hocini, Aurélie Wiedemann, Fabiola Blengio, Cécile Lefebvre, Minerva Cervantes-Gonzalez, Emile Foucat, Pascaline Tisserand, Mathieu Surenaud, Séverin Coléon, Mélanie Prague, Lydia Guillaumat, Corinne Krief, Craig Fenwick, Cédric Laouénan, Lila Bouadma, Jade Ghosn, Giuseppe Pantaleo, Rodolphe Thiébaut, Yves Lévy
No abstract text is available yet for this article.
March 30, 2023: Journal of Clinical Immunology
#3
LETTER
Leslie A Fogel, R Mark Grady, Mai He, Maleewan Kitcharoensakkul
No abstract text is available yet for this article.
March 24, 2023: Journal of Clinical Immunology
#4
JOURNAL ARTICLE
Christina Nöltner, Alla Bulashevska, Katrin Hübscher, Hanna Haberstroh, Bodo Grimbacher, Michele Proietti
OBJECTIVE: Common variable immunodeficiency (CVID) is the most common clinically relevant entity of inborn errors of immunity. In these patients, an altered gut microbiome composition with reduced diversity has been described. We sought to investigate the fecal immunoglobulin levels and their impact on the gut microflora in patients with CVID. METHODS: We analyzed the gut microbiome of 28 CVID patients and 42 healthy donors (HDs), including 21 healthy household controls, by sequencing the V3 and V4 regions of the bacterial 16S rRNA gene extracted from stool samples...
March 24, 2023: Journal of Clinical Immunology
#5
JOURNAL ARTICLE
Kerri L Sowers, Adel Sawaged, Brian Bowen
PURPOSE: Chronic sleep issues can lead to poor quality of life and increased mortality and patients with chronic health conditions often report impaired sleep quality. Higher levels of fatigue have been identified in patients diagnosed with inborn errors of immunity (or primary immunodeficiency diseases). This research sought to better understand perceived sleep quality in individuals diagnosed with IEI. METHODS: A survey, which included the validated Sleep Quality Scale, was shared across multiple social media groups for individuals with a diagnosis of IEI...
March 24, 2023: Journal of Clinical Immunology
#6
JOURNAL ARTICLE
Wenhui Li, Yuting Sun, Lang Yu, Ran Chen, Rui Gan, Luyao Qiu, Gan Sun, Junjie Chen, Lina Zhou, Yuan Ding, Hongqiang Du, Zhou Shu, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Xiaodong Zhao, Qin Zhao, Yunfei An
The dedicator of cytokinesis 2(DOCK2) protein, an atypical guanine nucleotide exchange factor (GEFs), is a member of the DOCKA protein subfamily. DOCK2 protein deficiency is characterized by early-onset lymphopenia, recurrent infections, and lymphocyte dysfunction, which was classified as combined immune deficiency with neutrophil abnormalities as well. The only cure is hematopoietic stem cell transplantation. Here, we report two patients harboring four novel DOCK2 mutations associated with recurrent infections including live attenuated vaccine-related infections...
March 22, 2023: Journal of Clinical Immunology
#7
JOURNAL ARTICLE
Hakim Hocini, Aurélie Wiedemann, Fabiola Blengio, Cécile Lefebvre, Minerva Cervantes-Gonzalez, Emile Foucat, Pascaline Tisserand, Mathieu Surenaud, Séverin Coléon, Mélanie Prague, Lydia Guillaumat, Corinne Krief, Craig Fenwick, Cédric Laouénan, Lila Bouadma, Jade Ghosn, Giuseppe Pantaleo, Rodolphe Thiébaut, Yves Lévy, Laurent Abel, Amal Abrous, Claire Andrejak, François Angoulvant, Delphine Bachelet, Marie Bartoli, Sylvie Behilill, Marine Beluze, Krishna Bhavsar, Anissa Chair, Charlotte Charpentier, Léo Chenard, Catherine Chirouze, Sandrine Couffin-Cadiergues, Camille Couffignal, Nathalie DE Castro, Marie-Pierre Debray, Dominique Deplanque, Diane Descamps, Alpha Diallo, Fernanda Dias DA Silva, Céline Dorival, Xavier Duval, Philippine Eloy, Vincent Enouf, Hélène Esperou, Marina Esposito-Farese, Manuel Etienne, Aline-Marie Florence, Alexandre Gaymard, Tristan Gigante, Morgane Gilg, François Goehringer, Jérémie Guedj, Ikram Houas, Isabelle Hoffmann, Jean-Sébastien Hulot, Salma Jaafoura, Simon Jamard, Ouifiya Kafif, Antoine Khalil, Nadhem Lafhej, Samira Laribi, Minh Le, Quentin LE Hingrat, Soizic LE Mestre, Sophie Letrou, Bruno Lina, Guillaume Lingas, Denis Malvy, France Mentré, Hugo Mouquet, Nadège Neant, Christelle Paul, Aurélie Papadopoulos, Ventzislava Petrov-Sanchez, Gilles Peytavin, Valentine Piquard, Olivier Picone, Manuel Rosa-Calatrava, Bénédicte Rossignol, Patrick Rossignol, Carine Roy, Marion Schneider, Coralie Tardivon, Jean-François Timsit, Sarah Tubiana, Sylvie VAN DER Werf, Benoit Visseaux
PURPOSE: Following a severe COVID-19 infection, a proportion of individuals develop prolonged symptoms. We investigated the immunological dysfunction that underlies the persistence of symptoms months after the resolution of acute COVID-19. METHODS: We analyzed cytokines, cell phenotypes, SARS-CoV-2 spike-specific and neutralizing antibodies, and whole blood gene expression profiles in convalescent severe COVID-19 patients 1, 3, and 6 months following hospital discharge...
March 21, 2023: Journal of Clinical Immunology
#8
JOURNAL ARTICLE
Hanna Haberstroh, Aleksandra Hirsch, Sigune Goldacker, Norbert Zessack, Klaus Warnatz, Bodo Grimbacher, Ulrich Salzer
PURPOSE: This study assessed whether measuring immunoglobulin G (IgG) from dried blood spots (DBSs) using nephelometry is a suitable remote monitoring method for patients with primary immunodeficiencies (PID). METHODS: Patients receiving immunoglobulin replacement therapy for PID were included in this non-interventional single-arm study (DRKS-ID: DRKS00020522) conducted in Germany from December 4, 2019, to December 22, 2020. Three blood samples, two capillary DBSs (one mail-transferred and the other direct-transferred to the laboratory), and one intravenous were collected from each patient...
March 21, 2023: Journal of Clinical Immunology
#9
LETTER
Amy P Hsu
No abstract text is available yet for this article.
March 18, 2023: Journal of Clinical Immunology
#10
JOURNAL ARTICLE
Sophie Steiner, Tatjana Schwarz, Victor M Corman, Lara M Jeworowski, Sandra Bauer, Christian Drosten, Carmen Scheibenbogen, Leif G Hanitsch
PURPOSE: Humoral and cellular immune responses were described after COVID-19 vaccination in patients with common variable immunodeficiency disorder (CVID). This study aimed to investigate SARS-CoV-2-specific antibody quality and memory function of B cell immunity as well as T cell responses after COVID-19 vaccination in seroresponding and non-responding CVID patients. METHODS: We evaluated antibody avidity and applied a memory B cell ELSPOT assay for functional B cell recall memory response to SARS-CoV-2 after COVID-19 vaccination in CVID seroresponders...
March 17, 2023: Journal of Clinical Immunology
#11
JOURNAL ARTICLE
Zainab M Golwala, Nikita Gireesh Bhat, Jinhua Xu-Bayford, Tanja Stankova, Stuart Adams, Emma C Morris, Waseem Qasim, Claire Booth, Austen Worth, Maaike A Kusters, Reem Elfeky
PURPOSE: There is a lack of data on post-HSCT non-osteopenic bone pathology specifically for children with inborn errors of immunity (IEI). We collected data on non-osteopenic bone pathology in children with IEI post-HSCT over two decades in a large tertiary pediatric immunology center. METHODS: Descriptive study with data analysis of bone pathology in allo-HSCT for IEI was performed between 1/1/2000 to 31/12/2018 including patients alive at follow-up to July 2022...
March 17, 2023: Journal of Clinical Immunology
#12
LETTER
Hasan Hashem, Yazan Alnasser
No abstract text is available yet for this article.
March 13, 2023: Journal of Clinical Immunology
#13
Elif Ozturk, Mehmet Cihangir Catak, Ayca Kiykim, Dilek Baser, Sevgi Bilgic Eltan, Koray Yalcin, Nurhan Kasap, Ercan Nain, Alper Bulutoglu, Gamze Akgun, Yasemin Can, Asena Pinar Sefer, Royala Babayeva, Suar Caki-Kilic, Gulsun Tezcan Karasu, Akif Yesilipek, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris
No abstract text is available yet for this article.
March 11, 2023: Journal of Clinical Immunology
#14
JOURNAL ARTICLE
Wenny Santaniemi, Pirjo Åström, Virpi Glumoff, Nora Pernaa, Ella-Noora Tallgren, Sanna Palosaari, Antti Nissinen, Meri Kaustio, Outi Kuismin, Janna Saarela, Katariina Nurmi, Kari K Eklund, Mikko R J Seppänen, Timo Hautala
Loss-of-function (LOF) mutations in NFKB1, coding for p105, may cause common variable immunodeficiency due to dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κΒ) pathway. Monoallelic LOF variants of NFKB1 can predispose to uncontrolled inflammation including sterile necrotizing fasciitis or pyoderma gangrenosum. In this study, we explored the impact of a heterozygous NFKB1 c.C936T/p.R157X LOF variant on immunity in sterile fasciitis patients and their family members...
March 9, 2023: Journal of Clinical Immunology
#15
LETTER
Rebecca C Hale, Nichole Owen, Bo Yuan, Ivan K Chinn
No abstract text is available yet for this article.
March 9, 2023: Journal of Clinical Immunology
#16
JOURNAL ARTICLE
Ruwaydah Ahmed Meelad, Intan Juliana Abd Hamid, Zarina Thasneem Zainudeen, Ilie Fadzilah Hashim, Muhd Nur Akmal Azizuddin, Ernest Mangantig, Fahisham Taib, Norsarwany Mohamad, Intan Hakimah Ismail, Amir Hamzah Abdul Latiff, Lokman Mohd Noh
PURPOSE: Primary immunodeficiency disease (PID) affects various aspects of a patient's life. However, the health-related quality of life (HRQOL) of PID among Malaysian patients is poorly described. This study aimed to determine the quality of life of PID patients and their respective parents. METHOD: This cross-sectional study was performed from August 2020 to November 2020. Patients with PID and their families were invited to answer the PedsQL Malay version (4...
March 7, 2023: Journal of Clinical Immunology
#17
LETTER
Peter Olbrich, José Ivorra Cortés, Olaf Neth, Pilar Blanco-Lobo
No abstract text is available yet for this article.
March 7, 2023: Journal of Clinical Immunology
#18
JOURNAL ARTICLE
Xun Li, Haipeng Yan, Zhenghui Xiao, Ting Luo, Longlong Xie, Yufan Yang, Ling Gong, Zhexuan Tang, Minghui Tang, Jiaotian Huang, Xinping Zhang, Mincui Zheng, Zhenya Yao, Ping Zang, Desheng Zhu, Xiulan Lu
PURPOSE: The first step in diagnosing hemophagocytic lymphohistiocytosis (HLH) is to suspect its presence and then order the appropriate diagnostic tests. The development of screening procedures for HLH could facilitate early diagnosis. In this study, we evaluated the utility of fever, splenomegaly, and cytopenias as screening criteria for identifying pediatric HLH at an early stage, built a screening model using commonly measured laboratory parameters, and developed a step-wise screening procedure for pediatric HLH...
March 6, 2023: Journal of Clinical Immunology
#19
JOURNAL ARTICLE
A-Na Hou, Yuanyuan Wang, Yu-Qing Pan
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is a serious disorder, which may comprise diabetes, thyroid disease, enteropathy, cytopenias, eczema, and other multi-system autoimmune dysfunction features. IPEX syndrome is caused by mutations in the forkhead box P3 (FOXP3) gene. Here, we report the clinical manifestations of a patient with IPEX syndrome onset in the neonatal period. A de novo mutation at exon 11 of the FOXP3 gene (c.1190G > A, p.R397Q) was found, and its main clinical manifestations included hyperglycemia and hypothyroidism...
March 3, 2023: Journal of Clinical Immunology
#20
LETTER
Sarah Johnson, John C McDonnell, James M Fernandez
No abstract text is available yet for this article.
March 2, 2023: Journal of Clinical Immunology
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