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Items: 1 to 20 of 153

1.
Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients
Mingyi Yang, Mari Kaarbø, Vegard Myhre, Henrik M. Reims, Tom H. Karlsen, Junbai Wang, Torbjørn Rognes, Bente Halvorsen, Børre Fevang, Knut E. A. Lundin, Pål Aukrust, Magnar Bjørås, Silje F. Jørgensen
J Clin Immunol. 2024; 44(6): 133. Published online 2024 May 23. doi: 10.1007/s10875-024-01726-5
PMCID:
PMC11116262
AbstractArticlePDF–2.3M
2.
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects
Deniz Cagdas, Sevil Oskay Halaçlı, Çağman Tan, Bernice Lo, Pınar Gür Çetinkaya, Saliha Esenboğa, Betül Karaatmaca, Helen Matthews, Burcu Balcı-Hayta, Tuba Arıkoğlu, Fatih Ezgü, Elifcan Aladağ, İnci N. Saltık-Temizel, Hülya Demir, Barış Kuşkonmaz, Visal Okur, Fatma Gümrük, Hakan Göker, Duygu Çetinkaya, Kaan Boztuğ, Michael Lenardo, Özden Sanal, İlhan Tezcan
J Clin Immunol. Author manuscript; available in PMC 2024 May 13.
Published in final edited form as: J Clin Immunol. 2019 Oct; 39(7): 726–738. Published online 2019 Aug 20. doi: 10.1007/s10875-019-00677-6
PMCID:
PMC11090043
AbstractArticlePDF–1.1M
3.
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
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
J Clin Immunol. 2024; 44(3): 66. Published online 2024 Feb 16. doi: 10.1007/s10875-024-01665-1
PMCID:
PMC10873450
AbstractArticlePDF–2.0M
4.
Systematic review of mortality and survival rates for APDS
Jennifer Hanson, Penelope E. Bonnen
Clin Exp Med. 2024; 24(1): 17. Published online 2024 Jan 27. doi: 10.1007/s10238-023-01259-y
PMCID:
PMC10821986
AbstractArticlePDF–687K
5.
Monogenic forms of common variable immunodeficiency and implications on target therapeutic approaches
Giulio Tessarin, Manuela Baronio, Vassilios Lougaris
Curr Opin Allergy Clin Immunol. 2023 Dec; 23(6): 461–466. Published online 2023 Sep 28. doi: 10.1097/ACI.0000000000000947
PMCID:
PMC10621638
AbstractArticlePDF–212K
6.
Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report
Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia
Immun Inflamm Dis. 2023 Oct; 11(10): e1049. Published online 2023 Oct 20. doi: 10.1002/iid3.1049
PMCID:
PMC10587732
AbstractArticlePDF–545K
7.
Clinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Marie Valérie E. Andriessen, G. Elizabeth Legger, Robbert G. M. Bredius, Marielle E. van Gijn, A. Elisabeth Hak, Petra C. E. Hissink Muller, Sylvia Kamphuis, Femke C. C. Klouwer, Taco W. Kuijpers, Helen L. Leavis, Stefan Nierkens, Abraham Rutgers, Lars T. van der Veken, Gijs T. J. van Well, Catharina M. Mulders-Manders, Joris M. van Montfrans
J Clin Immunol. 2023; 43(7): 1581–1596. Published online 2023 Jun 5. doi: 10.1007/s10875-023-01521-8
PMCID:
PMC10499949
AbstractArticlePDF–1.3M
8.
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
Paulina Staus, Stephan Rusch, Sabine El-Helou, Gabriele Müller, Máté Krausz, Ulf Geisen, Andrés Caballero-Oteyza, Renate Krüger, Shahrzad Bakhtiar, Min Ae Lee-Kirsch, Maria Fasshauer, Ulrich Baumann, Bimba Franziska Hoyer, João Farela Neves, Michael Borte, Maria Carrabba, Fabian Hauck, Stephan Ehl, Peter Bader, Horst von Bernuth, Faranaz Atschekzei, Mikko R. J. Seppänen, Klaus Warnatz, Alexandra Nieters, Gerhard Kindle, Bodo Grimbacher
J Clin Immunol. 2023; 43(6): 1289–1301. Published online 2023 Apr 21. doi: 10.1007/s10875-023-01472-0
PMCID:
PMC10119522
AbstractArticlePDF–1.4M
9.
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperaviciute, Genomics England Research Consortium, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A. Eberle
Am J Hum Genet. 2023 Feb 2; 110(2): 240–250. Published online 2023 Jan 19. doi: 10.1016/j.ajhg.2023.01.001
PMCID:
PMC9943720
AbstractArticlePDF–3.0M
10.
Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry
Marta Dafne Cabañero-Navalon, Victor Garcia-Bustos, Maria Nuñez-Beltran, Pascual Císcar Fernández, Lourdes Mateu, Xavier Solanich, Juan Luis Carrillo-Linares, Ángel Robles-Marhuenda, Francesc Puchades-Gimeno, Ana Pelaez Ballesta, Nuria López-Osle, Miguel Ángel Torralba-Cabeza, Ana María Bielsa Masdeu, Jorge Diego Gil, Nuria Tornador Gaya, Guillem Pascual Castellanos, Rosario Sánchez-Martínez, José Manuel Barragán-Casas, Andrés González-García, José Luís Patier de la Peña, Daniel López-Wolf, Antonia Mora Rufete, Alba Canovas Mora, Maria José Forner Giner, Pedro Moral Moral
Front Immunol. 2022; 13: 1033666. Published online 2022 Oct 28. doi: 10.3389/fimmu.2022.1033666
PMCID:
PMC9650514
AbstractArticlePDF–859K
11.
Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency
Pauline van Schouwenburg, Susanne Unger, Kathryn J. Payne, Fabian M. P. Kaiser, Ingrid Pico-Knijnenburg, Jens Pfeiffer, Oliver Hausmann, David Friedmann, Michelle Erbel, Maximilian Seidl, David van Zessen, Andrew P. Stubbs, Mirjam van der Burg, Klaus Warnatz
Front Immunol. 2022; 13: 959002. Published online 2022 Oct 6. doi: 10.3389/fimmu.2022.959002
PMCID:
PMC9582261
AbstractArticlePDF–5.2M
12.
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis
Devesh Malik, Dennis W. Simon, Kavita Thakkar, Deepa S. Rajan, Kate F. Kernan
Genes Immun. 2022; 23(7): 235–239. Published online 2022 Oct 5. doi: 10.1038/s41435-022-00185-5
PMCID:
PMC9533258
AbstractArticlePDF–725K
13.
Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations
Frederik Staels, Kerstin De Keukeleere, Matias Kinnunen, Salla Keskitalo, Flaminia Lorenzetti, Michiel Vanmeert, Teresa Prezzemolo, Emanuela Pasciuto, Eveline Lescrinier, Xavier Bossuyt, Margaux Gerbaux, Mathijs Willemsen, Julika Neumann, Sien Van Loo, Anniek Corveleyn, Karen Willekens, Ingeborg Stalmans, Isabelle Meyts, Adrian Liston, Stephanie Humblet-Baron, Mikko Seppänen, Markku Varjosalo, Rik Schrijvers
Front Immunol. 2022; 13: 973543. Published online 2022 Sep 20. doi: 10.3389/fimmu.2022.973543
PMCID:
PMC9530060
AbstractArticlePDF–6.9M
14.
Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients
Jiafeng Yao, Hao Gu, Wenjun Mou, Zhenping Chen, Jie Ma, Honghao Ma, Nan Li, Rui Zhang, Tianyou Wang, Jin Jiang, Runhui Wu
Int J Immunopathol Pharmacol. 2022 Jan-Dec; 36: 03946320221125591. Published online 2022 Sep 8. doi: 10.1177/03946320221125591
PMCID:
PMC9465590
AbstractArticlePDF–1.7M
15.
Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity
Aniko Malik, Elizabeth Stringer, Neil Warner, Johan van Limbergen, Anthony Vandersteen, Aleixo Muise, Beata Derfalvi
Pediatrics. Author manuscript; available in PMC 2022 Aug 8.
Published in final edited form as: Pediatrics. 2021 Nov; 148(5): e2021050614. Published online 2021 Oct 22. doi: 10.1542/peds.2021-050614
PMCID:
PMC9359614
AbstractArticlePDF–301K
16.
Case Report: Whole-Genome Sequencing of Serially Collected Haemophilus influenzae From a Patient With Common Variable Immunodeficiency Reveals Within-Host Evolution of Resistance to Trimethoprim-Sulfamethoxazole and Azithromycin After Prolonged Treatment With These Antibiotics
Paul Christoffer Lindemann, Haima Mylvaganam, Oddvar Oppegaard, Inger Lill Anthonisen, Nermin Zecic, Dagfinn Skaare
Front Cell Infect Microbiol. 2022; 12: 896823. Published online 2022 Jun 1. doi: 10.3389/fcimb.2022.896823
PMCID:
PMC9199433
AbstractArticlePDF–2.2M
17.
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
Markus G. Seidel, Victoria K. Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch
J Clin Immunol. 2022; 42(3): 484–498. Published online 2021 Nov 19. doi: 10.1007/s10875-021-01177-2
Correction in:
J Clin Immunol. 2022; 42(3): 499.
PMCID:
PMC9016022
AbstractArticlePDF–1.3M
18.
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency
Georgios Sogkas, Natalia Dubrowinskaja, Katharina Schütz, Lars Steinbrück, Jasper Götting, Nicolaus Schwerk, Ulrich Baumann, Bodo Grimbacher, Torsten Witte, Reinhold E. Schmidt, Faranaz Atschekzei
Int Arch Allergy Immunol. 2022 Feb; 183(3): 337–349. Published online 2021 Oct 7. doi: 10.1159/000519199
PMCID:
PMC8985027
AbstractArticle
19.
Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India
Amit Rawat, Rahul Tyagi, Himanshi Chaudhary, Vignesh Pandiarajan, Ankur Kumar Jindal, Deepti Suri, Anju Gupta, Madhubala Sharma, Kanika Arora, Amanjit Bal, Priyanka Madaan, Lokesh Saini, Jitendra Kumar Sahu, Yumi Ogura, Tamaki Kato, Kohsuke Imai, Shigeaki Nonoyama, Surjit Singh
Sci Rep. 2022; 12: 4036. Published online 2022 Mar 8. doi: 10.1038/s41598-022-08019-0
PMCID:
PMC8904522
AbstractArticlePDF–3.6M
20.
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors
Luzia Bruns, Victoria Panagiota, Sandra von Hardenberg, Gunnar Schmidt, Ignatius Ryan Adriawan, Eleni Sogka, Stefanie Hirsch, Gerrit Ahrenstorf, Torsten Witte, Reinhold Ernst Schmidt, Faranaz Atschekzei, Georgios Sogkas
Front Immunol. 2022; 13: 742530. Published online 2022 Feb 17. doi: 10.3389/fimmu.2022.742530
PMCID:
PMC8893227
AbstractArticlePDF–1.3M

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