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Items: 1 to 20 of 154

1.
Extra X, extra questions: Trisomy X syndrome and IgA deficiency – a case report
Fabrizio Leone, Alessandra Gori, Bianca Laura Cinicola, Giulia Brindisi, Vittorio Maglione, Caterina Anania, Anna Maria Zicari
Front Immunol. 2024; 15: 1518076. Published online 2024 Dec 6. doi: 10.3389/fimmu.2024.1518076
PMCID:
PMC11659227
ArticlePDF–1.1M
2.
Mechanotransduction governs CD40 function and underlies X-linked hyper-IgM syndrome
Hyun-Kyu Choi, Stefano Travaglino, Matthias Münchhalfen, Richard Görg, Zhe Zhong, Jintian Lyu, David M. Reyes-Aguilar, Jürgen Wienands, Ankur Singh, Cheng Zhu
Sci Adv. 2024 Nov 15; 10(46): eadl5815. Published online 2024 Nov 15. doi: 10.1126/sciadv.adl5815
PMCID:
PMC11566996
ArticlePDF–2.3M
3.
Immunological characterization of IgG subclass deficiency reveals decreased Tregs and increased circulating costimulatory and regulatory immune checkpoints
Per Wågström, Maria Hjorth, Daniel Appelgren, Janne Björkander, Charlotte Dahle, Mats Nilsson, Åsa Nilsdotter-Augustinsson, Jan Ernerudh, Sofia Nyström
Front Immunol. 2024; 15: 1442749. Published online 2024 Aug 14. doi: 10.3389/fimmu.2024.1442749
PMCID:
PMC11349633
ArticlePDF–8.1M
4.
IgA Deficiency and the MHC: Assessment of Relative Risk and Microheterogeneity Within the HLA A1 B8, DR3 (8.1) Haplotype
Javad Mohammadi, Ryan Ramanujam, Sara Jarefors, Nima Rezaei, Asghar Aghamohammadi, Peter K. Gregersen, Lennart Hammarström
J Clin Immunol. Author manuscript; available in PMC 2024 Aug 1.
Published in final edited form as: J Clin Immunol. 2010 Jan; 30(1): 138–143. Published online 2009 Oct 16. doi: 10.1007/s10875-009-9336-2
PMCID:
PMC11292587
ArticlePDF–77K
5.
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency
Aaqib Zaffar Banday, Rahila Nisar, Pratap Kumar Patra, Anit Kaur, Rohit Sadanand, Chakshu Chaudhry, Syed Tariq Ahmed Bukhari, Saquib Zaffar Banday, Dharmagat Bhattarai, Luigi D. Notarangelo
J Clin Immunol. Author manuscript; available in PMC 2024 Jul 17.
Published in final edited form as: J Clin Immunol. 2023 Dec 22; 44(1): 17. Published online 2023 Dec 22. doi: 10.1007/s10875-023-01633-1
PMCID:
PMC11252661
ArticlePDF–1.0M
6.
Gene Signature of Regulatory T Cells Isolated from Children with Selective IgA Deficiency and Common Variable Immunodeficiency
Magdalena Rutkowska-Zapała, Agnieszka Grabowska-Gurgul, Marzena Lenart, Anna Szaflarska, Anna Kluczewska, Monika Mach-Tomalska, Monika Baj-Krzyworzeka, Maciej Siedlar
Cells. 2024 Mar; 13(5): 417. Published online 2024 Feb 27. doi: 10.3390/cells13050417
PMCID:
PMC10930802
ArticlePDF–2.8M
7.
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
ArticlePDF–2.0M
8.
CD40L Activates Platelet Integrin αIIbβ3 by Binding to the Allosteric Site (Site 2) in a KGD-Independent Manner and HIGM1 Mutations Are Clustered in the Integrin-Binding Sites of CD40L
Yoko K. Takada, Michiko Shimoda, Yoshikazu Takada
Cells. 2023 Aug; 12(15): 1977. Published online 2023 Jul 31. doi: 10.3390/cells12151977
PMCID:
PMC10416995
ArticlePDF–3.2M
9.
CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report
Hong-bo Xu, Mao-qiang Tian, Yong-hua Bai, Xiao Ran, Lei Li, Yan Chen
BMC Pediatr. 2023; 23: 239. Published online 2023 May 13. doi: 10.1186/s12887-023-04054-6
PMCID:
PMC10182603
ArticlePDF–1.7M
10.
Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China
Huifeng Fan, Li Huang, Diyuan Yang, Changhao Zhang, Qiang Zeng, Genquan Yin, Gen Lu, Kunling Shen
BMC Pediatr. 2022; 22: 675. Published online 2022 Nov 22. doi: 10.1186/s12887-022-03726-z
PMCID:
PMC9682706
ArticlePDF–1.5M
11.
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia
Chai Teng Chear, Bader Abdul Kader El Farran, Marina Sham, Kavetha Ramalingam, Lokman Mohd Noh, Intan Hakimah Ismail, Mei Yee Chiow, Mohd Farid Baharin, Adiratna Mat Ripen, Saharuddin Bin Mohamad
Genes (Basel) 2022 Oct; 13(10): 1900. Published online 2022 Oct 19. doi: 10.3390/genes13101900
PMCID:
PMC9602067
ArticlePDF–2.0M
12.
A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting
Johannes Dirks, Gabriele Haase, Tineke Cantaert, Lea Frey, Moritz Klaas, Christian H. Rickert, Hermann Girschick, Eric Meffre, Henner Morbach
J Clin Immunol. 2022; 42(4): 771–782. Published online 2022 Mar 5. doi: 10.1007/s10875-022-01233-5
PMCID:
PMC9166864
ArticlePDF–2.7M
13.
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature
Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Aldesia Provenzano, Sabrina Giglio, Paola Parronchi, Giandomenico Maggiore, Oreste Gallo, Alessandro Bartoloni, Francesco Annunziato, Lorenzo Zammarchi, Francesco Liotta
Front Immunol. 2022; 13: 840767. Published online 2022 Apr 28. doi: 10.3389/fimmu.2022.840767
PMCID:
PMC9096836
ArticlePDF–2.1M
14.
Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family
Taco W. Kuijpers, Samantha A. M. Tromp, Ester M. M. van Leeuwen, Godelieve J. de Bree
Front Immunol. 2022; 13: 865838. Published online 2022 Apr 11. doi: 10.3389/fimmu.2022.865838
PMCID:
PMC9036438
ArticlePDF–1.5M
15.
Progressive choreodystonia in X‐linked hyper‐IgM immunodeficiency: a rare but recurrent presentation
Matej Škorvánek, Robert Jech, Juliane Winkelmann, Michael Zech
Ann Clin Transl Neurol. 2022 Apr; 9(4): 577–581. Published online 2022 Mar 10. doi: 10.1002/acn3.51538
PMCID:
PMC8994980
ArticlePDF–213K
16.
Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1
Liwen Wu, Feng Yang, Jia Wang, Fan Yang, Mengmeng Liang, Haiyan Yang
Mol Genet Genomic Med. 2022 Mar; 10(3): e1873. Published online 2022 Jan 29. doi: 10.1002/mgg3.1873
PMCID:
PMC8922962
ArticlePDF–888K
17.
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
ArticlePDF–3.6M
18.
The Role of HLA in the Association between IgA Deficiency and Celiac Disease
Dimitri Poddighe, Cristina Capittini
Dis Markers. 2021; 2021: 8632861. Published online 2021 Dec 13. doi: 10.1155/2021/8632861
PMCID:
PMC8856801
ArticlePDF–479K
19.
Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency
Yujuan Hou, Hans Peter Gratz, Guillermo Ureña-Bailén, Paul G. Gratz, Karin Schilbach-Stückle, Tina Renno, Derya Güngör, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger
Genes (Basel) 2022 Jan; 13(1): 35. Published online 2021 Dec 23. doi: 10.3390/genes13010035
PMCID:
PMC8774591
ArticlePDF–3.2M
20.
Novel Genetic Discoveries in Primary Immunodeficiency Disorders
Margaret T. Redmond, Rebecca Scherzer, Benjamin T. Prince
Clin Rev Allergy Immunol. 2022; 63(1): 55–74. Published online 2022 Jan 12. doi: 10.1007/s12016-021-08881-2
PMCID:
PMC8753955
ArticlePDF–900K

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