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Items: 1 to 20 of 74

1.
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
2.
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
3.
Enhanced CD19 activity in B cells contributes to immunodeficiency in mice deficient in the ICF syndrome gene Zbtb24
Zhengzhou Ying, Swanand Hardikar, Joshua B. Plummer, Tewfik Hamidi, Bin Liu, Yueping Chen, Jianjun Shen, Yunxiang Mu, Kevin M. McBride, Taiping Chen
Cell Mol Immunol. 2023 Dec; 20(12): 1487–1498. Published online 2023 Nov 22. doi: 10.1038/s41423-023-01106-w
Correction in:
Cell Mol Immunol. 2024 Jan; 21(1): 100.
PMCID:
PMC10687020
ArticlePDF–2.2M
4.
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
5.
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
6.
Case report: Hemophagocytic lymphohistiocytosis in a child with primary immunodeficiency infected with Talaromyces marneffei
Huimin Yan, Yunjun Mo, Shilin Liu, Xiaojuan Luo, Lianlian Liu, Lintao Zhou, Xiuming Zhang, Yunsheng Chen, Ke Cao
Front Immunol. 2022; 13: 1038354. Published online 2022 Dec 2. doi: 10.3389/fimmu.2022.1038354
PMCID:
PMC9755863
ArticlePDF–9.1M
7.
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
8.
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
9.
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity
Koon-Wing Chan, Chung-Yin Wong, Daniel Leung, Xingtian Yang, Susanna F. S. Fok, Priscilla H. S. Mak, Lei Yao, Wen Ma, Huawei Mao, Xiaodong Zhao, Weiling Liang, Surjit Singh, Mohamed-Ridha Barbouche, Jian-Xin He, Li-Ping Jiang, Woei-Kang Liew, Minh Huong Thi Le, Dina Muktiarti, Fatima Johanna Santos-Ocampo, Reda Djidjik, Brahim Belaid, Intan Hakimah Ismail, Amir Hamzah Abdul Latiff, Way Seah Lee, Tong-Xin Chen, Jinrong Liu, Runming Jin, Xiaochuan Wang, Yin Hsiu Chien, Hsin-Hui Yu, Dinesh Raj, Revathi Raj, Jenifer Vaughan, Michael Urban, Sylvia van den Berg, Brian Eley, Anselm Chi-Wai Lee, Mas Suhaila Isa, Elizabeth Y. Ang, Bee Wah Lee, Allen Eng Juh Yeoh, Lynette P. Shek, Nguyen Ngoc Quynh Le, Van Anh Thi Nguyen, Anh Phan Nguyen Lien, Regina D. Capulong, Joanne Michelle Mallillin, Jose Carlo Miguel M. Villanueva, Karol Anne B. Camonayan, Michelle De Vera, Roxanne J. Casis-Hao, Rommel Crisenio M. Lobo, Ruby Foronda, Vicky Wee Eng Binas, Soraya Boushaki, Nadia Kechout, Gun Phongsamart, Siriporn Wongwaree, Chamnanrua Jiratchaya, Mongkol Lao-Araya, Muthita Trakultivakorn, Narissara Suratannon, Orathai Jirapongsananuruk, Teerapol Chantveerawong, Wasu Kamchaisatian, Lee Lee Chan, Mia Tuang Koh, Ke Juin Wong, Siew Moy Fong, Meow-Keong Thong, Zarina Abdul Latiff, Lokman Mohd Noh, Rajiva de Silva, Zineb Jouhadi, Khulood Al-Saad, Pandiarajan Vignesh, Ankur Kumar Jindal, Amit Rawat, Anju Gupta, Deepti Suri, Jing Yang, Elaine Yuen-Ling Au, Janette Siu-Yin Kwok, Siu-Yuen Chan, Wayland Yuk-Fun Hui, Gilbert T. Chua, Jaime Rosa Duque, Kai-Ning Cheong, Patrick Chun Yin Chong, Marco Hok Kung Ho, Tsz-Leung Lee, Wilfred Hing-Sang Wong, Wanling Yang, Pamela P. Lee, Wenwei Tu, Xi-Qiang Yang, Yu Lung Lau
Front Immunol. 2022; 13: 883446. Published online 2022 Jul 8. doi: 10.3389/fimmu.2022.883446
PMCID:
PMC9304939
ArticlePDF–2.5M
10.
Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation
Xue Gong, Yunru He, Guoyan Lu, Yulin Zhang, Yu Qiu, Lina Qiao, Yifei Li
BMC Med Genomics. 2022; 15: 153. Published online 2022 Jul 8. doi: 10.1186/s12920-022-01303-y
PMCID:
PMC9264746
ArticlePDF–1.5M
11.
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India
Amit Rawat, Madhubala Sharma, Pandiarajan Vignesh, Ankur Kumar Jindal, Deepti Suri, Jhumki Das, Vibhu Joshi, Rahul Tyagi, Jyoti Sharma, Gurjit Kaur, Yu-Lung Lau, Kohsuke Imai, Shigeaki Nonoyama, Michael Lenardo, Surjit Singh
Sci Rep. 2022; 12: 10416. Published online 2022 Jun 21. doi: 10.1038/s41598-022-14522-1
PMCID:
PMC9213413
ArticlePDF–2.2M
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.
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
15.
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
16.
Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles
Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh
Front Immunol. 2021; 12: 786164. Published online 2021 Dec 22. doi: 10.3389/fimmu.2021.786164
PMCID:
PMC8727435
ArticlePDF–13M
17.
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
Hassan Abolhassani, Ahmad Vosughimotlagh, Takaki Asano, Nils Landegren, Bertrand Boisson, Samaneh Delavari, Paul Bastard, Maribel Aranda-Guillén, Yating Wang, Fanglei Zuo, Fabian Sardh, Harold Marcotte, Likun Du, Shen-Ying Zhang, Qian Zhang, Nima Rezaei, Olle Kämpe, Jean-Laurent Casanova, Lennart Hammarström, Qiang Pan-Hammarström
J Clin Immunol. 2022; 42(1): 1–9. Published online 2021 Oct 23. doi: 10.1007/s10875-021-01151-y
PMCID:
PMC8536475
ArticlePDF–1.0M
18.
CD40LG mutations in Vietnamese patients with X‐linked hyper‐IgM syndrome; catastrophic anti‐phospholipid syndrome as a new complication
Anh Nguyen Lien Phan, Thuy Thi Thanh Pham, Xinh Thi Phan, Nghia Huynh, Tuan Minh Nguyen, Cuc Tran Thu Cao, Duong Thuy Nguyen, Khanh Thi Xuan Luong, Tam Thi Minh Nguyen, Anh Ngoc Kim Tran, Linh Thi Truc Pham, Vy Vuong Thao Nguyen, Sigrid Swagemakers, Chi‐Bao Bui, Petrus Martinus Van Hagen
Mol Genet Genomic Med. 2021 Aug; 9(8): e1732. Published online 2021 Jun 10. doi: 10.1002/mgg3.1732
PMCID:
PMC8404229
ArticlePDF–647K
19.
A hyper-IgM syndrome mutation in activation-induced cytidine deaminase disrupts G-quadruplex binding and genome-wide chromatin localization
William T. Yewdell, Youngjun Kim, Priyanka Chowdhury, Colleen M. Lau, Ryan M. Smolkin, Kalina T. Belcheva, Keith C. Fernandez, Montserrat Cols, Wei-Feng Yen, Bharat Vaidyanathan, Davide Angeletti, Adrian B. McDermott, Jonathan W. Yewdell, Joseph C. Sun, Jayanta Chaudhuri
Immunity. Author manuscript; available in PMC 2021 Nov 17.
Published in final edited form as: Immunity. 2020 Nov 17; 53(5): 952–970.e11. Published online 2020 Oct 23. doi: 10.1016/j.immuni.2020.10.003
PMCID:
PMC8356774
ArticlePDF–3.3M
20.
Mitochondrial DNA insert into CD40 ligand gene‐associated X‐linked hyper‐IgM syndrome
Xuejing Li, Dan Xu, Beilei Cheng, Yunlian Zhou, Zhimin Chen, Yingshuo Wang
Mol Genet Genomic Med. 2021 May; 9(5): e1646. Published online 2021 Mar 24. doi: 10.1002/mgg3.1646
PMCID:
PMC8172197
ArticlePDF–800K

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