Ausgabe 7/2024
Inhalt (21 Artikel)
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
- Review
Nazanin Fathi, Matineh Nirouei, Zahra Salimian Rizi, Saba Fekrvand, Hassan Abolhassani, Fereshte Salami, Arsh Haj Mohamad Ebrahim Ketabforoush, Gholamreza Azizi, Amene Saghazadeh, Marzie Esmaeili, Amir Almasi-Hashiani, Nima Rezaei
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy
- Correspondence
Ekra Rai, Ali Doroudchi, Benjamin Nulsen, Ramee Younes, Caroline Y. Kuo
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency
- Correspondence
Dharmagat Bhattarai, Aaqib Zaffar Banday, Phub Tenzin, Rahila Nisar, Pratap Kumar Patra
Prevalence of Anti-Interferon Auto-Antibodies in Patients with Antibody Deficiency
- Correspondence
Douglas L. Fink, Orest Idilli, Adrian Shields, Alex Richter, Siobhan O. Burns
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency
- Correspondence
Elizabeth M. Forbes, Peter B. McNaughton
Inheritance of STING mosaicism in two half-siblings
- Correspondence
Alix de Becdelièvre, Laurye-Anne Eveillard, Beata Wolska-Kuśnierz, Marie-Louise Frémond, Laureline Berteloot, Yanick J. Crow, Clémence David, Alice Hadchouel, Bénédicte Neven, Pierre Quartier, Gillian I. Rice, Luis Seabra, Anne Welfringer-Morin
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants
- Open Access
- Original Article
Zhaoyang Li, Andras Nagy, Dirk Lindner, Kim Duff, Enrique Garcia, Hakan Ay, Juan Carlos Rondon, Leman Yel
Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors
- Research
Yelei Gao, Ya Wang, Lina Zhou, Ge Lv, Jie Yu, Luying Zhang, Yan Meng, Wenli He, Ran Chen, Xiaodong Zhao, Ying Dou
Correction to: Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors
- Correction
Yelei Gao, Ya Wang, Lina Zhou, Ge Lv, Jie Yu, Luying Zhang, Yan Meng, Wenli He, Ran Chen, Xiaodong Zhao, Ying Dou
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum
- Research
Klevi Golloshi, William Mitchell, Deepak Kumar, Sakshi Malik, Suhag Parikh, Ahmed A. Aljudi, Sharon M. Castellino, Shanmuganathan Chandrakasan
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
- Open Access
- Research
Sho Hashiguchi, Dan Tomomasa, Takuro Nishikawa, Shuji Ishikawa, Harumi Akaike, Hidehiko Kobae, Tsuyoshi Shirai, Toshikage Nagao, Kosuke Noma, Satoshi Okada, Kazuhiro Kamuro, Yasuhiro Okamoto, Hirokazu Kanegane
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
- Open Access
- Research
Huda Alajlan, Vlad-Stefan Raducanu, Yossef Lopez de los Santos, Muhammad Tehseen, Hibah Alruwaili, Amer Al-Mazrou, Reem Mohammad, Monther Al-Alwan, Alfredo De Biasio, Jasmeen S. Merzaban, Hamoud Al-Mousa, Samir M. Hamdan, Anas M. Alazami
Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
- Research
Bijun Sun, Luyao Liu, Lingli Han, Qifan Li, Qi Wu, Jia Hou, Wenjie Wang, Wenjing Ying, Qinhua Zhou, Feng Qian, Wei Lu, Xiaochuan Wang, Jinqiao Sun
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis
- Open Access
- Research
Elise M. N. Ferré, Diana X. Nichols-Vinueza, Lindsey B. Rosen, Peter D. Burbelo, Kevin P. Fennelly, Joseph Pechacek, Daniel M. Goldstein, Anahita Agharahimi, Annapurna Saksena, David E. Kleiner, Yesim Yilmaz Demirdag, Arun Rajan, David S. Schrump, Steven M. Holland, Alexandra F. Freeman, Michail S. Lionakis
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye
- Open Access
- Research
Baran Erman, Umran Aba, Canberk Ipsir, Damla Pehlivan, Caner Aytekin, Gökhan Cildir, Begum Cicek, Ceren Bozkurt, Sidem Tekeoglu, Melisa Kaya, Cigdem Aydogmus, Funda Cipe, Gulsan Sucak, Sevgi Bilgic Eltan, Ahmet Ozen, Safa Barıs, Elif Karakoc-Aydiner, Ayca Kıykım, Betul Karaatmaca, Hulya Kose, Dilara Fatma Kocacık Uygun, Fatih Celmeli, Tugba Arikoglu, Dilek Ozcan, Ozlem Keskin, Elif Arık, Elif Soyak Aytekin, Mahmut Cesur, Ercan Kucukosmanoglu, Mehmet Kılıc, Mutlu Yuksek, Zafer Bıcakcı, Saliha Esenboga, Deniz Çagdaş Ayvaz, Asena Pınar Sefer, Sukrü Nail Guner, Sevgi Keles, Ismail Reisli, Ugur Musabak, Nazlı Deveci Demirbas, Sule Haskologlu, Sara Sebnem Kilic, Ayse Metin, Figen Dogu, Aydan Ikinciogulları, Ilhan Tezcan
Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation
- Open Access
- Research
Timo Hautala, Ludmila Perelygina, Urpu Salmenniemi, Mikko R. J. Seppänen, Eeva Martelin, Vesa Lindström, Jouni Heiskanen, Terttu Harju, Airi Jartti, Päivi Jackson, Kaisa Tasanen, Outi Kuismin, Hannu Tuominen, Kathleen E. Sullivan, Yenan Bryceson
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans
- Open Access
- Research
Carlos A. Arango-Franco, Julian Rojas, Carolina Firacative, Mélanie Migaud, Clara Inés Agudelo, José Luis Franco, Jean-Laurent Casanova, Anne Puel, Jairo Lizarazo, Elizabeth Castañeda, Andrés A. Arias
Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia
- Research
Toru Kanamori, Tomohiro Udagawa, Takayuki Fujii, Hiroyoshi Matsukura, Yuka Iwaya, Motoshi Sonoda, Keisuke Sugimoto, Masahiro Takeguchi, Atsunori Yoshino, I-Feng Wang, Daw-Yang Hwang, Harry W. Schroeder, Masaki Shimizu, Hans D. Ochs, Tomohiro Morio, Hirokazu Kanegane
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience
- Research
Natalia Kuzmenko, Maxim Alexenko, Anna Mukhina, Yulia Rodina, Mariia Fadeeva, Dmitrii Pershin, Amina Kieva, Elena Raykina, Miсhael Maschan, Galina Novichkova, Anna Shcherbina
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center
- Open Access
- Research
Xinxiu Xu, James Denton, Yaning Wu, Jie Liu, Qiaoning Guan, D. Brian Dawson, Jack Bleesing, Wenying Zhang
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
- Open Access
- Research
Takanori Utsumi, Miyuki Tsumura, Masato Yashiro, Zenichiro Kato, Kosuke Noma, Fumiaki Sakura, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Hidenori Ohnishi, Charlotte Cunningham-Rundles, Peter D. Arkwright, Masao Kobayashi, Hirokazu Kanegane, Dusan Bogunovic, Bertrand Boisson, Jean-Laurent Casanova, Takaki Asano, Satoshi Okada
