Ausgabe 7/2024
Inhalt (21 Artikel)
- Review
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic 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
- Correspondence
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy
Ekra Rai, Ali Doroudchi, Benjamin Nulsen, Ramee Younes, Caroline Y. Kuo
- Correspondence
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency
Dharmagat Bhattarai, Aaqib Zaffar Banday, Phub Tenzin, Rahila Nisar, Pratap Kumar Patra
- Correspondence
Prevalence of Anti-Interferon Auto-Antibodies in Patients with Antibody Deficiency
Douglas L. Fink, Orest Idilli, Adrian Shields, Alex Richter, Siobhan O. Burns
- Correspondence
Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency
Elizabeth M. Forbes, Peter B. McNaughton
- Correspondence
Inheritance of STING mosaicism in two half-siblings
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
- Open Access
- Original Article
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
Zhaoyang Li, Andras Nagy, Dirk Lindner, Kim Duff, Enrique Garcia, Hakan Ay, Juan Carlos Rondon, Leman Yel
- Research
Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors
Yelei Gao, Ya Wang, Lina Zhou, Ge Lv, Jie Yu, Luying Zhang, Yan Meng, Wenli He, Ran Chen, Xiaodong Zhao, Ying Dou
- Correction
Correction to: Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors
Yelei Gao, Ya Wang, Lina Zhou, Ge Lv, Jie Yu, Luying Zhang, Yan Meng, Wenli He, Ran Chen, Xiaodong Zhao, Ying Dou
- Research
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum
Klevi Golloshi, William Mitchell, Deepak Kumar, Sakshi Malik, Suhag Parikh, Ahmed A. Aljudi, Sharon M. Castellino, Shanmuganathan Chandrakasan
- Open Access
- Research
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
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
- Open Access
- Research
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
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
- Research
Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
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
- Open Access
- Research
Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis
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
- Open Access
- Research
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
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
- Open Access
- Research
Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation
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
- Open Access
- Research
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans
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
- Research
Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia
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
- Research
Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience
Natalia Kuzmenko, Maxim Alexenko, Anna Mukhina, Yulia Rodina, Mariia Fadeeva, Dmitrii Pershin, Amina Kieva, Elena Raykina, Miсhael Maschan, Galina Novichkova, Anna Shcherbina
- Open Access
- Research
Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center
Xinxiu Xu, James Denton, Yaning Wu, Jie Liu, Qiaoning Guan, D. Brian Dawson, Jack Bleesing, Wenying Zhang
- Open Access
- Research
Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
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
