Ausgabe 8/2024
Inhalt (21 Artikel)
A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
- Open Access
- Review
Aimee Huynh, Paul E Gray, Anna Sullivan, Joseph Mackie, Antoine Guerin, Geetha Rao, Karrnan Pathmanandavel, Erika Della Mina, Georgina Hollway, Matthew Hobbs, Karen Enthoven, Patrick O’Young, Sam McManus, Luke H. Wainwright, Megan Higgins, Fallon Noon, Melanie Wong, Paul Bastard, Qian Zhang, Jean-Laurent Casanova, Kuang-Chih Hsiao, Alberto Pinzon-Charry, Cindy S Ma, Stuart G. Tangye
Expanding the Clinical Phenotype with CD79A Mutation and Refractory Helicobacter Bilis Infection
- Comment
Archan Sil, Suprit Basu, Kanika Arora, Raju Khubchandani, Amit Rawat, Deepti Suri
Interferon Alpha Therapy in MSMD
- Correspondence
Vaishnavi V. Iyengar, Akshaya Chougule, Vijaya Gowri, Prasad Taur, Minnie Bodhanwala, Mukesh M. Desai
Expanding the Clinical Phenotype of Autosomal Recessive Chronic Granulomatous Disease
- Correspondence
Jennifer G. Chester, Alani M. Estrella, Douglas B. Kuhns, Christine K. Garcia, Ramsay L. Fuleihan
Severe Extrahematopoietic Manifestations in Complete STAT1 LOF after Successful Allogeneic HCT
- Open Access
- Correspondence
Friederike Frieß, Michael Flaig, Michael H. Albert, Christoph Klein, Fabian Hauck
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia
- Letter to Editor
Sarah S. Mehta, Armen Sanosyan, Megan A. Cooper, Jeffrey J. Bednarski, Catherine Gooch, Francesca Pala, Kayla Amini, Marita Bosticardo, Luigi D. Notarangelo, Maleewan Kitcharoensakkul
Description of BCG and Tuberculosis Disease in a Cohort of 79 Patients with Chronic Granulomatous Disease
- Research
Ximena León-Lara, Uriel Pérez-Blanco, Marco A Yamazaki-Nakashimada, Juan Carlos Bustamante-Ogando, Nancy Aguilar-Gómez, Hernán Cristerna-Tarrasa, Aidé-Tamara Staines-Boone, Omar J Saucedo-Ramírez, Eunice Fregoso-Zuñiga, Ana-Paola Macías-Robles, María R Canseco-Raymundo, Marco Venancio-Hernández, Cristina Moctezuma-Trejo, Berenise Gámez-González, Carmen Zarate-Hernández, Roselia Ramírez-Rivera, Selma Scheffler-Mendoza, Nancy Jiménez-Polvo, Leticia Hernández-Nieto, Jocelyn Carmona-Vargas, María L García-Cruz, Óscar Zavaleta-Martínez, Carla M Román-Montes, Victoria Cervantes-Parra, Anelena González-Reynoso, Rogelio Guzmán-Cotaya, Francisco Espinosa-Rosales, Patricia Saltigeral-Simental, Sara Espinosa-Padilla, Lizbeth Blancas Galicia
Insights into Patient Experiences with Facilitated Subcutaneous Immunoglobulin Therapy in Primary Immune Deficiency: A Prospective Observational Cohort
- Open Access
- Research
Ezgi Yalcin Gungoren, Melek Yorgun Altunbas, Ummugulsum Dikici, Zeynep Meric, Isil Eser Simsek, Ayca Kiykim, Salim Can, Esra Karabiber, Nalan Yakici, Fazil Orhan, Haluk Cokugras, Metin Aydogan, Oner Ozdemir, Sevgi Bilgic Eltan, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner
A Cross-Sectional Study of Health-Related Quality of Life in Patients with Predominantly Antibody Deficiency
- Research
Ahmed Elmoursi, Baijun Zhou, Mei-Sing Ong, Joseph S. Hong, Andrew Pak, Megha Tandon, Natalia Sutherland, Daniel V. DiGiacomo, Jocelyn R. Farmer, Sara Barmettler
DIAPH1-Deficiency is Associated with Major T, NK and ILC Defects in Humans
- Open Access
- Research
Zehra Busra Azizoglu, Royala Babayeva, Zehra Sule Haskologlu, Mustafa Burak Acar, Serife Ayaz-Guner, Fatma Zehra Okus, Mohammad Bilal Alsavaf, Salim Can, Kemal Erdem Basaran, Mehmed Fatih Canatan, Alper Ozcan, Hasret Erkmen, Can Berk Leblebici, Ebru Yilmaz, Musa Karakukcu, Mehmet Kose, Ozlem Canoz, Ahmet Özen, Elif Karakoc-Aydiner, Serdar Ceylaner, Gülsüm Gümüş, Huseyin Per, Hakan Gumus, Halit Canatan, Servet Ozcan, Figen Dogu, Aydan Ikinciogullari, Ekrem Unal, Safa Baris, Ahmet Eken
The Pathogenic Role of Anti-Granulocyte-Macrophage Colony-Stimulating Factor Autoantibodies in the Nocardiosis with the Central Nervous System Involvement
- Research
Yu-Fang Lo, Shang-Yu Wang, Yi-Hui Wu, Mao-Wang Ho, Chun-Fu Yeh, Tsai-Yi Wu, Jhan-Jie Peng, You-Ning Lin, Jing-Ya Ding, Han-Po Shih, Chia-Chi Lo, Yu-Pei Chan, Cheng-Shyuan Rau, Chen-Yen Kuo, Kun-Hua Tu, Wei-Te Lei, Yi-Chun Chen, Cheng-Lung Ku
Hypogammaglobulinemia and Infection Events in Patients with Autoimmune Diseases Treated with Rituximab: 10 Years Real-Life Experience
- Research
Yuxue Nie, Nianyi Zhang, Jingna Li, Di Wu, Yunjiao Yang, Li Zhang, Wei Bai, Nan Jiang, Lin Qiao, Can Huang, Shuang Zhou, Xinping Tian, Mengtao Li, Xiaofeng Zeng, Linyi Peng, Wen Zhang
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
- Open Access
- Research
Ondřej Vladyka, Jakub Zieg, Ondřej Pátek, Markéta Bloomfield, Zuzana Paračková, Anna Šedivá, Adam Klocperk
Long-Term Safety of Facilitated Subcutaneous Immunoglobulin 10% Treatment in US Clinical Practice in Patients with Primary Immunodeficiency Diseases: Results from a Post-Authorization Safety Study
- Open Access
- Research
Arye Rubinstein, Mohsen Mabudian, Donald McNeil, Niraj C. Patel, Richard L. Wasserman, Sudhir Gupta, Paz Carrasco, Jie Chen, Enrique Garcia, Andras Nagy, Leman Yel
Allogeneic Hematopoietic Stem Cell Transplantation in Immunodeficiency—Centromeric Instability—Facial Dysmorphism (ICF) Syndrome: an EBMT/ESID Inborn Errors Working Party Study
- Open Access
- Research
Dagmar Berghuis, Lubna S. Mehyar, Rolla Abu-Arja, Michael H. Albert, Jessie L. Barnum, Horst von Bernuth, Reem Elfeky, Philippe Lewalle, Alexandra Laberko, Sujal Ghosh, Mary A. Slatter, Corry M. R. Weemaes, Akif Yesilipek, Tiarlan Sirait, Bénédicte Neven, Andrew R. Gennery, Arjan C. Lankester
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia
- Research
Zhou Shu, Mengyue Deng, Tongxin Han, Huawei Mao
Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations
- Research
Wei-Te Lei, Yu-Fang Lo, Miyuki Tsumura, Jing-Ya Ding, Chia-Chi Lo, You-Ning Lin, Chuang-Wei Wang, Lu-Hang Liu, Han-Po Shih, Jhan-Jie Peng, Tsai-Yi Wu, Yu-Pei Chan, Chen-Xuan Kang, Shang-Yu Wang, Chen-Yen Kuo, Kun-Hua Tu, Chun-Fu Yeh, Ya-Ju Hsieh, Takaki Asano, Wen-Hung Chung, Satoshi Okada, Cheng-Lung Ku
Hereditary C1q Deficiency is Associated with Type 1 Interferon-Pathway Activation and a High Risk of Central Nervous System Inflammation
- Open Access
- Research
Clément Triaille, Neha Mohan Rao, Gillian I. Rice, Luis Seabra, Fraser J. H. Sutherland, Vincent Bondet, Darragh Duffy, Andrew R. Gennery, Benjamin Fournier, Brigitte Bader-Meunier, Christopher Troedson, Gavin Cleary, Helena Buso, Jacqueline Dalby-Payne, Prajakta Ranade, Katrien Jansen, Lien De Somer, Marie-Louise Frémond, Pallavi Pimpale Chavan, Melanie Wong, Russell C. Dale, Carine Wouters, Pierre Quartier, Raju Khubchandani, Yanick J. Crow
Racial Disparities in the Diagnosis of Inborn Errors of Immunity
- Research
Patrick O’Connell, O’Jay Stewart, Dusan Bogunovic
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency
- Open Access
- Research Article
Wenjing Ying, Xin Long, Travis Vandergriff, Hemanth Karnati, Meghan Heberton, Mingyi Chen, Xiaochuan Wang, Christian Wysocki, Xiao-Fei Kong
Correction to: Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency
- Open Access
- Correction
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
