The New Formulations of Immunoglobulin Replacement Therapies and Future Aspects by Elif Karakoç-aydıner

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Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome by Lin-Lin Wang, Wei Zhou, Wei Zhao, Zhi-Qing Tian, Wei-Fan Wang, Xiao-Fang Wang, Tong-Xin Chen

“…X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. …”
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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation by Soukaina Essadssi, Al Mehdi Krami, Lamiae Elkhattabi, Zouhair Elkarhat, Ghita Amalou, Houria Abdelghaffar, Hassan Rouba, Abdelhamid Barakat

“…Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency (PID), characterized by fatal opportunistic infections. …”
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Autoimmune Complications after Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Disorders by Abdalla Khalil, Irena Zaidman, Reuven Bergman, Ronit Elhasid, Myriam Weyl Ben-Arush

“…Between 2000 and 2012, 92 patients (47 males, 45 females) were treated with HSCT in our hospital, 51 with congenital hemoglobinopathies, 19 with primary immunodeficiency disease, 10 with metabolic disorders, five with Fanconi anemia, three with aplastic anemia, and four with familial hemophagocytic lymphohistiocytosis. …”
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Integrating bioinformatics and machine learning to identify AhR-related gene signatures for prognosis and tumor microenvironment modulation in melanoma by Qianru Li, Qianru Li, Heli Li

“…GSEA revealed that these genes are involved in primary immunodeficiency. Immune cell infiltration analysis demonstrated enrichment of CD4+ naïve and memory T cells, macrophages (M0 and M2), and CD8+ T cells in melanoma, all of which were associated with the expression of the four feature genes. …”
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Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths by Lingyun Zhang, Lei Feng, Hao Shi, Wenbin Niu, Yanchi Wang, Bei Bu, Yidong Liu, Xiao Bao, Wenyan Song, Haixia Jin, Yingpu Sun

“…Abstract Purpose Severe combined immunodeficiency (SCID) is a set of rare monogenic inherited diseases that together represent the most severe form of the primary immunodeficiency disease phenotype. Preimplantation genetic testing for monogenic defects (PGT-M) is an effective reproductive technology strategy to prevent disease-causing gene mutations from being transmitted to offspring. …”
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Relapsing Campylobacter jejuni Systemic Infections in a Child with X-Linked Agammaglobulinemia by Paola Ariganello, Giulia Angelino, Alessia Scarselli, Irene Salfa, Martina Della Corte, Arianna De Matteis, Patrizia D'Argenio, Susanna Livadiotti, Emma C. Manno, Cristina Russo, Andrea Finocchi, Caterina Cancrini

“…X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to a mutation in the Bruton tyrosine kinase (BTK) gene, characterized by a severe defect of circulating B cells and serum immunoglobulins. …”
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Adaptive Immune Response to Model Antigens Is Impaired in Murine Leukocyte-Adhesion Deficiency-1 Revealing Elevated Activation Thresholds In Vivo by Thorsten Peters, Wilhelm Bloch, Oliver Pabst, Claudia Wickenhauser, Claudia Uthoff-Hachenberg, Susanne V. Schmidt, Georg Varga, Stephan Grabbe, Daniel Kess, Tsvetelina Oreshkova, Anca Sindrilaru, Klaus Addicks, Reinhold Förster, Werner Müller, Karin Scharffetter-Kochanek

“…Absence of β2 integrins (CD11/CD18) leads to leukocyte-adhesion deficiency-1 (LAD1), a rare primary immunodeficiency syndrome. Although extensive in vitro work has established an essential function of β2 integrins in adhesive and signaling properties for cells of the innate and adaptive immune system, their respective participation in an altered adaptive immunity in LAD1 patients are complex and only partly understood in vivo. …”
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Post-vaccination campaign evaluation of systemic and mucosal immunity of trivalent oral poliovirus vaccine in Karachi, Pakistan (2020–2021): a cross-sectional studyResearch in cont... by Ali Faisal Saleem, Visalakshi Jeyaseelan, Zaubina Kazi, Mahjabeen Zehra, Muhammad Masroor Alam, Grace Macklin, Rocio Lopez Cavestany, Sajid Muhammad, Najeeb Rehman, Ondrej Mach

“…Children who were acutely ill, requiring hospitalisation, with primary immunodeficiency, or with a chronic medical illness, were excluded from the study. …”
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Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

“…Wiskott-Aldrich syndrome (WAS) (MIM #301000) is a rare X-linked primary immunodeficiency due to mutations in the WAS gene, characterized by thrombocytopenia with small platelets, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. …”
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Unveiling the prognostic value of ARID3A in breast cancer through bioinformatic analysis by Wen-Run Cai, Xu-Gang Sun, Yue Yu, Xin Wang, Xu-Chen Cao, Xiao-Feng Liu

“…A positive correlation with REXO1 was identified, and enrichment analysis emphasized ARID3A's involvement in immune-related pathways, such as “interferon gamma production” and “primary immunodeficiency.” PPI network and docking studies identified TP53 as a potential binding partner, suggesting a novel interaction influencing tumor progression. …”
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Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency by Ezgi Yalcin Gungoren, Zeynep Meric, Asena Pinar Sefer, Asuman Deveci Ozkan, Salim Can, Royala Babayeva, Nurhan Kasap, Ercan Nain, Esra Ozek Yucel, Ayca Kiykim, Sevgi Bilgic-Eltan, Ayse Deniz Yucelten, Elif Karakoc-Aydiner, Ahmet Ozen, Safa Baris

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Infectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage by Pedro Moral Moral, Pedro Moral Moral, Marta Dafne Cabanero-Navalon, Marta Dafne Cabanero-Navalon, Paula Teresa López-León, Paula Teresa López-León, Héctor Balastegui-Martín, Héctor Balastegui-Martín, Sandra Martínez Mercader, Sandra Martínez Mercader, Amparo Mir, Victor Garcia-Bustos, Victor Garcia-Bustos, Victor Garcia-Bustos

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A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features by Ugur Musabak, Serdar Ceylaner, Tuba Erdogan, Ebru Sebnem Ayva

“…Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. …”
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The dilemma of X-linked agammaglobulinemia carriers by Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD

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Tracing the Spectrum of Inborn Errors of Immunity from Past to Present by Safa Barış, Talal A. Chatila

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Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy by Nipat Chuleerarux, Nadia Makkoukdji, Travis Satnarine, Jessica Elise Kuhn, Tanawin Nopsopon, Peerada Valyasevi, Fernanda Bellodi Schmidt, Gary Kleiner, Melissa Gans

“…Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. …”
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Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations by Safa Barış, Talal A. Chatila

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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

“…Notably, the clinical presentations of this syndrome often closely resemble those of other primary immunodeficiencies. We present a case involving a 15-year-old male who displayed an immunological phenotype that bore a striking resemblance to hyper-IgM syndrome. …”
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Structure and Function of the LRBA Protein by Ege Ezen, Mehmet Cihangir Çatak, Feyza Bayram Çatak, Sofia Piepoli, Pegah Zahedimaram, Ecem Ultanır, Safa Barış, Batu Erman

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