Late Onset Combined Immunodeficiency Presenting with Recurrent Pneumocystis jiroveci Pneumonia by Ilias Papakonstantinou, Ioannis G. Baraboutis, Lazaros Karnesis

“…Phenomena of immune reconstitution are described in various settings, including primary immunodeficiency, manifesting as temporary clinical and radiologic deterioration and leading to misperceptions of therapeutic failure and/or presence of alternative/additional diagnoses.…”
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A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees by Qiuting Dong, Jinxia Zhao, Zhongqiang Yao, Xiangyuan Liu, Huiying He

“…The X-linked hyperimmunoglobulin M syndrome (HIGM), caused by mutations in the CD40LG gene, is a kind of primary immunodeficiency disease (PID). Patients with X-linked HIGM are susceptible to infection as well as autoimmune diseases. …”
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Hyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China by Lixin Xie, Xiaoxiang Hu, Yang Li, Weihua Zhang, Liang'an Chen

“…Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. …”
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Novel ZAP-70-Related Immunodeficiency Presenting with Epstein–Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis by Moriah Forster, Timothy Moran, Anne Beaven, Timothy Voorhees

“…This is a novel ZAP-70 mutation (c.1623 + 5G > A) associated with combined immunodeficiency and an EBV-positive LPD. A primary immunodeficiency is important to consider in a young, otherwise healthy patient presenting with an EBV-positive LPD.…”
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Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases by A. Chin, S. Balasubramanyam, C. M. Davis

“…The discovery of autosomal dominant STAT3 deficiency marked the first recognition of hyper-IgE syndrome (HIES) and the first primary immunodeficiency linked to elevated IgE. Since then, genomic testing has increased the number of defects with associated mutations causing hyper-IgE syndrome and atopic diseases with FLG, DOCK8, SPINK5, and CARD11, among others. …”
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Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency by Gülsüm Alkan, Sevgi Keles, İsmail Reisli

“…Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production. …”
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Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency by Sílvia Bacalhau, Cristina Freitas, Rosalina Valente, Deolinda Barata, Conceição Neves, Katrin Schäfer, Annelie Lubatschofski, Ansgar Schulz, João Farela Neves

“…Because life-threatening disseminated BCG disease may occur in children with primary immunodeficiency, vaccination strategy against tuberculosis should be redefined in non-high-burden countries. …”
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Global Distribution of Common Variable Immunodeficiency (CVID) in the Light of the UNDP Human Development Index (HDI): A Preliminary Perspective of a Rare Disease by Niels Weifenbach, Annalena A. C. Schneckenburger, Stefan Lötters

“…Common variable immunodeficiency (CVID), although the most common primary immunodeficiency in humans, is a rare disease. We explored the spatial global distribution and country-wise prevalence of CVID, based on published data and those available from databases. …”
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Common variable immunodeficiency: An uncommon cause of bronchiectasis, granulomatous disease, chronic liver disease, and enteropathy – Case report and review of literature by Veena Shamsudeen, Arun Hegde, Uday Bhanu Kovilapu, Nisha Verma, Anurag Jain

“…Common variable immune deficiency (CVID) is a primary immunodeficiency syndrome, characterized by a defective B cell function. …”
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Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Rev... by Jing Wu, Wei-Fan Wang, Yi-Dan Zhang, Tong-Xin Chen

“…Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme. …”
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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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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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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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