Immunoglobulin replacement therapy in patients with primary and secondary immunodeficiencies: impact of infusion method on immunoglobulin-specific perceptions of quality of life an... by Rajiv Mallick, Noemi Hahn, Christopher Scalchunes

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Fatal Cholestatic Hepatitis in an Infant: An Unusual Etiology by Mark R Oliver, Alfredo Pinto, R Brent Scott

“…Recognition of the combination of adenoviral infection with underlying primary immunodeficiency is a prerequisite to the provision of genetic counselling.…”
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Measles neutralising antibody levels in patients receiving intravenous immunoglobulin treatment - a sub-analysis of a randomized, cross-over bioequivalence trial. by Vatsala Rajendram, Martyn Paddick, John More

“…There is limited data on measles antibody trough levels in treated primary immunodeficiency patients. The aim of this sub-analysis was to evaluate the measles antibody trough levels in treated primary immunodeficiency patients.…”
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Cryptosporidiosis in a Zoonotic Gastrointestinal Disorder Perspective by Thivya Balendran, Devika Iddawela, Sajanee Lenadora

“…Cryptosporidium infection is highly prevalent among immunocompromised patients with Acquired Immunodeficiency Syndrome, cancer, primary immunodeficiency, and organ transplant recipients. …”
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Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager by Panagiota Karananou, Anastasia Alataki, Efimia Papadopoulou-Alataki

“…Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency. It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways. …”
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Selective IgA Deficiency and Common Variable Immunodeficiency by Kadri Kamber, Zuhal Karalı, Sara Şebnem Kılıç

“…Selective IgA deficiency (sIgAD), using 5 mg/dl of serum IgA as the upper limit for diagnosis and concomitant lack of secretory IgA, is the most common form of primary immunodeficiency. The pathogenesis of IgA deficiency is not known, although abnormalities in Ig class switching and the cytokines involved in isotype switching have been implicated. …”
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Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature by Tatyana Gavrilova, Ari Zelig, Diana H. Lee

“…Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. …”
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A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings by Tinsae Alemayehu, Solomie Jebessa Deribessa

“…Background. Cellular primary immunodeficiencies are rarely reported from Africa. …”
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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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GATA2 participates in protection against hypoxia-induced pulmonary vascular remodeling. by Yuko Shirota, Shin'ya Ohmori, James Douglas Engel, Takashi Moriguchi

“…Heterozygous mutations in GATA2 can lead to a primary immunodeficiency syndrome with pulmonary manifestations. …”
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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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Expert insights on Hodgkin’s lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment by Francesca Conti, Francesca Conti, Mattia Moratti, Mattia Moratti, Elena Sabattini, Pier Luigi Zinzani, Pier Luigi Zinzani

“…Activated PI3K delta syndrome (APDS) is a primary immunodeficiency that is caused by mutations in the PI3K signalling pathway resulting in either gain-of-function or loss-of-function phenotypes of APDS 1 and 2. …”
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