Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations
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DOI: 10.1007/s10875-017-0433-3
Abstract: Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene… read more here.
Keywords: combined immune; immune deficiency; adenosine deaminase; deficiency ... See more keywords
Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency.
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DOI: 10.1016/j.aller.2019.12.006
Abstract: BACKGROUND Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) can underlie primary immune deficiency. The prevalence and phenotypic characterization of these patients are not well described in Egypt. OBJECTIVES To describe patients with APDS in… read more here.
Keywords: delta syndrome; cohort; primary immune; immune deficiency ... See more keywords
Transplantation Outcomes for Children with Severe Combined Immune Deficiency (SCID) Have Improved over Time: A 36-Year Summary Report By the Primary Immune Deficiency Treatment Consortium (PIDTC)
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DOI: 10.1016/j.bbmt.2019.12.083
Abstract: Background With >36 years of data collected, PIDTC prospective (6901) and retrospective (6902) natural history studies provide an unprecedented opportunity to study hematopoietic cell transplantation (HCT) outcomes for SCID over time. Methods Patients in this… read more here.
Keywords: scid; transplantation outcomes; immune deficiency; time ... See more keywords
Common Variable Immune Deficiency and Associated Complications.
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DOI: 10.1016/j.chest.2019.05.009
Abstract: Common variable immunodeficiency (CVID) disorders refer to a relatively common primary immune deficiency group of diseases that present with infectious and inflammatory complications secondary to defects in antibody production and sometimes in cellular immunity. The… read more here.
Keywords: deficiency associated; common variable; immune deficiency; variable immune ... See more keywords
Utilization of intravenous or subcutaneous immunoglobulins in secondary immune deficiency (ULTIMATE): A retrospective multicenter study.
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DOI: 10.1016/j.clim.2020.108419
Abstract: INTRODUCTION We conducted a retrospective multicenter cohort study of patients receiving Immunoglobulin replacement therapy (IgRT) for secondary immune deficiency (SID) during 2012. METHODS Data were retrospectively collected from the first dose of Ig administered in… read more here.
Keywords: secondary immune; retrospective multicenter; immune deficiency; study ... See more keywords
Primary immune deficiency diseases as unrecognized causes of chronic respiratory disease.
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DOI: 10.1016/j.rmed.2017.10.016
Abstract: BACKGROUND More than half of all primary immune deficiency diseases (PIDD) affect antibody production and are well known as causes of recurrent sinusitis and lung infections. Chronic and recurrent infections of the upper and/or lower… read more here.
Keywords: deficiency diseases; disease; diseases unrecognized; primary immune ... See more keywords
How to investigate a suspected immune deficiency in adults.
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DOI: 10.1016/j.rmed.2020.106100
Abstract: Patients with immune deficiencies can present with variable clinical phenotypes. This often translates into a significant delay in their diagnosis, and resultant patient morbidity. This review summarises the most common types of immunodeficiency disorders, primary… read more here.
Keywords: medicine; suspected immune; immune deficiency; deficiency adults ... See more keywords
Croquemort elicits activation of the immune deficiency pathway in ticks.
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DOI: 10.1073/pnas.2208673120
Abstract: The immune deficiency (IMD) pathway directs host defense in arthropods upon bacterial infection. In Pancrustacea, peptidoglycan recognition proteins sense microbial moieties and initiate nuclear factor-κB-driven immune responses. Proteins that elicit the IMD pathway in non-insect… read more here.
Keywords: pathway; elicits activation; croquemort elicits; immune deficiency ... See more keywords
Acquired Immune Deficiency Syndrome in Differential Diagnosis of Hyper-IgE-Immunoglobulinemia: Pediatric Case Report.
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DOI: 10.1093/tropej/fmw053
Abstract: Acquired immune deficiency syndrome can be encountered with hypereosinophilia and hyperimmunoglobulin E (hyper-IgE) values, though these levels are rarely so high to be compared with hyperimmunoglobulin E syndrome. A 9-year-old boy presented with the complaint… read more here.
Keywords: ige; hyper ige; deficiency syndrome; acquired immune ... See more keywords
Economic impact of routine opt‐out antenatal human immune deficiency virus screening: A systematic review
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DOI: 10.1111/jocn.13787
Abstract: AIMS AND OBJECTIVES To evaluate the economic impact of routine testing of human immune deficiency virus in antenatal settings. BACKGROUND Many children are being infected with human immune deficiency virus through mother-to-child transmission of the… read more here.
Keywords: human immune; deficiency virus; immune deficiency; cost ... See more keywords
Autoimmune diseases associated with common variable immune deficiency
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DOI: 10.1111/pai.13339
Abstract: Common variable immunodeficiency (CVID) is the most prevalent primary immune deficiency, affecting roughly 2‐4/100 000 individuals in the general population. The etiology is currently unknown, even if several genetic mutations have been described, and no… read more here.
Keywords: cvid patients; autoimmune; immune deficiency; common variable ... See more keywords