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   Articles with "immune deficiency" as a keyword



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Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations

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recommendations! Published in 2017 at "Journal of Clinical Immunology"

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
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Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency.

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recommendations! Published in 2020 at "Allergologia et immunopathologia"

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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recommendations! Published in 2020 at "Biology of Blood and Marrow Transplantation"

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
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Common Variable Immune Deficiency and Associated Complications.

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recommendations! Published in 2019 at "Chest"

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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recommendations! Published in 2020 at "Clinical immunology"

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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recommendations! Published in 2017 at "Respiratory medicine"

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
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How to investigate a suspected immune deficiency in adults.

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recommendations! Published in 2020 at "Respiratory medicine"

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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recommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"

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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recommendations! Published in 2017 at "Journal of tropical pediatrics"

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

B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI

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recommendations! Published in 2024 at "Clinical Genetics"

DOI: 10.1111/cge.14571

Abstract: Microcephalic osteodysplastic primordial dwarfism type I (MOPDI) is a very rare and severe autosomal recessive disorder characterized by marked intrauterine growth retardation, skeletal dysplasia, microcephaly and brain malformations. MOPDI is caused by biallelic mutations in… read more here.

Keywords: twin sisters; cell; mopdi; immune deficiency ... See more keywords

Economic impact of routine opt‐out antenatal human immune deficiency virus screening: A systematic review

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recommendations! Published in 2017 at "Journal of Clinical Nursing"

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