Search Results - "Abolhassani , Hassan"
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Current genetic landscape in common variable immune deficiency
Published in Blood (27-02-2020)“…Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235 common variable immunodeficiency (CVID) patients seen in the United…”
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Ataxia‐telangiectasia: A review of clinical features and molecular pathology
Published in Pediatric allergy and immunology (01-05-2019)“…Ataxia‐telangiectasia (A‐T) is an autosomal recessive primary immunodeficiency (PID) disease that is caused by mutations in ataxia‐telangiectasia mutated (ATM)…”
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Specific Immune Response and Cytokine Production in CD70 Deficiency
Published in Frontiers in pediatrics (30-04-2021)“…Collective clinical and immunologic findings of defects in the CD27-CD70 axis indicate a primary immunodeficiency associated with terminal B-cell development…”
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Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency
Published in Genetics in medicine (01-01-2019)“…The etiology of 80% of patients with primary antibody deficiency (PAD), the second most common type of human immune system disorder after human…”
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A hypomorphic recombination-activating gene 1 ( RAG1 ) mutation resulting in a phenotype resembling common variable immunodeficiency
Published in Journal of allergy and clinical immunology (01-12-2014)“…Background Recombination-activating gene 1 (RAG1) deficiency presents with a varied spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of…”
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Impact of SARS-CoV-2 Pandemic on Patients with Primary Immunodeficiency
Published in Journal of clinical immunology (01-02-2021)“…Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less than 1:1000 infected individuals below the age of 50, but the real…”
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Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review
Published in Clinical reviews in allergy & immunology (01-12-2020)“…Activated phosphoinositide 3-kinase delta syndrome (APDS) is a novel primary immunodeficiency (PID) caused by heterozygous gain of function mutations in PI3Kδ…”
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B- and T-Cell Subset Abnormalities in Monogenic Common Variable Immunodeficiency
Published in Frontiers in immunology (15-06-2022)“…Common variable immunodeficiency (CVID) is a heterogeneous group of inborn errors of immunity characterized by reduced serum concentrations of different…”
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Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity
Published in Frontiers in immunology (17-08-2021)“…Inborn Errors of Immunity (IEI) comprise more than 450 inherited diseases, from which selected patients manifest a frequent and early incidence of…”
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Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
Published in Journal of clinical immunology (01-04-2022)“…Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the…”
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Novel mutations in TNFRSF7 / CD27 : Clinical, immunologic, and genetic characterization of human CD27 deficiency
Published in Journal of allergy and clinical immunology (01-09-2015)“…Background The clinical and immunologic features of CD27 deficiency remain obscure because only a few patients have been identified to date. Objective We…”
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RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency
Published in Journal of allergy and clinical immunology (01-05-2015)“…The affected gene encodes RAC2, a hematopoietic-specific member of the Rho family of guanosine triphosphatases (Rho GTPase), which are crucial regulators of…”
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Primary Immunodeficiency Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine–Derived Complications: A Systematic Review
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-04-2020)“…Bacillus Calmette-Guérin (BCG) vaccine is a live attenuated bacterial vaccine derived from Mycobacterium bovis, which is mostly administered to neonates in…”
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X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
Published in Journal of clinical immunology (01-01-2022)“…Background Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of clinical manifestations, ranging from asymptomatic to critical conditions…”
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Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia
Published in Journal of clinical immunology (2021)“…Background Ataxia-telangiectasia (AT) is a rare genetic condition, caused by biallelic deleterious variants in the ATM gene, and has variable immunological…”
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Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review
Published in Frontiers in immunology (2020)“…Zeta-Chain Associated Protein Kinase 70 kDa (ZAP-70) deficiency is a rare combined immunodeficiency (CID) caused by recessive homozygous/compound heterozygous…”
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Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders – Future Directions
Published in Journal of clinical immunology (01-05-2016)“…Primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous immune system diseases and around 300 forms of PID have been described to…”
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Autoimmunity in common variable immunodeficiency: epidemiology, pathophysiology and management
Published in Expert review of clinical immunology (01-02-2017)“…Common variable immunodeficiency (CVID) comprises a large heterogeneous group of patients with primary antibody deficiency. Areas covered: The affected…”
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From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature
Published in BMC pediatrics (13-02-2024)“…Severe combined immunodeficiencies (SCIDs) are hereditary disorders characterized by impaired T and B cell function, resulting in significant immune system…”
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SARS-CoV-2 infection in patients with inborn errors of immunity due to DNA repair defects
Published in Acta biochimica et biophysica Sinica (01-06-2022)“…Clinical information on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients with inborn errors of immunity (IEI) during the…”
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