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Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorders (CVID) in the New Zealand CVID Cohort Study
Common variable immunodeficiency disorders (CVID) are the most frequent symptomatic primary immune deficiencies in adults and children. In addition...
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Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India
ObjectivesTo study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity...
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Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment
Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized...
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Neugeborenenscreening auf schwere kombinierte Immundefekte (SCID) in Deutschland
Patients with a severe combined immunodeficiency (SCID) harbor genetic mutations disrupting T cell immunity and hence suffer severe, life-threatening...
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The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
BackgroundCommon variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and...
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Clinical and immunological characterisation of patients with common variable immunodeficiency related immune thrombocytopenia
Primary Immune thrombocytopenia (ITP) is an autoimmune disease. Secondary ITP occurs in patients with underlying diseases such as common variable...
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Conditioning regimens for inborn errors of immunity: current perspectives and future strategies
Inborn errors of immunity (IEI) are caused by germline genetic mutations, resulting in defects of innate or acquired immunity. Hematopoietic cell...
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Antibody deficiencies in children are associated with prematurity and a family history of infections
BackgroundRecurrent respiratory tract infections (rRTIs) frequently affect young children and are associated with antibody deficiencies. We...
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Endoscopic and histopathological hints on infections in patients of common variable immunodeficiency disorder with gastrointestinal symptoms
Background and aimsCommon variable immunodeficiency disorder (CVID) patients may have gastrointestinal (GI) involvement and suffer from infections,...
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The pediatric common variable immunodeficiency — from genetics to therapy: a review
Common variable immunodeficiency (CVID) is the most prevalent antibody deficiency, characterized by remarkable genetic, immunological, and clinical...
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Flow cytometry optimizing the diagnostic approach in inborn errors of immunity: experience from Egypt
BackgroundHuman inborn errors of immunity (IEI) are a group of inherited genetic disorders of the immune system. IEI Patients suffer from severe...
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Neugeborenenscreening auf schweren kombinierten Immundefekt
A nationwide newborn screening (NBS) for severe combined immunodeficiency (SCID) has been carried out since August 2019 in Germany. SCID NBS is...
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Unresolved issues in allogeneic hematopoietic cell transplantation for non-malignant diseases
Allogeneic hematopoietic cell transplantation (HCT) can be curative for a variety of non-malignant diseases (NMDs) as well as hematological...
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Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene
BackgroundDCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in...
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Clinical features and predictors of osteoarticular manifestations in common variable immunodeficiency
IntroductionThis study aimed to assess osteoarticular manifestations in patients with common variable immunodeficiency (CIVD) and to identify the...
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Other Causes of Chronic Diarrhea in Children
Chronic diarrhea is still an important cause of morbidity and mortality in children. There are several causes of chronic diarrhea which may be due to...
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Immundefekte – neue Entwicklungen, die Kinderärzte kennen sollten
Infections and inflammatory diseases are among the most frequent reasons for visiting a pediatrician; however, they are also the typical...
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Diagnosing and Monitoring Celiac Patients with Selective IgA Deficiency: Still an Open Issue
Although, the association between celiac disease (CD) and selective immunoglobulin A deficiency (SIgAD) has been known for more than fifty years, the...
