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Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency
Characteristics and Outcomes of Anti-interferon Gamma Antibody-Associated Adult Onset Immunodeficiency
Anti-interferon gamma antibody (AIGA) is a rare cause of adult onset immunodeficiency, leading to severe disseminated oppo...
COVID-19 Adenoviral Vector Vaccination Elicits a Robust Memory B Cell Response with the Capacity to Recognize Omicron BA.2 and BA.5 Variants
COVID-19 Adenoviral Vector Vaccination Elicits a Robust Memory B Cell Response with the Capacity to Recognize Omicron BA.2 and BA.5 Variants
Following the COVID-19 pandemic, novel vaccines have successfully reduced severe disease and death. Despite eliciting lowe...
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings
Väliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linked agammaglobulinemia. Hum Mutat. 2006;27(12):120...
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome
Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne Universi...
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome
Ethics Approval Written informed consent to participate and...
Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency
Immunoglobulin Replacement Therapy During COVID-19 Pandemic: Practical and Psychological Impact in Patients with Antibody Deficiency
The COVID-19 pandemic has impacted on how health services deliver care and the mental health of the population. Due to the...
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis
Autosomal recessive tyrosine kinase 2 (TYK2) deficiency is characterized by susceptibility to mycobacterial and viral infe...
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection
Novel IFNGR1 Mutation in a Child with Mycobacterium avium Infection
Ethics Approval The study was approved by the Medical Ethics Commit...
APECED Rash as the First Manifestation of APECED Syndrome
APECED Rash as the First Manifestation of APECED Syndrome
This research was supported by the Division of Intramural Research of the National Institutes of Health, USA, and the Nati...
“The Regimental Pediatrician”: the Patients and the Work in the Early Years
“The Regimental Pediatrician”: the Patients and the Work in the Early Years
Publisher’s NoteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional a...
Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathways and Candidate Biomarkers
Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathways and Candidate Biomarkers
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by excessive activ...
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
Severe RAS-Associated Lymphoproliferative Disease Case with Increasing αβ Double-Negative T Cells with Atypical Features
Autoimmune lymphoproliferative syndrome (ALPS) is a disease of lymphocyte homeostasis caused by FAS-mediated apoptotic pat...
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
Early Diagnosis of Ataxia Telangiectasia Through Newborn Screening for SCID: a Case Report Highlighting the Dilemma of Pre-emptive HSCT
van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:...
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-threatening condition characterized b...
JAK Inhibition with Baricitinib for Severe CVID-Related Enteropathy: a Case Report
JAK Inhibition with Baricitinib for Severe CVID-Related Enteropathy: a Case Report
Ethical Approval Not applicable. ...
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers
X-linked chronic granulomatous disease (XL-CGD) is an inherited disorder of superoxide production, causing failure to gene...
Both Humoral and Cellular Immune Responses to SARS-CoV-2 Are Essential to Prevent Infection: a Prospective Study in a Working Vaccinated Population from Southern France
Both Humoral and Cellular Immune Responses to SARS-CoV-2 Are Essential to Prevent Infection: a Prospective Study in a Working Vaccinated Population from Southern France
COVID-19 vaccines have significantly decreased the number of severe cases of the disease, but the virus circulation remain...
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism
Chronic granulomatous disease (CGD) is a prototypical inborn error of immunity affecting phagocytes, in which these cells ...
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population
Major histocompatibility complex class II (MHC-II) deficiency is a rare inborn error of immunity (IEI). Impaired antigen p...
Haploidentical Stem Cell Transplantation with Post-transplantation Cyclophosphamide in High-Risk Chronic Granulomatous Disease Patient with Invasive Mucormycosis
Haploidentical Stem Cell Transplantation with Post-transplantation Cyclophosphamide in High-Risk Chronic Granulomatous Disease Patient with Invasive Mucormycosis
Lankester AC, Albert MH, Booth C, Gennery AR, Güngör T, Hönig T, et al. EBMT/ESID inborn errors working party guidelines f...
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity
A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity
Genetic variants in cell division cycle 42 (CDC42) can manifest with dysmorphic features, autoinflammation, hemophagocytic...
Correction to: Immunologic and Genetic Contributors to CD46‑Dependent Immune Dysregulation
Correction to: Immunologic and Genetic Contributors to CD46‑Dependent Immune Dysregulation
Immunodeficiency Laboratory, Department of Biomedicine, University Hospital Basel, Basel, SwitzerlandBenedikt J Meyer, Rob...
Correction to: Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globulin
Correction to: Screening for Antibody Deficiencies in Adults by Serum Electrophoresis and Calculated Globulin
Cite this articlede Toledo Piza, C.F.S., Aranda, C.S., Solé, D. et al. Correction to: Screening for Antibody Deficiencies ...
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis
Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis
To investigate computed tomography (CT) findings of Granulomatous Lymphocytic Interstitial Lung Disease (GL-ILD) in Common...
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency
Deficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic autoinflammatory disorder characterized by va...
Soluble Interleukin-2 Receptor/White Blood Cell Ratio Reflects Granulomatous Disease Progression in Common Variable Immune Deficiency
Soluble Interleukin-2 Receptor/White Blood Cell Ratio Reflects Granulomatous Disease Progression in Common Variable Immune Deficiency
Granulomatous disease occurs in at least 8–20% of patients with common variable immun...
Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement
Novel Functional Assay to Characterize Mutations in Alternative Pathway of Complement
Ethics Approval Written informed consent from parent/legal ...
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease
Novel Compound Heterozygous CYBA Mutations Causing Neonatal-Onset Chronic Granulomatous Disease
Ethics Approval This study was approved by the Medical Ethi...
Steroid-Responsive Pulmonary Hypertension in a Pediatric Patient with Chronic Granulomatous Disease and Histoplasmosis
Steroid-Responsive Pulmonary Hypertension in a Pediatric Patient with Chronic Granulomatous Disease and Histoplasmosis
Chronic granulomatous disease (CGD) is an inborn error of immunity characterized by d...
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency
Case of Fatal Meningitis in an Adult Patient with IRAK4 Deficiency
A female Caucasian patient, born to non-consanguineous parents, first presented at 1 ...
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