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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...
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...
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...
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...
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...
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...
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 ...
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...
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 ...