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Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Enterobacter cloacae, a Rare Cause of Cervical Lymphadenitis in X-Linked Chronic Granulomatous Disease
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USACooper PennerDivision of Immunology and Alle...
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, et al. Improving cellular therapy for primary immu...
A Case Report of Folliculin-Interacting Protein 1 Deficiency
A Case Report of Folliculin-Interacting Protein 1 Deficiency
Ethics Approval Genetic studies and data collection procedu...
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients
Granulomatous lymphocytic interstitial lung disease (GLILD) represents a fatal immune dysregulatory complication in common...
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
“The Regimental Pediatrician”: the Finnish Child Refugees and the Temporary Children’s Hospital
Publisher's NoteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional a...
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association
GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evo...
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
Centro Tettamanti, Fondazione IRCCS San Gerardo Dei Tintori, Monza, ItalyFrancesco Saettini, Grazia Fazio, Cristina Bugari...
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Respiratory Comorbidities Associated with Bronchiectasis in Patients with Common Variable Immunodeficiency in the USIDNET Registry
Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associa...
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodefi...
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
Evaluating Drug Prescription Patterns in Undiagnosed Common Variable Immunodeficiency Patients
To compare the consumption of antibiotics (AB), systemic steroids, and inhaled bronchodilators/glucocorticoids in the 3 ye...
Phenotypic Variability in PRKCD: a Review of the Literature
Phenotypic Variability in PRKCD: a Review of the Literature
Protein kinase C δ (PKCδ) deficiency is a rare genetic disorder identified as a monogenic cause of systemic lupu...
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry
Institute for Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyJessica Roja...
The Immune Status of Patients with 16p11.2 Deletion Syndrome
The Immune Status of Patients with 16p11.2 Deletion Syndrome
Ethics Approval This study was approved by the Colorado Multiple In...
Disseminated Histoplasmosis in a Brazilian Patient with G6PD Deficiency Caused by Class I Variant
Disseminated Histoplasmosis in a Brazilian Patient with G6PD Deficiency Caused by Class I Variant
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) supported Salgado RC (Grant # 130382/2020-5), and Con...
Tocilizumab as a Potential Adjunctive Therapy to Corticosteroids in Cryptococcal Post-infectious Inflammatory Response Syndrome (PIIRS): a Report of Two Cases
Tocilizumab as a Potential Adjunctive Therapy to Corticosteroids in Cryptococcal Post-infectious Inflammatory Response Syndrome (PIIRS): a Report of Two Cases
Non-HIV cryptococcal meningoencephalitis (CM) in previously healthy individuals is often complicated by a post-infectious ...
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome
Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome
Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammator...
“The Regimental Paediatrician”: the New Children’s Hospital
“The Regimental Paediatrician”: the New Children’s Hospital
Publisher's NoteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional a...
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
The MRE11-RAD50-NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. Pathogenic varia...
Novel ADA2 Variants in a Romanian Case Series of DADA2
Novel ADA2 Variants in a Romanian Case Series of DADA2
Ethics Approval This retrospective case series involving human part...
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...
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