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Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
Epstein-Barr virus (EBV) infection can lead to infectious mononucleosis (EBV-IM) and, more rarely, EBV-associated hemophag...
Mendelian Causes of Autoimmunity: the Lupus Phenotype
Mendelian Causes of Autoimmunity: the Lupus Phenotype
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in ter...
Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center
Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center
Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. This study was co...
Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity
Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity
Autoimmunity is a significant feature of APDS1 patients. We aimed to explore the pathogenic immune phenotype and possible ...
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX
Authors and AffiliationsPediatric Hematology, Oncology and Stem Cell Transplant Division, University Hospital of Padova, P...
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Biallelic null or hypomorphic variants in JAK3 cause SCID and less frequently Omenn syndrome. We investigated homozygous h...
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine
Ethics Approval The Research Ethics Board of the Research I...
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform
The interleukin-7 receptor (IL-7R) is primarily expressed on lymphoid cells and plays a crucial role in the development, p...
Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report
Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report
The monozygotic twins were diagnosed with the cHL (mixed cellularity) at three and nine years of age. Twin 1 and twin 2 de...
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect
Ethical Approval This study was performed in line with the ...
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers
Conflict of Interest All authors declare that this research...
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib
The signal transducer and activator of transcription (STAT1) gain-of-function (GOF) syndrome accounts for most cases of ch...
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunologic...
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Newborn screening (NBS) for severe inborn errors of immunity (IEI), affecting T lymphocytes, and implementing measurements...
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF
Patients with STAT1 gain-of-function (GOF) mutations often exhibit autoimmune features. The JAK1/2 inhibitor ruxolitinib c...
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about...
A deep intronic BTK variant underlies X-linked agammaglobulinemia
A deep intronic BTK variant underlies X-linked agammaglobulinemia
The authors thank the patient and his parents for participating in this study. We thank all of our colleagues in the Depar...
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
The ubiquitin–proteasome system (UPS) has a critical role in post-translational protein modification that is essenti...
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
We present a case study of a young male with a history of 22q11.2 deletion syndrome (22qDS), diagnosed with systemic capil...
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
The authors gratefully acknowledge the contributions and enthusiasm of the patients. We also want to recognize the many st...
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis
Myocarditis can be caused by viral infection, drug reaction or general inflammatory condition. To provide understanding on...
Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai
Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai
We sought to explore the prevalence of type I interferon-neutralizing antibodies in a Chinese cohort and its clinical impl...
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Congenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplan...
Involvement of IL-17 A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease
Involvement of IL-17 A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease
To assess the role of the interleukin (IL)-17 A/IL-17 receptor A (IL-17RA) in Kawasaki disease (KD)-related coron...
The Complexity of Being A20: From Biological Functions to Genetic Associations
The Complexity of Being A20: From Biological Functions to Genetic Associations
A20, encoded by TNFAIP3, is a critical negative regulator of immune activation. A20 is a ubiquitin editing enzyme with mul...
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation
The Nuclear Factors of Activated T cells (NFATs) family of transcription factors comp...
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis
Major histocompatibility complex (MHC) class II deficiency is one of the combined immune deficiency disorders caused by de...
Psychosocial Evaluation of Adults with Primary Immunodeficiency
Psychosocial Evaluation of Adults with Primary Immunodeficiency
Primary immunodeficiency disorder (PID) is a heterogeneous group of diseases characterized by immune dysregulation and inc...
Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade
Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade
This work was supported by the National Natural Science Foundation of China (82020108003), National Natural Science Founda...
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease
Congenital heart disease (CHD) is the most common birth defect, and up to 50% of infants with CHD require cardiovascular s...
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