SCI时时刷

search
+
Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation
Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation
Consortium “Rubella consortium” members:Eeva Martelin1, Vesa Lindström1, Jouni Heiskanen1, Terttu Harju2, Airi Jartti3, Pä...
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
Inborn errors of immunity (IEIs) encompass various diseases with diverse clinical and immunological symptoms. Determining ...
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans
Autoantibodies Neutralizing GM-CSF in HIV-Negative Colombian Patients Infected with Cryptococcus gattii and C. neoformans
Cryptococcosis is a life-threatening disease caused by Cryptococcus neoformans or C. gattii. Neutralizing autoantibodies (...
Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein–Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms
Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We des...
Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors
Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors
A boy with primary immunodeficiency, caused by a tyrosine kinase 2 (TYK2) mutation, presented with immune defects and a li...
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum
HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum
Magnesium transporter 1 (MAGT1) gene loss-of-function variants lead to X-linked MAGT1 deficiency with increased susceptibi...
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency
Patients with chromosome 18q deletion syndrome generally experience hypogammaglobulinemia. Herein, we describe two patient...
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants
Tolerability and Safety of Large-Volume Hyaluronidase-Facilitated Subcutaneous Immunoglobulin 10% Administered with or without Dose Ramp-Up: A Phase 1 Study in Healthy Participants
Facilitated subcutaneous immunoglobulin (fSCIG; immune globulin infusion 10% [human] with recombinant human hyaluronidase ...
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity
A cell’s ability to survive and to evade cancer is contingent on its ability to retain genomic integrity, which can ...
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy
Effective Management of XLA Associated Enteropathy with Vedolizumab Monotherapy
Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE. Gastrointesti...
An Immature NK Cell Compartment in Functional DBF4 Deficiency
An Immature NK Cell Compartment in Functional DBF4 Deficiency
Willemsen M, Staels F, Gerbaux M, Neumann J, Schrijvers R, Meyts I, Humblet-Baron S, et al. DNA replication-associated inb...
Lower Humoral and Cellular Immunity Following Asymptomatic SARS-CoV-2 Infection Compared to Symptomatic Infection in Education (The ACE Cohort)
Lower Humoral and Cellular Immunity Following Asymptomatic SARS-CoV-2 Infection Compared to Symptomatic Infection in Education (The ACE Cohort)
Asymptomatic SARS-CoV-2 infections were widely reported during the COVID-19 pandemic, acting as a hidden source of infecti...
An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression
An Exploratory Approach of Clinically Useful Biomarkers of Cvid by Logistic Regression
Despite advancements in genetic and functional studies, the timely diagnosis of common variable immunodeficiency (CVID) re...
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion
Disseminated BCG Disease in a Child with a Novel PSMG2 Deletion
The authors would like to thank the patient and his family for their participation. We thank to project PAMPA (Programa Ar...
Evaluation of Frequency of CMV Replication and Disease Complications Reveals New Cellular Defects and a Time Dependent Pattern in CVID Patients
Evaluation of Frequency of CMV Replication and Disease Complications Reveals New Cellular Defects and a Time Dependent Pattern in CVID Patients
Common Variable Immunodeficiency (CVID) is characterized by hypogammaglobulinemia and failure of specific antibody product...
Unconventional T Cells Influence Clinical Outcome After Allogeneic Hematopoietic Cell Transplantation
Unconventional T Cells Influence Clinical Outcome After Allogeneic Hematopoietic Cell Transplantation
We evaluated the impact of early recovery of mucosal-associated invariant T cells (MAIT) and gamma-delta (γδ) T ...
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution
Inborn Errors of Immunity (IEI) comprise several genetic anomalies that affect different components of the innate and adap...
Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19
Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19
The pre BCR complex plays a crucial role in B cell production, and its successful expression marks the B cell differentiat...
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation
We acknowledge patients and their families and the nurse staff of our Pediatric Oncology/Hematology division for their val...
Correction to: Monozygotic Twins with MAGT1 Deficiency and Epstein-Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report
Correction to: Monozygotic Twins with MAGT1 Deficiency and Epstein-Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections
NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections
Fusco F, Paciolla M, Conte MI, Pescatore A, Esposito E, Mirabelli P, et al. Incontinentia pigmenti: report on data from 20...
Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients
Altered Genome-Wide DNA Methylation in the Duodenum of Common Variable Immunodeficiency Patients
A large proportion of Common variable immunodeficiency (CVID) patients has duodenal inflammation with increased intraepith...
Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity
Allogeneic Hematopoietic cell Transplantation Using Alemtuzumab in Asian Patients with Inborn Errors of Immunity
Alemtuzumab is used with reduced-toxicity conditioning (RTC) in allogeneic hematopoietic cell transplantation (HCT), demon...
Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
Dysregulation of the immune system in individuals with Down syndrome is thought to play a major role in the pathophysiolog...
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies
We described the diagnosis and treatment of a patient with autoinflammatory disease, named “Deficiency in ELF4, X-li...
AIOLOS-Associated Inborn Errors of Immunity
AIOLOS-Associated Inborn Errors of Immunity
AIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor family and plays a pivotal role ...
A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections
A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections
RHOH, an atypical small GTPase predominantly expressed in hematopoietic cells, plays a vital role in immune function. A de...
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency
Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency
Conflict of interest/Competing interests. The authors decla...
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations
Mutations in genes of the DNA polymerase complex have been linked to impaired immunological function next to distinct synd...
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report
Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder characterized by impaired phagocytic function, lea...
阅读更多
format_indent_increase