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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...
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...
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...
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...
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...
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...
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...
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...
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Autosomal recessive CARD9 deficiency can underly deep and superficial fungal diseases. We identified two Japanese patients...