Charlotte Cunningham‐Rundles

Charlotte Cunningham‐Rundles


Prominent publications by Charlotte Cunningham‐Rundles

KOL Index score: 14909

BACKGROUND: Mutations in the gene coding for transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) have been identified in common variable immunodeficiency (CVID). Mutations coincided with immunodeficiency in families, suggesting dominant inheritance.

OBJECTIVE: Because most subjects with CVID have no immunodeficient family members and heterozygous mutations predominate, the role of TACI mutations in sporadic CVID is unclear.

METHODS: TACI was sequenced from ...

Known for Common Variable |  Transmembrane Activator |  Mutations Taci |  Ligand Interactor |  Subjects Cvid
KOL Index score: 13930

IMPORTANCE: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births.

OBJECTIVES: To present data from a spectrum ...

Known for United States |  Newborn Screening |  Infants Scid |  Severe Combined Immunodeficiency |  Cell Lymphopenia
KOL Index score: 13781

Common variable immunodeficiency (CVID) is characterized by low levels of immune globulins and lack of antibody. Mutations in transmembrane activator and calcium-modulating cyclophilin ligand (TACI), are found in 8-10%, associated with autoimmunity and splenomegaly. Some patients with mutations had increased serum levels of TACI. Because of this, and the prevalence of autoimmunity, splenomegaly, and lymphadenopathy, we quantitated levels of TACI ligands, a proliferation inducing ligand ...

Known for Serum Levels |  Common Variable |  Baff Taci |  Cvid Subjects |  Transmembrane Activator
KOL Index score: 13160

BACKGROUND: Natural killer (NK) cells are critical innate effector cells whose development is dependent on the Janus kinase-signal transducer and activator of transcription (STAT) pathway. NK cell deficiency can result in severe or refractory viral infections. Patients with STAT1 gain-of-function (GOF) mutations have increased viral susceptibility.

OBJECTIVE: We sought to investigate NK cell function in patients with STAT1 GOF mutations.

METHODS: NK cell phenotype and function were ...

Known for Stat1 Gof |  Signal Transducer |  Natural Killer |  Nk Cells |  Patients Function
KOL Index score: 12944

BACKGROUND: Mutations in the gene coding for the transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) are found in 8% to 10% of subjects with common variable immunodeficiency (CVID). Although heterozygous mutations may coincide with immunodeficiency in a few families, most mutation-bearing relatives are not hypogammaglobulinemic. Thus, the role of TACI mutations in producing the immune defect remains unclear.

OBJECTIVE: This study examined the expression ...

Known for Taci Mutations |  Cell Function |  Immunodeficiency Cvid |  Toll Receptor |  Common Variable
KOL Index score: 12848

BACKGROUND: Bruton tyrosine kinase (BTK) is a component of signaling pathways downstream from Toll-like receptors (TLRs) 2, 4, 7, 8, and 9. Previous work in BTK-deficient mice, cell lines, and cultured cells from patients with X-linked agammaglobulinemia (XLA) suggested defective TLR-driven cytokine production.

OBJECTIVE: We sought to compare TLR-4-, TLR-7-, and TLR-8-induced cytokine production of primary cells from patients with XLA with that seen in control cells.

METHODS: PBMCs from ...

Known for Patients Xla |  Linked Agammaglobulinemia |  Myeloid Cells |  Inflammatory Cytokines |  Receptor 4
KOL Index score: 12703

PurposeTo describe the process and assess outcomes for the first 2 years of newborn screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS).MethodsThe NYS algorithm utilizes a first-tier molecular screen for TRECs (T-cell receptor excision circles), the absence of which is indicative of increased risk of immunodeficiency.ResultsDuring the first 2 years, 485,912 infants were screened for SCID. Repeat specimens were requested from 561 premature and 746 ...

Known for Newborn Screening |  Infants Scid |  New York State |  2 Years |  Severe Combined Immunodeficiency
KOL Index score: 11732

BACKGROUND: Common variable immunodeficiency (CVID) is a primary immune disorder characterized by antibody deficiency and a decrease in serum IgG and IgA, IgM, or both levels at least 2 SDs below the mean for age and not attributed to other known immunologic disorders. These patients often present with frequent and severe episodes of pneumonia before diagnosis. The standard treatment, intravenous immunoglobulin (IVIG), has been available for the past 20 years. No large-scale study has ...

Known for Intravenous Immunoglobulin |  Pneumonia Patients |  Common Variable Immunodeficiency |  Treatment Cvid |  20 Years
KOL Index score: 11547

PurposeAutoimmune cytopenia is frequently a presenting manifestation of common variable immune deficiency (CVID). Studies characterizing the CVID phenotype associated with autoimmune cytopenias have mostly been limited to large referral centers. Here, we report prevalence of autoimmune cytopenias in CVID from the USIDNET Registry and compare the demographics and clinical features of patients with and without this complication.MethodsInvestigators obtained demographic, laboratory, and ...

Known for Autoimmune Cytopenias |  Cvid Patients |  Hemolytic Anemia |  Immune Thrombocytopenia |  Presenting Manifestation
KOL Index score: 11522

BAFF and APRIL are innate immune mediators that trigger immunoglobulin G (IgG) and IgA class-switch recombination (CSR) in B cells by engaging the receptor TACI. The mechanism that underlies CSR signaling by TACI remains unknown. Here we found that the cytoplasmic domain of TACI encompasses a conserved motif that bound MyD88, an adaptor that activates transcription factor NF-kappaB signaling pathways via a Toll-interleukin 1 (IL-1) receptor (TIR) domain. TACI lacks a TIR domain, yet ...

Known for Adaptor Protein |  Immunoglobulin Class |  Taci Csr |  Tir Domain |  Lymphocytes Cells
KOL Index score: 10792

BACKGROUND: Hyper-IgE syndrome (HIE) and chronic granulomatous disease (CGD) are congenital immunodeficiency diseases with increased susceptibility to bacterial and fungal infections. Both carry significant morbidity and mortality rates because of invasive infections by Aspergillus species. We encountered 2 patients, one with HIE and one with CGD, in whom detection of sensitization to Aspergillus species preceded the diagnosis of immunodeficiency. With high-dose systemic corticosteroids ...

Known for Aspergillus Species |  Granulomatous Disease |  Abpa Patients |  Ige Syndrome |  Chronic Humans Immunity
KOL Index score: 10696

BACKGROUND: Good syndrome is a rare cause of combined B- and T-cell immunodeficiency that occurs in association with a thymoma. Patients affected with Good syndrome have increased susceptibility to bacterial, fungal, viral, and opportunistic infections.

OBJECTIVE: To describe 2 unusual cases of infections in patients with Good syndrome and review the literature.

METHODS: Case 1 describes a 51-year-old woman with Good syndrome who presented with a 10-day history of diarrhea, nausea, and ...

Known for Thymoma Patients |  Immunodeficiency Syndrome |  Bone Marrow Biopsy |  Agammaglobulinemia Aged |  Lymphocytes Cd4
KOL Index score: 10634

BACKGROUND: Heterozygous deleterious mutations in the gene encoding the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B), or transmembrane activator and CAML interactor (TACI), have been associated with the development of common variable immunodeficiency. Smith-Magenis syndrome (SMS) is a genetic disorder characterized by developmental delay, behavioral disturbances, craniofacial anomalies, and recurrent respiratory tract infections. Eighty percent of subjects have a ...

Known for Sms Patients |  Transmembrane Activator |  Caml Interactor |  Magenis Syndrome |  Taci Haploinsufficiency
KOL Index score: 10427

BACKGROUND: We previously developed GoMiner, an application that organizes lists of 'interesting' genes (for example, under-and overexpressed genes from a microarray experiment) for biological interpretation in the context of the Gene Ontology. The original version of GoMiner was oriented toward visualization and interpretation of the results from a single microarray (or other high-throughput experimental platform), using a graphical user interface. Although that version can be used to ...

Known for Gene Ontology |  Microarray Experiment |  Common Variable |  Throughput Gominer |  Biological Interpretation
KOL Index score: 10301

Hyper-IgM (HIGM) syndromes are primary immunodeficiencies characterized by defects of class switch recombination and somatic hypermutation. HIGM patients who carry mutations in the CD40-ligand (CD40L) gene expressed by CD4(+) T cells suffer from recurrent infections and often develop autoimmune disorders. To investigate the impact of CD40L-CD40 interactions on human B cell tolerance, we tested by ELISA the reactivity of recombinant antibodies isolated from single B cells from three ...

Known for Cell Tolerance |  Mhc Class |  Cd40 Ligand |  Autoreactive Antibodies |  Higm Patients


Charlotte Cunningham‐Rundles: Influence Statistics

Sample of concepts for which Charlotte Cunningham‐Rundles is among the top experts in the world.
Concept World rank
irradiated cvid cells #1
granulomas 54 #1
peripheral bcells #1
noninfectious complications cvidc #1
tlr7stimulated pbmcs #1
taci tacis #1
infectious arthritides #1
detection antiiga antibodies #1
human cells tacis #1
igrt therapy patients #1
reduced igg values #1
loss ifnα #1
cvi cells differences #1
autoimmunity splenomegaly #1
common findings lymphoma #1
taci autoimmunity #1
adolescent autoantibodies autoantigens #1
cells cvid subjects #1
carimune nf #1
immunity usidnet registry #1
frequency rheumatologic conditions #1
members immune defect #1
commensal bacteria engagement #1
taci tlr9 #1
lymphoproliferative disease cvid #1
cvid sequence analysis #1
infusions 170 infusions #1
criteria clinical phenotyping #1
data splenectomy #1
treatment hypogammaglobulinemia #1
conditions cvid cvid #1
noninfectious complications autoimmunity #1
hie stat6 activation #1
aha itp #1
tacis intracellular compartment #1
tertiary lymphoneogenesis #1
recurrent unusual infections #1
cvid anemia #1
pad igg levels #1
cvid irt #1
iei dlbcls #1
cvid cell survival #1
thc taci #1
overview genetic defects #1
diagnoses immunodeficiency #1
ikaros ikaros nterminal #1
cells relatives #1
states immune #1
bronchiectasis cd4 #1
aiha ivgg #1

Key People For Common Variable Immunodeficiency

Top KOLs in the world
Charlotte Cunningham‐Rundles
common variable immunodeficiency usidnet registry iga deficiency
Lennart LG Hammarström
iga deficiency myasthenia gravis newborn screening
Helen M Chapel
intravenous immunoglobulin common variable antibody deficiency
A David B Webster
common variable immunodeficiency primary hypogammaglobulinaemia cells patients
Klaus Warnatz
common variable immunodeficiency cvid patients immune dysregulation
Bodo Grimbacher
common variable immunodeficiency cvid patients antibody deficiency
Select a search phrase   common variable immunodeficiency

Charlotte Cunningham‐Rundles:Expert Impact

Concepts for whichCharlotte Cunningham‐Rundleshas direct influence:Common variable immunodeficiency,  Common variable,  Usidnet registry,  Variable immunodeficiency,  Iga deficiency,  Primary immunodeficiency,  International union,  Immune complexes.

Charlotte Cunningham‐Rundles:KOL impact

Concepts related to the work of other authors for whichfor which Charlotte Cunningham‐Rundles has influence:Common variable immunodeficiency,  Chronic fatigue syndrome,  Intravenous immunoglobulin,  Primary immunodeficiencies,  Inborn errors,  Autoimmune diseases,  Cvid patients.



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Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States | Mt. Sinai Medical Center | Departments of Medicine and Pediatrics, Division of Allergy and Clinical Immunology, Icahn School of Medicine at Mount Sinai, Ne

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