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"A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?

artículo científico

"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.

artículo científico publicado en 2018

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

artículo científico

A Pathogenic Missense Variant in <i>NFKB1</i> Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage

artículo científico publicado en 2021

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

artículo científico publicado en 2017

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.

artículo científico publicado en 2014

A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS

artículo científico publicado en 2021

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

artículo científico publicado en 2009

A novel LRBA mutation presents with normal CTLA-4 and overactive Th17 immunity

artículo científico publicado en 2018

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

artículo científico publicado en 2006

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1)

artículo científico publicado en 2019

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

A syndrome with congenital neutropenia and mutations in G6PC3

artículo científico publicado en 2009

Activity, severity and impact of respiratory disease in primary antibody deficiency syndromes

artículo científico publicado en 2013

Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea

artículo científico publicado en 2020

An antibody-deficiency syndrome due to mutations in the CD19 gene

artículo científico publicado en 2006

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

artículo científico publicado en 2014

An update on the hyper-IgE syndromes ⬇️

artículo científico publicado el 30 de noviembre de 2012

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q

artículo científico publicado en 2005

Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy

artículo científico publicado en 2006

Assessing the Functional Relevance of Variants in the () in a Cohort of Patients With Primary Immunodeficiency ⬇️

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells

artículo científico publicado en 2015

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype

artículo científico publicado en 2015

Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies?

artículo científico publicado en 2017

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

artículo científico publicado en 2015

Autoimmunity and primary immunodeficiency: two sides of the same coin?

artículo científico publicado en 2017

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

artículo científico publicado en 2014

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

artículo científico publicado en 2004

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

scholarly article

B-cell biology and development ⬇️

artículo científico publicado el 5 de marzo de 2013

Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effect

scientific article published on 16 July 2020

CTLA-4 regulates human Natural Killer cell effector functions

article

CVID-associated TACI mutations affect autoreactive B cell selection and activation

artículo científico publicado en 2013

Cancer Tendency in a Patient with ZNF341 Deficiency

scientific article published on 24 January 2020

Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES)

artículo científico publicado en 2012

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X).

artículo científico publicado en 2015

Chronic mucocutaneous candidiasis and congenital susceptibility to Candida ⬇️

artículo científico publicado el 1 de diciembre de 2010

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in

artículo científico publicado en 2019

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation

artículo científico publicado en 2012

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

artículo científico publicado en 2014

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

artículo científico publicado en 2016

Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait

artículo científico publicado en 2012

Common variable immunodeficiency disorders: division into distinct clinical phenotypes

artículo científico publicado en 2008

Common variable immunodeficiency in children

artículo científico publicado en 2007

Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer T cells.

artículo científico publicado en 2014

Common variable immunodeficiency: The power of co-stimulation.

artículo científico publicado en 2006

Common variable immunodeficiency: an update on etiology and management

artículo científico publicado en 2008

Community acquired Staphylococcus aureus meningitis and cerebral abscesses in a patient with a Hyper-IgE and a Dubowitz-like syndrome ⬇️

artículo científico publicado el 19 de agosto de 2011

Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

artículo científico publicado en 2019

Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Corrigendum: Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency

scientific article published on 28 June 2019

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

artículo científico publicado en 2015

DOCK8 deficiency in six Iranian patients

artículo científico publicado en 2016

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

artículo científico publicado en 2015

Deconstructing common variable immunodeficiency by genetic analysis

artículo científico publicado en 2007

Deep dermatophytosis and inherited CARD9 deficiency

artículo científico publicado en 2013

Defective TLR9-driven STAT3 activation in B cells of patients with CVID

artículo científico publicado en 2018

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency

artículo científico publicado en 2016

Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

artículo científico publicado en 2008

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

artículo científico publicado en 2013

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

artículo científico publicado en 2012

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity

artículo científico publicado en 2012

Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency

artículo científico publicado en 2021

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. ⬇️

artículo científico publicado en 2018

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

scientific article published on 23 November 2019

Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency

artículo científico publicado en 2016

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

artículo científico publicado en 2020

Dynamics in protein translation sustaining T cell preparedness

artículo científico publicado en 2020

Efficacy and safety of hizentra®, a new 20% immunoglobulin preparation for subcutaneous administration, in pediatric patients with primary immunodeficiency

artículo científico publicado en 2011

Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry

scientific article published on 07 October 2020

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

artículo científico publicado en 2021

Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency

scientific article published on 17 April 2019

Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease

artículo científico publicado en 2014

Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

artículo científico publicado en 2012

FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency

artículo científico publicado en 2019

Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.

artículo científico publicado en 2014

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

artículo científico publicado en 2021

Genetic CD21 deficiency is associated with hypogammaglobulinemia

artículo científico publicado en 2011

Glucagon like peptide-2 for Intestinal stem cell and Paneth cell repair during graft-versus-host disease in mice and humans

artículo científico publicado en 2020

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

artículo científico publicado en 2007

HED

scholarly article

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

artículo científico publicado en 2015

Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment

artículo científico publicado en 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

artículo científico publicado en 2016

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency

artículo científico publicado en 2003

Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency

artículo científico publicado en 2005

Human NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase

artículo científico publicado en 2017

Hyper-IgE syndromes

artículo científico publicado en 2005

Hyper-IgE syndromes: reviewing PGM3 deficiency

artículo científico publicado en 2014

Hypogammaglobulinaemia

artículo científico publicado en 2008

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

artículo científico publicado en 2018

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

artículo científico publicado en 2014

ICOS deficiency in patients with common variable immunodeficiency.

artículo científico publicado en 2004

ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells

artículo científico publicado en 2006

IL-10 and IL-10 receptor defects in humans.

artículo científico publicado en 2011

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

artículo científico publicado en 2006

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

scientific article published on 13 December 2018

Immunological phenotype of the murine Lrba knockout

artículo científico publicado en 2017

Important Factors Influencing Severity of Common Variable Immunodeficiency

artículo científico publicado en 2016

Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie

scientific article published on 26 May 2020

Increased Risk for Malignancies in 131 Affected Mutation Carriers

artículo científico publicado en 2018

Infant colitis—it's in the genes

artículo científico publicado en 2010

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

artículo científico publicado en 2009

Inflammatory bowel disease: is it a primary immunodeficiency? ⬇️

artículo científico publicado el 14 de octubre de 2011

Interdisciplinary approach towards a systems medicine toolbox using the example of inflammatory diseases

artículo científico publicado en 2016

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

artículo científico publicado en 2009

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q.

artículo científico publicado en 2006

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

scientific article published on 27 December 2019

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency

artículo científico publicado en 2014

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy

artículo científico publicado en 2012

Lung disease in primary antibody deficiency

artículo científico publicado en 2015

Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics

artículo científico publicado en 2008

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects ⬇️

artículo científico publicado el 1 de febrero de 2012

Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation?

artículo científico publicado en 2006

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

artículo científico publicado en 2015

Mucosal antifungal defence: IL‐17 signalling takes centre stage ⬇️

artículo científico publicado el 17 de mayo de 2011

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

artículo científico publicado en 2015

Mutational analysis of human BLyS in patients with common variable immunodeficiency

scientific article published on 01 June 2006

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

artículo científico publicado en 2010

NFKB1 regulates human NK cell maturation and effector functions

artículo científico publicado en 2016

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

artículo científico publicado en 2012

Non permissive bone marrow environment impairs early B-cell development in common variable immunodeficiency

artículo científico publicado en 2020

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

artículo científico publicado en 2008

Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family

scientific article published on 26 May 2018

Nuclear factor κB mutations in human subjects: The devil is in the details

scientific article published on 28 August 2018

Outcome of allogeneic stem cell transplantation in adults with common variable immunodeficiency

artículo científico publicado en 2011

Pathogen-specific IgG antibody levels in immunodeficient patients receiving immunoglobulin replacement do not provide additional benefit to therapeutic management over total serum IgG

scientific article published on 03 March 2011

Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

artículo científico publicado en 2015

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

artículo científico publicado en 2022

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

artículo científico publicado en 2018

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).

artículo científico publicado en 2017

Primary immunodeficiency registries

artículo científico publicado en 2007

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.

artículo científico publicado en 2018

Reduced Bone Density in Patients with Autosomal Dominant Hyper-IgE Syndrome ⬇️

artículo científico publicado el 19 de abril de 2013

Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency

artículo científico publicado en 2007

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

artículo científico publicado en 2008

Reply: To PMID 24582167.

artículo científico publicado en 2014

Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient

artículo científico publicado en 2017

Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

artículo científico publicado en 2017

STAT3 mutations in the hyper-IgE syndrome

artículo científico publicado en 2007

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood

artículo científico publicado en 2017

Screening of functional and positional candidate genes in families with common variable immunodeficiency

artículo científico publicado en 2008

Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus

artículo científico publicado en 2007

Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency

artículo científico publicado en 2008

Serum trough IgG level and annual intravenous immunoglobulin dose are not related to body size in patients on regular replacement therapy.

artículo científico publicado en 2011

Signaling mechanisms inducing hyporesponsiveness of phagocytes during systemic inflammation

scientific article published on 10 May 2019

Soluble BAFF levels inversely correlate with peripheral B cell numbers and the expression of BAFF receptors

artículo científico publicado en 2012

Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.

artículo científico publicado en 2014

Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency Disorders

scientific article published on 16 December 2019

Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency

artículo científico publicado en 2015

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency

artículo científico publicado en 2015

TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency

artículo científico publicado en 2005

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

artículo científico publicado en 2017

Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus

artículo científico publicado en 2014

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

artículo científico publicado en 2019

The German National Registry of Primary Immunodeficiencies (2012-2017)

artículo científico publicado en 2019

The TH1 phenotype of follicular helper T cells indicates an IFN-γ-associated immune dysregulation in patients with CD21low common variable immunodeficiency.

artículo científico publicado en 2017

The architecture of the IgG anti-carbohydrate repertoire in primary antibody deficiencies

scientific article published on 01 November 2019

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

artículo científico publicado en 2018

The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects.

artículo científico publicado en 2016

The diagnosis of hyper immunoglobulin e syndrome based on project management

artículo científico publicado en 2015

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

artículo científico publicado en 2015

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

artículo científico publicado en 2016

The genetics of hypogammaglobulinemia

artículo científico publicado en 2004

The hyper IgE syndrome and mutations in TYK2

artículo científico publicado en 2007

The hyper-IgE syndrome is not caused by a microdeletion syndrome

artículo científico publicado en 2007

The immunological synapse for B-cell memory: the role of the ICOS and its ligand for the longevity of humoral immunity ⬇️

artículo científico publicado el 1 de diciembre de 2003

The phenotype of human STK4 deficiency

artículo científico publicado en 2012

The role of ICOS in directing T cell responses: ICOS-dependent induction of T cell anergy by tolerogenic dendritic cells

artículo científico publicado en 2009

The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency.

artículo científico publicado en 2009

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

artículo científico publicado en 2010

The use of databases in primary immunodeficiencies

artículo científico

Therapeutic Management of Primary Immunodeficiency in Older Patients ⬇️

artículo científico publicado el 1 de julio de 2013

To switch or not to switch--the opposing roles of TACI in terminal B cell differentiation

artículo científico publicado en 2007

Toll-Like Receptor Stimulation Induces Higher TNF-α Secretion in Peripheral Blood Mononuclear Cells from Patients with Hyper IgE Syndrome

artículo científico publicado en 2008

Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes

artículo científico publicado en 2007

Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency

artículo científico publicado en 2017

Treatment of Progressive Multifocal Leukoencephalopathy with Pembrolizumab

scientific article published on 10 April 2019

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

artículo científico publicado en 2017

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

artículo científico publicado en 2016

Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis

artículo científico publicado en 2016

What did we learn from CTLA-4 insufficiency on the human immune system?

artículo científico publicado en 2019

ZNF341 controls STAT3 expression and thereby immunocompetence

scientific article published on 01 June 2018

[The ESID Online Database for primary immunodeficiencies. First analyses with regard to Germany and Europe]

artículo científico publicado en 2008

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