Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Vav1 Haploinsufficiency in a Common Variable Immunodeficiency Patient with Defective T-Cell Function

(2017) N. Capitani et al.   INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY

De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

(2016) Michaela Kuhlen et al.   CLINICAL IMMUNOLOGY

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   HUMAN GENETICS

Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network

(2016) Vicki Modell et al.   IMMUNOLOGIC RESEARCH

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

(2016) Laura Gámez-Díaz et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a HomozygousLRBAMutation

(2016) Felix Schreiner et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

(2016) Hye Sun Kuehn et al.   NEW ENGLAND JOURNAL OF MEDICINE

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

(2016) Francisco A. Bonilla et al.   Journal of Allergy and Clinical Immunology-In Practice

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

(2015) Manfred Fliegauf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association of B-cell activating factor receptor deficiency with the P21R polymorphism and common variable immunodeficiency

(2015) Matthew Germinaro et al.   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency

(2015) M. Elgizouli et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities

(2015) Marjolein W.J. Wentink et al.   CLINICAL IMMUNOLOGY

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation

(2015) Shoshana Revel-Vilk et al.   CLINICAL IMMUNOLOGY

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

(2015) Pauline A. van Schouwenburg et al.   CLINICAL IMMUNOLOGY

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

(2015) B. Erman et al.   HAEMATOLOGICA

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

(2015) Timo Volk et al.   HUMAN MOLECULAR GENETICS

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

(2015) Kim De Leeneer et al.   HUMAN MUTATION

Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype

(2015) Nina Kathrin Serwas et al.   INFLAMMATORY BOWEL DISEASES

Genetics of common variable immunodeficiency: role of transmembrane activator and calcium modulator and cyclophilin ligand interactor

(2015) H. D. Sathkumara et al.   International Journal of Immunogenetics

A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens

(2015) Janet Chou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

(2015) Omar K. Alkhairy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

(2015) Louis-Marie Charbonnier et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2015) Markus G. Seidel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

(2015) Omar K. Alkhairy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease

(2015) Vassilios Lougaris et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

(2015) Nic Robertson et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies

(2015) Vassilios Lougaris et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A mutation in the human tetraspanin CD81 gene is expressed as a truncated protein but does not enable CD19 maturation and cell surface expression

(2015) Felipe Vences-Catalán et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

(2015) Ayca Kiykim et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Spectrum of Phenotypes Associated with Mutations in LRBA

(2015) Omar K. Alkhairy et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

(2015) Sinan Sari et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer

(2015) Seiichi Hayakawa et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

(2015) B. Lo et al.   SCIENCE

Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition

(2015) Virginia C. Rodríguez-Cortez et al.   Nature Communications

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

(2015) Jin Li et al.   Nature Communications

Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help

(2015) Ewoud B. Compeer et al.   Oncotarget

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R

(2015) B. Erman et al.   HAEMATOLOGICA

Effect of TACI Signaling on Humoral Immunity and Autoimmune Diseases

(2015) Yi Zhang et al.   Journal of Immunology Research

The Incidence and Prevalence of Common Variable Immunodeficiency Disease in Taiwan, A Population-Based Study

(2015) Chih-Wei Tseng et al.   PLoS One

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

(2014) C. E. Lee et al.   BLOOD

Mutations in NFKB2and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

(2014) Thierry Brue et al.   BMC Medical Genetics

A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling

(2014) Thijs W.H. Flinsenberg et al.   CLINICAL IMMUNOLOGY

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

(2014) Stephan Borte et al.   CLINICAL IMMUNOLOGY

Human IL-21 and IL-21R deficiencies

(2014) Daniel Kotlarz et al.   CURRENT OPINION IN PEDIATRICS

The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant

(2014) Emanuele Bellacchio et al.   GENE

Early-onset Crohn’s disease and autoimmunity associated with a variant in CTLA-4

(2014) Sebastian Zeissig et al.   GUT

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency

(2014) P. Stepensky et al.   HAEMATOLOGICA

Consanguinity and Polygenic Diseases: A Model for Antibody Deficiencies

(2014) Valentina Di Pierro et al.   HUMAN HEREDITY

Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency

(2014) Janet Chou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

(2014) Elisabeth Salzer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation

(2014) Menno C. van Zelm et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2014) Kathrin Pieper et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A hypomorphic recombination-activating gene 1 ( RAG1 ) mutation resulting in a phenotype resembling common variable immunodeficiency

(2014) Hassan Abolhassani et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome

(2014) Sven Kracker et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel NFKB2 Mutation in Early-Onset CVID

(2014) Yiwen Liu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

(2014) David Buchbinder et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

(2014) Andrew W. Lindsley et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

(2014) Heather N. Hartman et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

(2014) M. C. Crank et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

(2014) Carrie L. Lucas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

(2013) Karin Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation

(2013) Alexandre Belot et al.   ARTHRITIS AND RHEUMATISM

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C  

(2013) E. Salzer et al.   BLOOD

Loss-of-function of the protein kinase C   (PKC ) causes a B-cell lymphoproliferative syndrome in humans

(2013) H. S. Kuehn et al.   BLOOD

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

(2013) Neil Romberg et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

(2013) Daniel Kotlarz et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK

(2013) H.-Y. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

(2012) Qing Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Naturally occurring mutation affecting the MyD88-binding site ofTNFRSF13Bimpairs triggering of class switch recombination

(2012) Maria B. Almejun et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Genome-wide association study identifies common variants at TNFRSF13B associated with IgG level in a healthy Chinese male population

(2012) M Liao et al.   GENES AND IMMUNITY

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

(2012) E. Salzer et al.   HAEMATOLOGICA

A novel compound heterozygous TACI mutation in an autosomal recessive common variable immunodeficiency (CVID) family

(2012) V. Lougaris et al.   HUMAN IMMUNOLOGY

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

(2012) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

(2012) Abdullah Alangari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes

(2012) Monica Martinez-Gallo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Three Different Classifications, B Lymphocyte Subpopulations, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF13 (APRIL) Gene Mutations, CTLA-4 and ICOS Gene Polymorphisms in Turkish Patients with Common Variable Immunodeficiency

(2012) Necil Kutukculer et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

Role of TNFRSF13B variants in patients with common variable immunodeficiency

(2011) N. Martinez-Pomar et al.   BLOOD

T and B lymphocyte abnormalities in bone marrow biopsies of common variable immunodeficiency

(2011) M. L. G. Ochtrop et al.   BLOOD

Antibody deficiency due to a missense mutation in CD19 demonstrates the importance of the conserved tryptophan 41 in immunoglobulin superfamily domain formation

(2011) M. C. van Zelm et al.   HUMAN MOLECULAR GENETICS

Signaling by the tumor necrosis factor receptor superfamily in B-cell biology and disease

(2011) Robert C. Rickert et al.   IMMUNOLOGICAL REVIEWS

Genome-wide association identifies diverse causes of common variable immunodeficiency

(2011) Jordan S. Orange et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genetic CD21 deficiency is associated with hypogammaglobulinemia

(2011) Jens Thiel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

(2011) Joris M. van Montfrans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

TNFRSF13B/TACI Alterations in Greek Patients with Antibody Deficiencies

(2011) Matthaios Speletas et al.   JOURNAL OF CLINICAL IMMUNOLOGY

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders

(2010) K. Packwood et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele

(2010) H Artac et al.   GENES AND IMMUNITY

Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency

(2010) Nicolas Vince et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency

(2010) Menno C. van Zelm et al.   JOURNAL OF CLINICAL INVESTIGATION

A BAFF-R mutation associated with non-Hodgkin lymphoma alters TRAF recruitment and reveals new insights into BAFF-R signaling

(2010) Joanne M. Hildebrand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Unique DNA Repair Gene Variations and Potential Associations with the Primary Antibody Deficiency Syndromes IgAD and CVID

(2010) Steven M. Offer et al.   PLoS One

Primary B Cell Immunodeficiencies: Comparisons and Contrasts

(2009) Mary Ellen Conley et al.   Annual Review of Immunology

F.112. Human BAFF-R Deficiency is Associated with Primary Antibody Deficiency Syndrome

(2009) Anne-Kathrin Kienzler et al.   CLINICAL IMMUNOLOGY

Novel Mutations in TACI (TNFRSF13B) Causing Common Variable Immunodeficiency

(2009) Javad Mohammadi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

CD20 deficiency in humans results in impaired T cell–independent antibody responses

(2009) Taco W. Kuijpers et al.   JOURNAL OF CLINICAL INVESTIGATION

Impaired CD4 and CD8 Effector Function and Decreased Memory T Cell Populations in ICOS-Deficient Patients

(2009) N. Takahashi et al.   JOURNAL OF IMMUNOLOGY

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

(2009) K. Warnatz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) U. Salzer et al.   BLOOD