Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood

Validating Alzheimer's disease micro RNAs using next-generation sequencing

(2016) Andreas Keller et al.   Alzheimers & Dementia

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

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

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

Gene therapy for primary immunodeficiencies

(2015) A. Fischer et al.   CLINICAL GENETICS

The autoimmune conundrum in common variable immunodeficiency disorders

(2015) Annick A.J.M. van de Ven et al.   Current Opinion in Allergy and Clinical Immunology

Clinical Applications of Gene Therapy for Primary Immunodeficiencies

(2015) Maria Pia Cicalese et al.   HUMAN GENE THERAPY

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

(2015) Claudia Wehr et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

(2014) J. D. Milner et al.   BLOOD

HLA-haploidentical stem cell transplantation after removal of   + T and B cells in children with nonmalignant disorders

(2014) A. Bertaina et al.   BLOOD

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

(2014) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics

(2014) Maryam Ebadi et al.   Expert Review of Clinical Immunology

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

(2014) Benjamin Gathmann et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Case for Mandatory Newborn Screening for Severe Combined Immunodeficiency (SCID)

(2014) H. B. Gaspar et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Interleukin-2-Inducible T-Cell Kinase (ITK) Deficiency - Clinical and Molecular Aspects

(2014) Sujal Ghosh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Exhaustion of bacteria-specific CD4 T cells and microbial translocation in common variable immunodeficiency disorders

(2014) Matthieu Perreau et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

(2014) Sarah E Flanagan et al.   NATURE GENETICS

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

(2014) Rohan Ameratunga et al.   Frontiers in Immunology

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

(2013) Alexandre Belot et al.   ARTHRITIS AND RHEUMATISM

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

(2013) H. S. Kuehn et al.   BLOOD

Primary immunodeficiencies: A rapidly evolving story

(2013) Nima Parvaneh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study

(2013) Tayfun Güngör et al.   LANCET

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

Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency

(2013) Joon Park et al.   PLoS One

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

(2013) I. Angulo et al.   SCIENCE

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

Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts

(2012) Helen Chapel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The danger theory: 20 years later

(2012) Thomas Pradeu et al.   Frontiers in Immunology

Morbidity and mortality in common variable immune deficiency over 4 decades

(2011) E. S. Resnick et al.   BLOOD

Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening

(2011) L. Brown et al.   BLOOD

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Crosstalk between B lymphocytes, microbiota and the intestinal epithelium governs immunity versus metabolism in the gut

(2011) Natalia Shulzhenko et al.   NATURE MEDICINE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

How I treat common variable immune deficiency

(2010) C. Cunningham-Rundles   BLOOD

Impact of trough IgG on pneumonia incidence in primary immunodeficiency: A meta-analysis of clinical studies

(2010) Jordan S. Orange et al.   CLINICAL IMMUNOLOGY

Infection outcomes in patients with common variable immunodeficiency disorders: Relationship to immunoglobulin therapy over 22 years

(2010) Mary Lucas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better?

(2010) Andrew R. Gennery et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

B-Cell and T-Cell Phenotypes in CVID Patients Correlate with the Clinical Phenotype of the Disease

(2010) Gaël Mouillot et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Late‐Onset Combined Immune Deficiency: A Subset of Common Variable Immunodeficiency with Severe T Cell Defect

(2009) Marion Malphettes et al.   CLINICAL INFECTIOUS DISEASES

Infections in 252 Patients with Common Variable Immunodeficiency

(2008) Eric Oksenhendler et al.   CLINICAL INFECTIOUS DISEASES

Systemic Lupus Erythematosus

(2008) Anisur Rahman et al.   NEW ENGLAND JOURNAL OF MEDICINE