Monogenic forms of common variable immunodeficiency and implications on target therapeutic approaches

Leniolisib: First Approval

(2023) Sean Duggan et al.   DRUGS

Treatment of inflammatory complications in common variable immunodeficiency (CVID): current concepts and future perspectives

(2023) Børre Fevang   Expert Review of Clinical Immunology

CTLA4 depletes T cell endogenous and trogocytosed B7 ligands via cis-endocytosis

(2023) Xiaozheng Xu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review

(2023) Xiaolan Yang et al.   MEDICINE

An open label trial of nemiralisib, an inhaled PI3 kinase delta inhibitor for the treatment of Activated PI3 kinase Delta Syndrome

(2023) Malcolm Begg et al.   PULMONARY PHARMACOLOGY & THERAPEUTICS

Clinical practice guideline for activated phosphatidyl inositol 3-kinase-delta syndrome in Japan

(2023) Kunihiko Moriya et al.   Immunological Medicine

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

(2023) Maria Elena Maccari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors

(2022) Luzia Bruns et al.   Frontiers in Immunology

Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency

(2022) Mehmet C. Catak et al.   ALLERGY

Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China

(2022) Luyao Qiu et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2022) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Therapeutic gene editing of T cells to correct CTLA-4 insufficiency

(2022) Thomas Andrew Fox et al.   Science Translational Medicine

Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?

(2022) Máté Krausz et al.   Frontiers in Immunology

Randomized, Placebo-Controlled, Phase 3 Trial of PI3Kδ Inhibitor Leniolisib for Activated PI3Kδ Syndrome

(2022) V. Koneti Rao et al.   BLOOD

Case report: Challenges in immune reconstitution following hematopoietic stem cell transplantation for CTLA-4 insufficiency-like primary immune regulatory disorders

(2022) Adriana Margarit-Soler et al.   Frontiers in Immunology

The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial

(2022) Máté Krausz et al.   Contemporary Clinical Trials Communications

Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies

(2021) Laura Gámez-Díaz et al.   Frontiers in Pediatrics

Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes

(2021) Laura Gámez-Díaz et al.   Biomedical Journal

Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency

(2021) Anna-Lisa Lanz et al.   CLINICAL IMMUNOLOGY

Therapeutic options for CTLA-4 insufficiency

(2021) David Egg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort

(2021) Jessica Oh et al.   Journal of Allergy and Clinical Immunology-In Practice

Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects

(2021) C. Dhunputh et al.   BLOOD

There is no gene for CVID — novel monogenetic causes for primary antibody deficiency

(2021) Neftali J Ramirez et al.   CURRENT OPINION IN IMMUNOLOGY

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

(2021) Dimana Dimitrova et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

PI3Kδ coordinates transcriptional, chromatin, and metabolic changes to promote effector CD8+ T cells at the expense of central memory

(2021) Jennifer L. Cannons et al.   Cell Reports

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

(2021) Jessica Rojas-Restrepo et al.   Frontiers in Immunology

Current genetic landscape in common variable immune deficiency

(2020) Hassan Abolhassani et al.   BLOOD

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

(2020) Giulio Tessarin et al.   Journal of Clinical Medicine

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells

(2019) Julia Bier et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Negative Co-stimulation Constrains T Cell Differentiation by Imposing Boundaries on Possible Cell States

(2019) Spencer C. Wei et al.   IMMUNITY

Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review

(2019) Mahnaz Jamee et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Abatacept modulates CD80 and CD86 expression and memory formation in human B-cells

(2019) Raquel Lorenzetti et al.   JOURNAL OF AUTOIMMUNITY

Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review

(2019) Sima Habibi et al.   Journal of Allergy and Clinical Immunology-In Practice

Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency

(2019) Ayca Kiykim et al.   Journal of Allergy and Clinical Immunology-In Practice

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

(2019) Victoria Katharina Tesch et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production

(2019) Anthony Lau et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1

(2018) Tsubasa Okano et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2018) Charlotte Schwab et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2018) Markus G. Seidel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Germline-activating mutations inPIK3CDcompromise B cell development and function

(2018) Danielle T. Avery et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond

(2018) Guillem de Valles-Ibáñez et al.   Frontiers in Immunology

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

(2018) Maria Elena Maccari et al.   Frontiers in Immunology

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

(2017) Tanya I. Coulter et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hematopoietic stem cell transplantation for CTLA4 deficiency

(2016) Mary A. Slatter et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study

(2016) Elodie Elkaim 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

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

(2015) B. Lo et al.   SCIENCE

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

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

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

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