An Update on the Use of Immunomodulators in Primary Immunodeficiencies

From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation

(2016) Rosa Bacchetta et al.   Annals of the New York Academy of Sciences

Janus kinase inhibition lessens inflammation and ameliorates disease in murine models of hemophagocytic lymphohistiocytosis

(2016) R. Das et al.   BLOOD

Pioglitazone as a novel therapeutic approach in chronic granulomatous disease

(2016) Maddalena Migliavacca et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4

(2016) Sangmoon Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease

(2016) Timothy J. Vece et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Role of bacteria in leukocyte adhesion deficiency-associated periodontitis

(2016) George Hajishengallis et al.   MICROBIAL PATHOGENESIS

Toll-like receptor signaling in primary immune deficiencies

(2015) Paul J. Maglione et al.   Annals of the New York Academy of Sciences

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

(2015) Silvia Federici et al.   ANNALS OF THE RHEUMATIC DISEASES

Recommendations for the management of autoinflammatory diseases

(2015) Nienke M ter Haar et al.   ANNALS OF THE RHEUMATIC DISEASES

Administration of interleukin-7 increases CD4 T cells in idiopathic CD4 lymphocytopenia

(2015) V. Sheikh et al.   BLOOD

Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial

(2015) K. L. Bride et al.   BLOOD

Clinical immunology In vitro interferon γ improves the oxidative burst activity of neutrophils in patients with chronic granulomatous disease with a subtype of gp91phox deficiency

(2015) Serkan Filiz et al.   Central European Journal of Immunology

Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS)

(2015) Pu Li et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Pioglitazone restores phagocyte mitochondrial oxidants and bactericidal capacity in chronic granulomatous disease

(2015) Ruby F. Fernandez-Boyanapalli et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Advances in basic and clinical immunology in 2014

(2015) Javier Chinen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation

(2015) Eleanor Higgins et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India

(2015) Varun K. Sharma et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Spectrum of Phenotypes Associated with Mutations in LRBA

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

The ketone metabolite β-hydroxybutyrate blocks NLRP3 inflammasome–mediated inflammatory disease

(2015) Yun-Hee Youm et al.   NATURE MEDICINE

A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases

(2015) Rebecca C Coll et al.   NATURE MEDICINE

Anti interferon-gamma (IFNγ) monoclonal antibody treatment in a patient carrying an NLRC4 mutation and severe hemophagocytic lymphohistiocytosis

(2015) C Bracaglia et al.   Pediatric Rheumatology

Cytokines in systemic juvenile idiopathic arthritis and haemophagocytic lymphohistiocytosis: tipping the balance between interleukin-18 and interferon-γ

(2015) Karen Put et al.   RHEUMATOLOGY

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

(2015) B. Lo et al.   SCIENCE

A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation

(2015) Judith Wienke et al.   Oncotarget

NLRP3 inflammasome and its inhibitors: a review

(2015) Bo-Zong Shao et al.   Frontiers in Pharmacology

Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome

(2015) V. Koneti Rao   Frontiers in Pediatrics

Primary Immune Deficiencies - Principles of Care

(2015) Helen Chapel et al.   Frontiers in Immunology

Targeting cytokines in ALPS: it's FAShionable

(2014) D. T. Teachey   BLOOD

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus

(2014) F.-Y. Li et al.   BLOOD

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

(2014) J. D. Milner et al.   BLOOD

Tranexamic acid as maintenance treatment for non-histaminergic angioedema: analysis of efficacy and safety in 37 patients

(2014) C. Wintenberger et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Augmentation of antitubercular therapy with IFNγ in a patient with dominant partial IFNγ receptor 1 deficiency

(2014) Kanako Takeda et al.   CLINICAL IMMUNOLOGY

Prevention of Infections During Primary Immunodeficiency

(2014) C. Aguilar et al.   CLINICAL INFECTIOUS DISEASES

Treatment of hereditary autoinflammatory diseases

(2014) Nienke M. ter Haar et al.   CURRENT OPINION IN RHEUMATOLOGY

Infliximab for Treatment of Granulomatous Disease in Patients with Common Variable Immunodeficiency

(2014) Timothy J. Franxman et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mining the human autoantibody repertoire: Isolation of potent IL17A-neutralizing monoclonal antibodies from a patient with thymoma

(2014) Roger R Beerli et al.   mAbs

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans

(2014) Antonella de Luca et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Defective Neutrophil Recruitment in Leukocyte Adhesion Deficiency Type I Disease Causes Local IL-17-Driven Inflammatory Bone Loss

(2014) N. M. Moutsopoulos et al.   Science Translational Medicine

Pathophysiology of Hereditary Angioedema

(2014) Sonia Caccia et al.   Pediatric Allergy Immunology and Pulmonology

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

(2014) Waleed Al-Herz et al.   Frontiers in Immunology

Therapies in Aicardi-Goutières syndrome

(2013) Y. J. Crow et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Monogenic autoinflammatory diseases: Concept and clinical manifestations

(2013) Adriana Almeida de Jesus et al.   CLINICAL IMMUNOLOGY

Rituximab as Successful Adjunct Treatment in a Patient With Disseminated Nontuberculous Mycobacterial Infection Due to Acquired Anti-Interferon-  Autoantibody

(2013) C. A. Czaja et al.   CLINICAL INFECTIOUS DISEASES

Toll-like receptor 3 in viral pathogenesis: friend or foe?

(2013) Renzo Perales-Linares et al.   IMMUNOLOGY

Cord blood transplantation combined with rituximab for Wiskott-Aldrich syndrome with autoimmune thrombotic thrombocytopenic purpura

(2013) Hidemi Toyoda et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Factor XII–independent activation of the bradykinin-forming cascade: Implications for the pathogenesis of hereditary angioedema types I and II

(2013) Kusumam Joseph et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

(2013) Amélie E. Bigorgne et al.   JOURNAL OF CLINICAL INVESTIGATION

Anti-GM-CSF Autoantibodies in Patients with Cryptococcal Meningitis

(2013) L. B. Rosen et al.   JOURNAL OF IMMUNOLOGY

Nanofiltered C1-Esterase Inhibitor for the Acute Management and Prevention of Hereditary Angioedema Attacks due to C1-Inhibitor Deficiency in Children

(2013) William Lumry et al.   JOURNAL OF PEDIATRICS

Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children

(2013) Aditi Sinha et al.   KIDNEY INTERNATIONAL

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

How should we approach classification of autoinflammatory diseases?

(2013) Gilles Grateau et al.   Nature Reviews Rheumatology

Terminal Complement Inhibitor Eculizumab in Atypical Hemolytic–Uremic Syndrome

(2013) C.M. Legendre et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pediatric hereditary angioedema

(2013) Andrew J. MacGinnitie   PEDIATRIC ALLERGY AND IMMUNOLOGY

Characteristics of Children with Non-Hodgkin Lymphoma Associated with Primary Immune Deficiency Diseases: Descriptions of Five Patients

(2013) Suna Emir et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

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

(2013) I. Angulo et al.   SCIENCE

Mg2+ Regulates Cytotoxic Functions of NK and CD8 T Cells in Chronic EBV Infection Through NKG2D

(2013) B. Chaigne-Delalande et al.   SCIENCE

Anti-CD20 (rituximab) therapy for anti-IFN-  autoantibody-associated nontuberculous mycobacterial infection

(2012) S. K. Browne et al.   BLOOD

Long-Term Efficacy and Safety Profile of Rilonacept in the Treatment of Cryopryin-Associated Periodic Syndromes: Results of a 72-Week Open-Label Extension Study

(2012) Hal M. Hoffman et al.   CLINICAL THERAPEUTICS

Immune deficiency and autoimmunity

(2012) Thomas Prescott Atkinson   CURRENT OPINION IN RHEUMATOLOGY

Increased production of nitric oxide by neutrophils from patients with chronic granulomatous disease on interferon-gamma treatment

(2012) Fariba Naderi beni et al.   INTERNATIONAL IMMUNOPHARMACOLOGY

Acquired C1-Inhibitor Deficiency: 7 Patients Treated with Rituximab

(2012) Albanne Branellec et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Use of Combination Chemotherapy for Treatment of Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) in Patients with Common Variable Immunodeficiency (CVID)

(2012) Nicole M. Chase et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Granulomatous Disease in CVID: Retrospective Analysis of Clinical Characteristics and Treatment Efficacy in a Cohort of 59 Patients

(2012) Jean-Nicolas Boursiquot et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

(2012) Fabien G. Lafaille et al.   NATURE

Genetic variation in Toll-like receptors and disease susceptibility

(2012) Mihai G Netea et al.   NATURE IMMUNOLOGY

Salvage therapy of refractory hemophagocytic lymphohistiocytosis with alemtuzumab

(2012) Rebecca A. Marsh et al.   PEDIATRIC BLOOD & CANCER

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity

(2012) Federica Barzaghi et al.   Frontiers in Immunology

WAO Guideline for the Management of Hereditary Angioedema

(2012) Timothy Craig et al.   World Allergy Organization Journal

Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: A prospective, open-label, dose-escalation study

(2011) Ariel C. Bulua et al.   ARTHRITIS AND RHEUMATISM

Long-term treatment with eculizumab in paroxysmal nocturnal hemoglobinuria: sustained efficacy and improved survival

(2011) R. J. Kelly et al.   BLOOD

Efficacy and safety of rituximab in common variable immunodeficiency-associated immune cytopenias: a retrospective multicentre study on 33 patients

(2011) Delphine Gobert et al.   BRITISH JOURNAL OF HAEMATOLOGY

Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1

(2011) R. Goldbach-Mansky   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Gene therapy for primary immunodeficiency

(2011) Claire Booth et al.   CURRENT OPINION IN PEDIATRICS

New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome

(2011) David T. Teachey   CURRENT OPINION IN PEDIATRICS

Summary of the International Multicenter Prospective Angioedema C1-inhibitor Trials 1 and 2 (IMPACT1 and 2)

(2011) Svetlana Krassilnikova et al.   Expert Review of Clinical Immunology

Autophagy Controls IL-1β Secretion by Targeting Pro-IL-1β for Degradation

(2011) James Harris et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

IL-2 induces a WAVE2-dependent pathway for actin reorganization that enables WASp-independent human NK cell function

(2011) Jordan S. Orange et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Pentostatin for treatment of refractory autoimmune lymphoproliferative syndrome

(2011) Rajinder Bajwa et al.   PEDIATRIC BLOOD & CANCER

PPAR  activation normalizes resolution of acute sterile inflammation in murine chronic granulomatous disease

(2010) R. Fernandez-Boyanapalli et al.   BLOOD

Treatment of Disseminated Mycobacterial Infection with High-Dose IFN-γin a Patient with IL-12Rβ1 Deficiency

(2010) Abdullah A. Alangari et al.   Clinical & Developmental Immunology

Complications of Tumor Necrosis Factor–α Blockade in Chronic Granulomatous Disease–Related Colitis

(2010) Gulbu Uzel et al.   CLINICAL INFECTIOUS DISEASES

The Different Extent of B and T Cell Immune Reconstitution after Hematopoietic Stem Cell Transplantation and Enzyme Replacement Therapies in SCID Patients with Adenosine Deaminase Deficiency

(2010) F. Serana et al.   JOURNAL OF IMMUNOLOGY

Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis

(2010) Matthew P. Strout et al.   Nature Reviews Clinical Oncology

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

(2009) Seth L. Masters et al.   Annual Review of Immunology

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

Chronic Granulomatous Disease

(2009) Steven M. Holland   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, diminishes lymphoproliferation in the Fas -deficient MRL/lpr−/− murine model of autoimmune lymphoproliferative syndrome (ALPS)

(2009) Kennichi C. Dowdell et al.   EXPERIMENTAL HEMATOLOGY

Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management

(2009) Linda M. Griffith et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

(2009) Ivona Aksentijevich et al.   NEW ENGLAND JOURNAL OF MEDICINE

Use of Canakinumab in the Cryopyrin-Associated Periodic Syndrome

(2009) Helen J. Lachmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease

(2008) Daniel J B Marks et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 trap) in patients with familial cold autoinflammatory syndrome

(2008) Raphaela Goldbach-Mansky et al.   ARTHRITIS AND RHEUMATISM

B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: A therapeutic approach for APECED patients

(2008) I. Gavanescu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA