Human inborn errors of immunity: An expanding universe

Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection

(2020) Stuart G. Tangye et al.   BLOOD

Two Cases of Interleukin-7–Deficient Generalized Verrucosis

(2020) Hideyuki Kosumi et al.   CLINICAL INFECTIOUS DISEASES

Mendelian susceptibility to mycobacterial disease: recent discoveries

(2020) Jacinta Bustamante   HUMAN GENETICS

Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity

(2020) Shen-Ying Zhang   HUMAN GENETICS

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

(2020) Conor Gruber et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

(2020) Yin-Huai Chen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

(2020) Fahad Alsohime et al.   NEW ENGLAND JOURNAL OF MEDICINE

PAX1 is essential for development and function of the human thymus

(2020) Yasuhiro Yamazaki et al.   Science Immunology

Inherited human IFN-γ deficiency underlies mycobacterial disease

(2020) Gaspard Kerner et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2020) Vivien Béziat et al.   JOURNAL OF EXPERIMENTAL MEDICINE

CRISPR-based gene editing enables FOXP3 gene repair in IPEX patient cells

(2020) M. Goodwin et al.   Science Advances

Anti-human CD117 antibody-mediated bone marrow niche clearance in non-human primates and humanized NSG mice

(2019) Hye-Sook Kwon et al.   BLOOD

A New Class of Medicines through DNA Editing

(2019) Matthew H. Porteus   NEW ENGLAND JOURNAL OF MEDICINE

A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells

(2019) Frédéric Van Gool et al.   IMMUNITY

The γc Family of Cytokines: Basic Biology to Therapeutic Ramifications

(2019) Warren J. Leonard et al.   IMMUNITY

The autoimmune targets in IPEX are dominated by gut epithelial proteins

(2019) Daniel Eriksson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

(2019) Zinan Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A novel human IL2RB mutation results in T and NK cell–driven immune dysregulation

(2019) Isabel Z. Fernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1

(2019) Ewelina Mamcarz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

(2019) Gaspard Kerner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes

(2019) Mami Matsuda-Lennikov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

(2019) Sarah Spencer et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mg2+ regulation of kinase signaling and immune function

(2019) Chryssa Kanellopoulou et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inherited IL-18BP deficiency in human fulminant viral hepatitis

(2019) Serkan Belkaya et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Gene correction for SCID-X1 in long-term hematopoietic stem cells

(2019) Mara Pavel-Dinu et al.   Nature Communications

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

(2019) Nina K. Serwas et al.   Nature Communications

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism

(2019) Shen-Ying Zhang et al.   CURRENT OPINION IN IMMUNOLOGY

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

(2019) Rémy Rodriguez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Benefit Corporation: a path to affordable gene therapies?

(2019) Alain Fischer et al.   NATURE MEDICINE

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

(2019) Juan Li et al.   Science Immunology

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

(2019) Juan C. Ravell et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene therapy for severe combined immunodeficiencies and beyond

(2019) Alain Fischer et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

(2019) Najoua Lalaoui et al.   NATURE

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

(2019) Fabien G. Lafaille et al.   NATURE MEDICINE

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

(2018) Shen-Ying Zhang et al.   CELL

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

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

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

(2018) Federica Barzaghi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions

(2018) Frédéric Rieux-Laucat et al.   JOURNAL OF CLINICAL IMMUNOLOGY

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

(2018) Gina A. Montealegre Sanchez et al.   JOURNAL OF CLINICAL INVESTIGATION

Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome

(2018) Caroline Y. Kuo et al.   Cell Reports

SCID genotype and 6-month post-transplant CD4 count predict survival and immune recovery: a PIDTC retrospective study

(2018) Elie Haddad et al.   BLOOD

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

(2018) Lisa R. Forbes et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

(2018) Sarah Jill de Jong et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Reprogramming human T cell function and specificity with non-viral genome targeting

(2018) Theodore L. Roth et al.   NATURE

Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection

(2018) Bastian Zimmer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic immune cell counting in human blood samples for immunodiagnostics

(2018) Udo Baron et al.   Science Translational Medicine

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

(2018) Anna S. Lehle et al.   GASTROENTEROLOGY

The Biology of T Regulatory Type 1 Cells and Their Therapeutic Application in Immune-Mediated Diseases

(2018) Maria Grazia Roncarolo et al.   IMMUNITY

Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

(2018) Gregory M. Constantine et al.   IMMUNOLOGICAL REVIEWS

RAG gene defects at the verge of immunodeficiency and immune dysregulation

(2018) Anna Villa et al.   IMMUNOLOGICAL REVIEWS

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia

(2018) Jennifer M. Puck   IMMUNOLOGICAL REVIEWS

Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency

(2018) Alma-Martina Cepika et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

(2018) Eleonora Gambineri et al.   Frontiers in Immunology

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

(2017) Alain Fischer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders

(2017) Luigi D. Notarangelo et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis

(2017) Carsten Speckmann et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2017) Tobias Schwerd et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy

(2017) Alina Kurolap et al.   NEW ENGLAND JOURNAL OF MEDICINE

NF-κB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases

(2017) Ivona Aksentijevich et al.   Frontiers in Immunology

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

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

Aire Enforces Immune Tolerance by Directing Autoreactive T Cells into the Regulatory T Cell Lineage

(2016) Sven Malchow et al.   IMMUNITY

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

(2016) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency

(2016) Suk See De Ravin et al.   Science Translational Medicine

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

(2015) Yun Ling et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency

(2015) Liran Horev et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance

(2015) S. Yang et al.   SCIENCE

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

(2015) B. Lo et al.   SCIENCE

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

Effector Mechanisms of the Autoimmune Syndrome in the Murine Model of Autoimmune Polyglandular Syndrome Type 1

(2014) J. J. DeVoss et al.   JOURNAL OF IMMUNOLOGY

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

Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009

(2014) Sung-Yun Pai et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency

(2014) Salima Hacein-Bey-Abina et al.   NEW ENGLAND JOURNAL OF MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Gene Therapy for Wiskott-Aldrich Syndrome--Long-Term Efficacy and Genotoxicity

(2014) C. J. Braun et al.   Science Translational Medicine

The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations

(2013) Jean-Laurent Casanova et al.   Annual Review of Genomics and Human Genetics

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

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

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

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections

(2012) Amandine Crequer et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2012) Fabien G. Lafaille et al.   NATURE

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

The STAT5b Pathway Defect and Autoimmunity

(2012) Takahiro Kanai et al.   Frontiers in Immunology

Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth

(2011) Pekka Nieminen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation

(2010) M. Takagi et al.   BLOOD

Thymus transplantation

(2010) M. Louise Markert et al.   CLINICAL IMMUNOLOGY

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

(2010) Kai Kisand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

A Life of Adventure in Immunobiology

(2009) Max D. Cooper   Annual Review of Immunology

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

(2009) Alessandro Aiuti et al.   NEW ENGLAND JOURNAL OF MEDICINE

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNA methylation controls Foxp3 gene expression

(2008) Julia K. Polansky et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1

(2008) Salima Hacein-Bey-Abina et al.   JOURNAL OF CLINICAL INVESTIGATION

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

(2008) Chantal Lagresle-Peyrou et al.   NATURE GENETICS

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2

(2008) Ulrich Pannicke et al.   NATURE GENETICS