A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer

(2018) Quentin B. Vincent et al.   PLoS Neglected Tropical Diseases

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome

(2017) Louise Crivelli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

(2017) Virginie Grandin et al.   HUMAN MUTATION

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients

(2017) Maryam Alinejad Dizaj et al.   IMMUNOGENETICS

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency

(2017) Andrés Augusto Arias et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

(2017) Nevin Hatipoglu et al.   PEDIATRICS

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

(2017) Thais Louvain de Souza et al.   Frontiers in Microbiology

First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren’s Syndrome

(2017) Georgios Sogkas et al.   Frontiers in Immunology

IL-12 receptor 1β deficiency with features of autoimmunity and photosensitivity

(2016) Galina Ling et al.   AUTOIMMUNITY

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of anex-vivoassay for Th17 deficiency of diagnostic utility

(2016) F. Dhalla et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies

(2016) Jana P. Lovell et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

(2016) Nima Parvaneh et al.   PEDIATRIC BLOOD & CANCER

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in il12rb1 gene

(2016) Bahar Göktürk et al.   TURKISH JOURNAL OF PEDIATRICS

Clinical and genetic features of il12rb1 deficiency: single center experience of 18 patients

(2016) Çağman Tan et al.   TURKISH JOURNAL OF PEDIATRICS

IL12Rβ1: The cytokine receptor that we used to know

(2015) Richard T. Robinson   CYTOKINE

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease

(2015) S. Nabhani et al.   HAEMATOLOGICA

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease

(2015) S. Nabhani et al.   HAEMATOLOGICA

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Molecular analysis for patients with IL-12 receptor β1 deficiency

(2013) N. Ramirez-Alejo et al.   CLINICAL GENETICS

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

(2013) Monia Ouederni et al.   CLINICAL INFECTIOUS DISEASES

IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database

(2013) Esther van de Vosse et al.   HUMAN MUTATION

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

(2013) Kinda Schepers et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

BLAST: a more efficient report with usability improvements

(2013) Grzegorz M. Boratyn et al.   NUCLEIC ACIDS RESEARCH

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

(2013) Hannah Verdin et al.   PLoS Genetics

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Cutaneous Leukocytoclastic Vasculitis due toSalmonella enteritidisin a Child with Interleukin-12 Receptor Beta-1 Deficiency

(2012) Serkan Filiz et al.   PEDIATRIC DERMATOLOGY

Alu elements: know the SINEs

(2011) Prescott Deininger   GENOME BIOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Bacille Calmette–Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families

(2010) Sigifredo Pedraza-Sánchez et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Oesophageal squamous cell carcinoma in a young adult with IL-12R 1 deficiency

(2010) M. Cardenes et al.   JOURNAL OF MEDICAL GENETICS

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Clinical Disease Caused by Klebsiella in 2 Unrelated Patients With Interleukin 12 Receptor  1 Deficiency

(2010) S. Pedraza et al.   PEDIATRICS

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Alu-repeat-induced deletions within theNCF2gene causing p67-phox-deficient chronic granulomatous disease (CGD)

(2009) Marcus Gentsch et al.   HUMAN MUTATION

A 475 years-old founder effect involving IL12RB1: A highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants

(2009) J. Yancoski et al.   INFECTION GENETICS AND EVOLUTION

Atypical presentation of IL-12 receptor β1 deficiency with pneumococcal sepsis and disseminated nontuberculous mycobacterial infection in a 19-month-old girl born to nonconsanguineous US residents

(2009) David A. Gruenberg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gross Deletions Involving IGHM, BTK, or Artemis: A Model for Genomic Lesions Mediated by Transposable Elements

(2008) Menno C. van Zelm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE