Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review

(2019) Hemmo A. F. Yska et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

(2019) Cristina Cifaldi et al.   Frontiers in Immunology

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

(2018) W. Rae et al.   CLINICAL GENETICS

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6

(2018) Clara Franco-Jarava et al.   CLINICAL IMMUNOLOGY

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L , clinical analysis and future prospects

(2018) Patrice Bourgeois et al.   HUMAN MUTATION

Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes

(2018) Vicki Modell et al.   IMMUNOLOGIC RESEARCH

Epithelial barrier dysfunction in desmoglein-1 deficiency

(2018) Laura Polivka et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Use of Genetic Testing for Primary Immunodeficiency Patients

(2018) Jennifer R. Heimall et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

(2018) John Y.W. Lee et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Favism and Glucose-6-Phosphate Dehydrogenase Deficiency

(2018) Lucio Luzzatto et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory

(2018) Atil Bisgin et al.   Biomed Research International

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

(2018) Frédéric Vély et al.   Frontiers in Immunology

Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders

(2018) Rohan Ameratunga et al.   Frontiers in Immunology

Epigenetic Deregulation in Human Primary Immunodeficiencies

(2018) Elena Campos-Sanchez et al.   TRENDS IN IMMUNOLOGY

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

(2018) João Farela Neves et al.   Frontiers in Immunology

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

(2018) Pere Soler-Palacín et al.   Frontiers in Immunology

Reporting practices for variants of uncertain significance from next generation sequencing technologies

(2017) Danya F. Vears et al.   European Journal of Medical Genetics

Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis

(2017) Ulrich Siler et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

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

Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia

(2017) Glynis Frans et al.   JOURNAL OF CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies

(2017) Michael Seleman et al.   Frontiers in Immunology

Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion

(2016) Maria José Franco-Barrera et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome

(2016) Way Seah Lee et al.   GENE

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

(2016) Hamoud Al-Mousa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing

(2016) Hui Yu et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

(2016) Hye Sun Kuehn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

(2016) Vera Gallo et al.   Frontiers in Immunology

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in theRECQL4andUSB1 (C16orf57)gene

(2016) Aude-Annick Suter et al.   Molecular Genetics & Genomic Medicine

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome

(2015) N.A. Schlipf et al.   BRITISH JOURNAL OF DERMATOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

EDA-ID and IP, Two Faces of the Same Coin: How the SameIKBKG/NEMOMutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation

(2015) Francesca Fusco et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

PLAID: a Syndrome of Complex Patterns of Disease and Unique Phenotypes

(2015) Joshua D. Milner   JOURNAL OF CLINICAL IMMUNOLOGY

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

(2015) Mark Depner et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

(2015) Qing Zhou et al.   NATURE GENETICS

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome

(2015) Nicholas L. Rider et al.   Frontiers in Pediatrics

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

(2014) C. Has et al.   BRITISH JOURNAL OF DERMATOLOGY

A homozygousSIX6mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

(2014) K.O. Yariz et al.   CLINICAL GENETICS

The Rothmund-Thomson syndrome helicase RECQL4 is essential for hematopoiesis

(2014) Monique F. Smeets et al.   JOURNAL OF CLINICAL INVESTIGATION

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic skin diseases related to desmosomes and corneodesmosomes

(2014) Akemi Ishida-Yamamoto et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

(2014) Carrie L. Lucas et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Clinical presentation and outcome in a series of 88 patients with the cblC defect

(2014) Sabine Fischer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The 253-kb inversion and deep intronic mutations inUNC13Dare present in North American patients with familial hemophagocytic lymphohistiocytosis 3

(2014) Yaping Qian et al.   PEDIATRIC BLOOD & CANCER

Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning

(2014) Elena Sieni et al.   Frontiers in Immunology

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

(2014) Jennifer L. Stoddard et al.   Frontiers in Immunology

Novel deep intronic and missenseUNC13Dmutations in familial haemophagocytic lymphohistiocytosis type 3

(2013) Miriam Entesarian et al.   BRITISH JOURNAL OF HAEMATOLOGY

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

(2013) Isaac J. Nijman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

(2012) Qing Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations

(2012) Angelo Minucci et al.   BLOOD CELLS MOLECULES AND DISEASES

Homozygous truncation of SIX6 causes complex microphthalmia in humans

(2012) M A Aldahmesh et al.   CLINICAL GENETICS

Inherited ichthyoses/generalized Mendelian disorders of cornification

(2012) Matthias Schmuth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought

(2012) Ahmed Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

(2012) Lien De Somer et al.   Orphanet Journal of Rare Diseases

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

(2011) M. Meeths et al.   BLOOD

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

(2011) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency

(2011) Ari J. Fried et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

(2011) Nuria Carrillo-Carrasco et al.   JOURNAL OF INHERITED METABOLIC DISEASE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

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

Congenital pancytopenia and absence of B lymphocytes in a neonate with a mutation in the ikaros gene

(2011) Frederick D. Goldman et al.   PEDIATRIC BLOOD & CANCER

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations

(2011) Michael D. Keller et al.   Frontiers in Immunology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

(2010) Rebeca Pérez de Diego et al.   IMMUNITY

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

(2010) Lena F. Schimke et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency

(2010) John J. Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

(2010) Mei-Ying Liu et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Rothmund-Thomson syndrome

(2010) Lidia Larizza et al.   Orphanet Journal of Rare Diseases

T-Cell Immunodeficiency in CHARGE syndrome

(2009) Charu Chopra et al.   ACTA PAEDIATRICA

Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome

(2009) Joakim Klar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations

(2009) Jordan P. Lerner-Ellis et al.   HUMAN MUTATION

Comèl-Netherton syndrome defined as primary immunodeficiency

(2009) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes

(2008) U. Salzer et al.   BLOOD

An Immunodeficiency Disease withRAGMutations and Granulomas

(2008) Catharina Schuetz et al.   NEW ENGLAND JOURNAL OF MEDICINE