Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

(2015) Francesca Conti et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Anticytokine Autoantibody–Associated Immunodeficiency

(2014) Sarah K. Browne   Annual Review of Immunology

Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8K108E mutation

(2014) S. Salem et al.   BLOOD

A nonsense mutation in IKBKB causes combined immunodeficiency

(2014) T. Mousallem et al.   BLOOD

X-linked hyper IgM syndrome: Clinical, immunological and molecular features in patients from India

(2014) Manisha Madkaikar et al.   BLOOD CELLS MOLECULES AND DISEASES

Tuberculosis and HIV co-infection in children

(2014) Elisabetta Venturini et al.   BMC INFECTIOUS DISEASES

Phagocyte NADPH oxidase, chronic granulomatous disease and mycobacterial infections

(2014) Christine Deffert et al.   CELLULAR MICROBIOLOGY

Infections in Patients with Cystic Fibrosis

(2014) Peter H. Gilligan   CLINICS IN LABORATORY MEDICINE

Levels of anti-cytokine antibodies may be elevated in patients with pulmonary disease associated with non-tuberculous mycobacteria

(2014) Kyungchul Kim et al.   CYTOKINE

Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency

(2014) Janet Chou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

BCG vaccination in patients with severe combined immunodeficiency: Complications, risks, and vaccination policies

(2014) Beatriz E. Marciano et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ

(2014) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Major Histocompatibility Complex Class II Deficiency Complicated by Mycobacterium avium Complex in a Boy of Mixed Ethnicity

(2014) Dimana Dimitrova et al.   JOURNAL OF CLINICAL IMMUNOLOGY

First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes

(2014) Otavio Cabral-Marques et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Multidrug-Resistant Nontuberculous Mycobacteria Isolated from Cystic Fibrosis Patients

(2014) P. H. C. Candido et al.   JOURNAL OF CLINICAL MICROBIOLOGY

Delayed BCG Vaccination—Time to Take a Shot

(2014) Alexander W. Kay et al.   JOURNAL OF INFECTIOUS DISEASES

Advanced Immune Suppression is Associated With Increased Prevalence of Mixed-StrainMycobacterium tuberculosisInfections Among Persons at High Risk for Drug-Resistant Tuberculosis in Botswana

(2014) Sanghyuk S. Shin et al.   JOURNAL OF INFECTIOUS DISEASES

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

Human genetics of tuberculosis: a long and winding road

(2014) L. Abel et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

Modeling Tuberculosis in Nonhuman Primates

(2014) C. A. Scanga et al.   Cold Spring Harbor Perspectives in Medicine

The Immune Response in Tuberculosis

(2013) Anne O'Garra et al.   Annual Review of Immunology

Autoantibodies against cytokines: back to human genetics

(2013) A. Puel et al.   BLOOD

Partial IFN- R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

(2013) M. Moncada-Velez et al.   BLOOD

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset

(2013) E. M. Mace et al.   BLOOD

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

(2013) M. A. Spinner et al.   BLOOD

The evolution of cellular deficiency in GATA2 mutation

(2013) R. E. Dickinson et al.   BLOOD

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

(2013) A. P. Hsu et al.   BLOOD

Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report

(2013) Sébastien Poulin et al.   BMC INFECTIOUS DISEASES

Molecular diagnosis of chronic granulomatous disease

(2013) D. Roos et al.   CLINICAL AND EXPERIMENTAL 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

Infections in Children and Adolescents With Juvenile Idiopathic Arthritis and Inflammatory Bowel Disease Treated With Tumor Necrosis Factor-  Inhibitors: Systematic Review of the Literature

(2013) S. S. Toussi et al.   CLINICAL INFECTIOUS DISEASES

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

Reactive and Infective Dermatoses Associated with Adult-Onset Immunodeficiency due to Anti-Interferon-Gamma Autoantibody: Sweet's Syndrome and Beyond

(2013) Jasper Fuk-Woo Chan et al.   DERMATOLOGY

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

(2013) O. Hirata et al.   HAEMATOLOGICA

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

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

Gamma Interferon Receptor Defect Presenting as Recurrent Tuberculosis

(2013) Balasubramanian Sundaram et al.   INDIAN JOURNAL OF PEDIATRICS

Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation

(2013) Takakazu Yoshioka et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

(2013) Lena F. Schimke et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Disseminated Mycobacterium avium complex infection in a patient carrying autoantibody to interferon-γ

(2013) Takashi Ishii et al.   JOURNAL OF INFECTION AND CHEMOTHERAPY

Novel assay to detect increased level of neutralizing anti-interferon gamma autoantibodies in non-tuberculous mycobacterial patients

(2013) Kenjiro Shima et al.   JOURNAL OF INFECTION AND CHEMOTHERAPY

Critical Pulmonary Infection Due to Nontuberculous Mycobacterium in Pediatric Leukemia

(2013) Annalisa Arlotta et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

Advances in the development of new tuberculosis drugs and treatment regimens

(2013) Alimuddin Zumla et al.   NATURE REVIEWS DRUG DISCOVERY

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tuberculosis

(2013) Alimuddin Zumla et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent With Inherited STAT1 Deficiency

(2013) Oded Shamriz et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Autoantibody to Interferon-gamma Associated with Adult-Onset Immunodeficiency in Non-HIV Individuals in Northern Thailand

(2013) Panuwat Wongkulab et al.   PLoS One

Host Genomics and Control of Tuberculosis Infection

(2013) A. Cobat et al.   Public Health Genomics

Infección por Mycobacterium tuberculosis en una niña sometida a trasplante de progenitores hematopoyéticos

(2013) Julia Palma et al.   Revista Chilena de Infectologia

TB or Not TB: That Is No Longer the Question

(2013) R. L. Modlin et al.   Science Translational Medicine

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

(2012) Jacinta Bustamante et al.   Annals of the New York Academy of Sciences

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

(2012) M. Pasquet et al.   BLOOD

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

(2012) S. K. Browne et al.   BLOOD

Anti-IFN-  autoantibodies in adults with disseminated nontuberculous mycobacterial infections are associated with HLA-DRB1*16:02 and HLA-DQB1*05:02 and the reactivation of latent varicella-zoster virus infection

(2012) C.-Y. Chi et al.   BLOOD

Novel mutation of the activation-induced cytidine deaminase gene in a Tajik family: special review on hyper-immunoglobulin M syndrome

(2012) Seyed Alireza Mahdaviani et al.   Expert Review of Clinical Immunology

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

(2012) Xiao-Fei Kong et al.   HUMAN MOLECULAR GENETICS

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

Patients with inhibitory and neutralizing auto-antibodies to interferon-γ resemble the sporadic adult-onset phenotype of Mendelian Susceptibility to Mycobacterial Disease (MSMD) lacking Bacille Calmette–Guerin (BCG)-induced diseases

(2012) Wen-I. Lee et al.   IMMUNOBIOLOGY

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency

(2012) Neslihan Edeer Karaca et al.   Immunotherapy

XDR TB in a Case of IL12Rβ1 Deficiency: A Case Report of Mendelian Susceptibility to Mycobacterial Disease from India

(2012) Rashid H. Merchant et al.   INDIAN JOURNAL OF PEDIATRICS

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

(2012) Elizabeth P. Sampaio et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Opportunistic infections in patients with pulmonary alveolar proteinosis

(2012) Ankit D. Punatar et al.   JOURNAL OF INFECTION

Intestinal tuberculosis complicated with perforation during anti-tuberculous treatment in a 13-year-old girl with defective mitogen-induced IL-12 production

(2012) Siu-Tong Law et al.   JOURNAL OF MICROBIOLOGY IMMUNOLOGY AND INFECTION

A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

(2012) Sara S. Kilic et al.   JOURNAL OF PEDIATRICS

Adult-Onset Immunodeficiency in Thailand and Taiwan

(2012) Sarah K. Browne et al.   NEW ENGLAND JOURNAL OF MEDICINE

Host-pathogen coevolution in human tuberculosis

(2012) S. Gagneux   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Multidrug-Resistant Tuberculosis in an Adult with Cystic Fibrosis

(2012) K. Manika et al.   RESPIRATION

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

(2012) D. Bogunovic et al.   SCIENCE

Severe impairment of IFN-  and IFN-  responses in cells of a patient with a novel STAT1 splicing mutation

(2011) D. Vairo et al.   BLOOD

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

(2011) M. Hubeau et al.   BLOOD

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

(2011) Hidenori Ohnishi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical and Host Genetic Characteristics of Mendelian Susceptibility to Mycobacterial Diseases in Japan

(2011) Takayuki Hoshina et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation

(2011) Masaru Imamura et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency

(2011) Payam Tabarsi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) Venetia Bigley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Severe Axillary Lymphadenitis After BCG Vaccination: Alert for Primary Immunodeficiencies

(2011) Alexandra Santos et al.   JOURNAL OF MICROBIOLOGY IMMUNOLOGY AND INFECTION

Tuberculosis

(2011) Stephen D Lawn et al.   LANCET

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

(2011) Stéphanie Boisson-Dupuis et al.   PLoS One

Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

(2010) Sahar Mansour et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

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

Disseminated Penicilliosis, Recurrent Bacteremic Nontyphoidal Salmonellosis, and Burkholderiosis Associated with Acquired Immunodeficiency Due to Autoantibody against Gamma Interferon

(2010) B. S.-F. Tang et al.   Clinical and Vaccine Immunology

Anti-interferon-γ autoantibody and opportunistic infections: case series and review of the literature

(2010) T. Kampitak et al.   INFECTION

Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria

(2010) Ines Ackerl Kristensen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Molecular Diagnosis of Severe Combined Immunodeficiency—Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 Mutations in a Cohort of Chinese and Southeast Asian Children

(2010) Pamela P. W. Lee et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mediastinal Tuberculosis in an Adult Patient with Cystic Fibrosis

(2010) P. C. Morand et al.   JOURNAL OF CLINICAL MICROBIOLOGY

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

NIJMEGEN BREAKAGE SYNDROME COMPLICATED WITH PRIMARY CUTANEOUS TUBERCULOSIS

(2010) Melinda Erdös et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1

(2010) Diana Averbuch et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations

(2010) E. M. Avila et al.   PEDIATRICS

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

(2009) J. D. Matute et al.   BLOOD

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

(2009) D. C. Vinh et al.   BLOOD

Recurrent, MultifocalMycobacterium avium‐intercellulareInfection in a Patient with Interferon‐γ Autoantibody

(2009) N. Baerlecken et al.   CLINICAL INFECTIOUS DISEASES

Purine nucleoside phosphorylase deficiency with fatal course in two sisters

(2009) Caner Aytekin et al.   EUROPEAN JOURNAL OF PEDIATRICS

Disseminated bacille Calmette–Guérin in Iranian children with severe combined immunodeficiency

(2009) Mahnaz Sadeghi-Shabestari et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Tuberculosis in hematopoietic stem cell transplant patients: case report and review of the literature

(2009) Rachel Leite Russo et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Anti-interferon-γ autoantibody in a patient with disseminated Mycobacterium avium complex

(2009) Toshiyuki Koya et al.   JOURNAL OF INFECTION AND CHEMOTHERAPY

DARPin-Assisted Crystallography of the CC2-LZ Domain of NEMO Reveals a Coupling between Dimerization and Ubiquitin Binding

(2009) Olivera Grubisha et al.   JOURNAL OF MOLECULAR BIOLOGY

Pulmonary tuberculosis presenting as fever without source in a pediatric patient with acute lymphoblastic leukemia

(2009) Christina Lancioni et al.   PEDIATRIC BLOOD & CANCER

Inflammatory BCG adenitis associated with immune reconstitution following allogeneic haematopoietic stem cell transplant in infancy

(2009) E. Searle et al.   PEDIATRIC BLOOD & CANCER

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

(2008) Eduardo Lopez-Granados et al.   HUMAN MUTATION

Spectrum of primary immune deficiency at a tertiary care hospital

(2008) Sumit Verma et al.   INDIAN JOURNAL OF PEDIATRICS

Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity

(2008) Eric P. Hanson et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Biliary Cirrhosis in a Child with Inherited Interleukin-12 Deficiency

(2008) A. S. Pulickal et al.   JOURNAL OF TROPICAL PEDIATRICS

An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication

(2008) Caner Aytekin et al.   PEDIATRIC TRANSPLANTATION

Pediatric HIV immune reconstitution inflammatory syndrome

(2008) David R Boulware et al.   Current Opinion in HIV and AIDS