ICON: The Early Diagnosis of Congenital Immunodeficiencies

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2015) Tomoki Kawai et al.   ALLERGOLOGY INTERNATIONAL

Functional T Cell Immunodeficiencies (with T Cells Present)

(2013) Luigi D. Notarangelo   Annual Review of Immunology

Gene therapy for PIDs: Progress, pitfalls and prospects

(2013) Sayandip Mukherjee et al.   GENE

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

(2013) Gulbu Uzel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years

(2013) Antonia Kwan et al.   JOURNAL OF ALLERGY AND 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

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

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

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

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

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1

(2013) M. D. Keller et al.   PEDIATRICS

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

(2013) I. Angulo et al.   SCIENCE

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome

(2013) A. Aiuti et al.   SCIENCE

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

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

Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration

(2012) A. J. J. Worth et al.   BLOOD

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

(2012) T. Kawai et al.   BLOOD

Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome

(2012) N. Mahlaoui et al.   BLOOD

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice

(2012) M. Recher et al.   BLOOD

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN IMMUNOLOGY

Congenital Asplenia in Mice and Humans with Mutations in a Pbx/Nkx2-5/p15 Module

(2012) Matthew Koss et al.   DEVELOPMENTAL CELL

Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans

(2012) Horst von Bernuth et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Leukocyte Adhesion Deficiencies

(2012) Edith van de Vijver et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

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

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

(2012) Janet Chou et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The long quest for neonatal screening for severe combined immunodeficiency

(2012) Rebecca H. Buckley   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defining combined immunodeficiency

(2012) Chaim M. Roifman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

(2012) Almundher Al-Maawali et al.   JOURNAL OF CHILD NEUROLOGY

HeterozygousTBK1mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood

(2012) Melina Herman et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K

(2012) Mary Ellen Conley et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

(2012) Eva d'Hennezel et al.   JOURNAL OF MEDICAL GENETICS

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

(2012) Kiran Patel et al.   JOURNAL OF PEDIATRICS

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

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

DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation

(2012) Haifa H Jabara et al.   NATURE IMMUNOLOGY

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hyper-Immunoglobulin M Syndrome Type 3 with Normal CD40 Cell Surface Expression

(2012) N. E. Karaca et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

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

(2012) D. Bogunovic et al.   SCIENCE

Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes

(2011) Christoph Klein   Annual Review of Immunology

ATM and the Molecular Pathogenesis of Ataxia Telangiectasia

(2011) Peter J. McKinnon   Annual Review of Pathology-Mechanisms of Disease

Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand

(2011) A. Jain et al.   BLOOD

Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming

(2011) G. Bouma et al.   BLOOD

Biomarkers of splenic function in infants with sickle cell anemia: baseline data from the BABY HUG Trial

(2011) Z. R. Rogers 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

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

(2011) D. Moratto et al.   BLOOD

Hematologically important mutations: Leukocyte adhesion deficiency (first update)

(2011) Edith van de Vijver et al.   BLOOD CELLS MOLECULES AND DISEASES

Genetic disorders with immune dysregulation

(2011) Eleonora Gambineri et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

(2011) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

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

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

Educational paper

(2011) Mirjam van der Burg et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Abbas F. Jawad et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases Associated with Neurologic Manifestations

(2011) Soodabeh Fazeli Dehkordy et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Expanding the Clinical and Genetic Spectrum of Human CD40L Deficiency: The Occurrence of Paracoccidioidomycosis and Other Unusual Infections in Brazilian Patients

(2011) Otavio Cabral-Marques et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008–2011)

(2011) James W. Verbsky 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

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

(2011) Vanessa Sancho-Shimizu et al.   JOURNAL OF CLINICAL INVESTIGATION

WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity

(2011) Shirly Becker-Herman et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

(2011) Kaan Boztug et al.   JOURNAL OF PEDIATRICS

Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

(2011) Donna M. McDonald-McGinn et al.   MEDICINE

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

Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis

(2011) Alix E. Seif   Cancer Genetics

Inborn errors of anti-viral interferon immunity in humans

(2011) Vanessa Sancho-Shimizu et al.   Current Opinion in Virology

Journal Info Home About the Journal Editorial Board Archive Research Topics View Some Authors Review Guidelines Subscribe to Alerts Search Article Type Publication Date ...... Go Author Info Why Submit? Fees Article Types Author Guidelines Submission Checklist Contact Editorial Office Submit Manuscript Review ARTICLE Abstract Full Text PDF 0 Write a Comment Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2011) Waleed Al-Herz   Frontiers in Immunology

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

(2010) M. H. Albert et al.   BLOOD

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

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

Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation

(2010) S A Gatz et al.   BONE MARROW TRANSPLANTATION

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

Clinical spectrum, pathophysiology and treatment of the Wiskott–Aldrich syndrome

(2010) Michael H Albert et al.   CURRENT OPINION IN HEMATOLOGY

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

Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes

(2010) Rebecca H. Buckley   IMMUNOLOGIC RESEARCH

Parental Consanguinity and the Risk of Primary Immunodeficiency Disorders: Report from the Kuwait National Primary Immunodeficiency Disorders Registry

(2010) Waleed Al-Herz et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

Immune deficiency caused by impaired expression of nuclear factor-κB essential modifier (NEMO) because of a mutation in the 5′ untranslated region of the NEMO gene

(2010) Jana L. Mooster et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred

(2010) Daniel H. Conway et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: Entering a new century, do we do better?

(2010) Andrew R. Gennery et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Successful Long-Term Correction of Autosomal Recessive Hyper-IgE Syndrome due to DOCK8 Deficiency by Hematopoietic Stem Cell Transplantation

(2010) T. C. Bittner et al.   KLINISCHE PADIATRIE

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

(2010) Capucine Picard et al.   MEDICINE

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Residual NADPH Oxidase and Survival in Chronic Granulomatous Disease

(2010) Douglas B. Kuhns et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2010) S. Pedraza et al.   PEDIATRICS

The Human NADPH Oxidase: Primary and Secondary Defects Impairing the Respiratory Burst Function and the Microbicidal Ability of Phagocytes

(2010) E. B. de Oliveira-Junior et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Toll-like Receptor and RIG-1-like Receptor Signaling

(2009) Taro Kawai et al.   Annals of the New York Academy of Sciences

LAD syndromes: FERMT3 kindles the signal: Figure 1

(2009) Guy A. Zimmerman   BLOOD

Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation

(2009) M. G. Seidel et al.   BLOOD

How I treat ADA deficiency

(2009) H. B. Gaspar et al.   BLOOD

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

Chronic Granulomatous Disease

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

Genetics of hypogammaglobulinemia: what do we really know?

(2009) Mary Ellen Conley   CURRENT OPINION IN IMMUNOLOGY

Genetic etiologies of leukocyte adhesion defects

(2009) Amos Etzioni   CURRENT OPINION IN IMMUNOLOGY

Neutropenia and Primary Immunodeficiency Diseases

(2009) Nima Rezaei et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Statewide Newborn Screening for Severe T-Cell Lymphopenia

(2009) John M. Routes   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

(2009) Shadi Al Khatib et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards

(2009) Yoichi Morinishi et al.   JOURNAL OF PEDIATRICS

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCY

(2009) Petra Moilanen et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency

(2008) J D Fish et al.   BONE MARROW TRANSPLANTATION

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

Severe Congenital Neutropenia or Hyper-IgM Syndrome? A Novel Mutation of CD40 Ligand in a Patient with Severe Neutropenia

(2008) Nima Rezaei et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

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

Autoimmunity in Hyper-IgM Syndrome

(2008) Adriana A. Jesus et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

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

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE

Multiple Colorectal Neoplasms in X-Linked Agammaglobulinemia

(2007) Lodewijk A.A. Brosens et al.   Clinical Gastroenterology and Hepatology

Pathophysiological aspects of memory B-cell development

(2007) Sandrine Roulland et al.   TRENDS IN IMMUNOLOGY