A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70

Silent brain infarcts in two patients with zeta chain-associated protein 70kDa (ZAP70) deficiency

(2015) H. Haluk Akar et al.   CLINICAL IMMUNOLOGY

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

(2015) Bertrand Boisson et al.   CURRENT OPINION IN IMMUNOLOGY

Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs)

(2015) Jay P. Patel et al.   JOURNAL OF CLINICAL IMMUNOLOGY

T cell signaling abnormalities contribute to aberrant immune cell function and autoimmunity

(2015) Vaishali R. Moulton et al.   JOURNAL OF CLINICAL INVESTIGATION

T cell receptor dwell times control the kinase activity of Zap70

(2015) Christian Klammt et al.   NATURE IMMUNOLOGY

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency

(2014) Serge Grazioli et al.   CLINICAL IMMUNOLOGY

Immunodeficiency and immune dysregulation associated with proximal defects of T cell receptor signaling

(2014) Luigi D Notarangelo   CURRENT OPINION IN IMMUNOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

(2014) Sarah E Flanagan et al.   NATURE GENETICS

Structural Basis for Activation of ZAP-70 by Phosphorylation of the SH2-Kinase Linker

(2013) Q. Yan et al.   MOLECULAR AND CELLULAR BIOLOGY

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder

(2012) Ender Karaca et al.   GENE

T-cell receptor signaling and the pathogenesis of autoimmune arthritis: insights from mouse and man

(2012) Shimon Sakaguchi et al.   IMMUNOLOGY AND CELL BIOLOGY

ζ Chain–associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance

(2012) Pietro Luigi Poliani et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning

(2011) M Hönig et al.   BONE MARROW TRANSPLANTATION

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

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

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

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes

(2010) Chaim M. Roifman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency

(2010) Andrea Newell et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Graded Attenuation of TCR Signaling Elicits Distinct Autoimmune Diseases by Altering Thymic T Cell Selection and Regulatory T Cell Function

(2010) S. Tanaka et al.   JOURNAL OF IMMUNOLOGY

A genetically selective inhibitor demonstrates a function for the kinase Zap70 in regulatory T cells independent of its catalytic activity

(2010) Byron B Au-Yeung et al.   NATURE IMMUNOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Fas–FADD death domain complex structure reveals the basis of DISC assembly and disease mutations

(2010) Liwei Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

ZAP70: a master regulator of adaptive immunity

(2010) Alain Fischer et al.   Seminars in Immunopathology

Hypomorphic mutation ofZAP70in human results in a late onset immunodeficiency and no autoimmunity

(2009) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

The structure, regulation, and function of ZAP-70

(2009) Byron B. Au-Yeung et al.   IMMUNOLOGICAL REVIEWS

Redundant role for Zap70 in B cell development and activation

(2008) Farnaz Fallah-Arani et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

(2008) Tuba Turul et al.   EUROPEAN JOURNAL OF PEDIATRICS

Bullous pemphigoid in infancy: Clinical and epidemiologic characteristics

(2007) Orith Waisbourd-Zinman et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY