Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Journal of Allergy and Clinical Immunology

Volumn 124, Issue 6, 2009, Pages

  Engelhardt, Karin R ^a   McGhee, Sean ^b   Winkler, Sabine ^a   Sassi, Atfa ^c   Woellner, Cristina ^a   Lopez Herrera, Gabriela ^a   Chen, Andrew ^b   Kim, Hong Sook ^b   Lloret, Maria Garcia ^b   Schulze, Ilka ^d   Ehl, Stephan ^d   Thiel, Jens ^d   Pfeifer, Dietmar ^d   Veelken, Hendrik ^d   Niehues, Tim ^e   Siepermann, Kathrin ^e   Weinspach, Sebastian ^f   Reisli, Ismail ^g   Keles, Sevgi ^g   Genel, Ferah ^h   Kutuculer, Necil ⁱ   Camcioǧlu, Yildiz ^j   Somer, Ayper ^j   Karakoc Aydiner, Elif ^k   Barlan, Isil ^k   Gennery, Andrew ^l   Metin, Ayse ^m   Degerliyurt, Aydan ^m   Pietrogrande, Maria C ⁿ   Yeganeh, Mehdi ^o   Baz, Zeina ^p   Al Tamemi, Salem ^q   Klein, Christoph ^r   Puck, Jennifer M ^s   Holland, Steven M ^t   McCabe, Edward R B ^u   Grimbacher, Bodo ^a   Chatila, Talal A ^b   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^d UNIVERSITY OF FREIBURG   (Germany)

^e HELIOS KLINIKUM KREFELD   (Germany)

^f HEINRICH HEINE UNIVERSITY   (Germany)

^g SELCUK UNIVERSITY   (Turkey)

^h Behcet Uz State Hospital Division of Pediatric Immunology   (Turkey)

ⁱ EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^j ISTANBUL UNIVERSITY   (Turkey)

^k MARMARA UNIVERSITY   (Turkey)

^l NEWCASTLE UNIVERSITY   (United Kingdom)

^m SB Ankara Diskapi Children's Hospital   (Turkey)

ⁿ UNIVERSITY OF MILAN   (Italy)

^o TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^p SAINT GEORGE HOSPITAL UNIVERSITY MEDICAL CENTER   (Lebanon)

^q SULTAN QABOOS UNIVERSITY   (Oman)

^r Hannover Biomedical Research School   (Germany)

^s UNIVERSITY OF CALIFORNIA   (United States)

^t NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^u UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

Autosomal recessive hyper IgE syndrome; copy number variations; DOCK8; eosinophils; genomic deletions; human gene mutation; IgE regulation; molluscum contagiosum; primary immunodeficiency; recurrent infection; T cells; TH17 cells

Indexed keywords

DEDICATOR OF CYTOKINESIS 8 PROTEIN; GENE PRODUCT; IMMUNOGLOBULIN E; MUTANT PROTEIN; PROTEIN KINASE TYK2; STAT3 PROTEIN; UNCLASSIFIED DRUG;

ACTIN FILAMENT; ADULT; ARTICLE; ATOPIC DERMATITIS; AUTOSOMAL RECESSIVE DISORDER; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELLULAR IMMUNODEFICIENCY; CHILD; CHROMOSOME 9P; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CYTOKINESIS; DNA SEQUENCE; EOSINOPHILIA; EXON; FEMALE; FRAMESHIFT MUTATION; FURUNCULOSIS; GENE DELETION; GENE DISRUPTION; GENE IDENTIFICATION; GENE LOCATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HAPLOTYPE; HERPES; HOMOZYGOSITY; HUMAN; HYPER IGE SYNDROME; IMMUNOGLOBULIN BLOOD LEVEL; LYMPHOCYTE DIFFERENTIATION; MALE; MOLLUSCUM CONTAGIOSUM; PHENOTYPE; PNEUMONIA; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VIRUS INFECTION;

EID: 71149115670     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2009.10.038     Document Type: Article

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