DOCK8 Deficiency Presenting as an IPEX-Like Disorder

Journal of Clinical Immunology

Volumn 37, Issue 8, 2017, Pages 811-819

  Alroqi, Fayhan J ^a,b   Charbonnier, Louis Marie ^a   Keles, Sevgi ^c   Ghandour, Fatima ^d   Mouawad, Pierre ^d   Sabouneh, Rami ^d   Mohammed, Reem ^b   Almutairi, Abduarahman ^b   Chou, Janet ^a   Massaad, Michel J ^a   Geha, Raif S ^a   Baz, Zeina ^d   Chatila, Talal A ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c NECMETTIN ERBAKAN UNIVERSITY   (Turkey)

^d SAINT GEORGE HOSPITAL UNIVERSITY MEDICAL CENTER   (Lebanon)

Author keywords

Combined Immunodeficiency; DOCK8; FOXP3; immune dysregulation; IPEX; IPEX like; regulatory T cells; Treg

Indexed keywords

CD19 ANTIGEN; CD27 ANTIGEN; CD3 ANTIGEN; CD4 ANTIGEN; CD8 ANTIGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; DEDICATOR OF CYTOKINESIS 8; GAMMA INTERFERON; GUANINE NUCLEOTIDE EXCHANGE FACTOR; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; INTERLEUKIN 17; INTERLEUKIN 2 RECEPTOR ALPHA; INTERLEUKIN 4; INTERLEUKIN 7 RECEPTOR; TRANSCRIPTION FACTOR FOXP3; UNCLASSIFIED DRUG; DOCK8 PROTEIN, HUMAN;

ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; CASE REPORT; CD4+ CD25+ T LYMPHOCYTE; CELL SELECTION; CHILD; CHRONIC DIARRHEA; CLINICAL ARTICLE; COLITIS; COMBINED IMMUNODEFICIENCY; DIARRHEA; DISEASE ASSOCIATION; DOCK8 DEFICIENCY; EAR INFECTION; ECZEMA; FEMALE; FLOW CYTOMETRY; FOOD ALLERGY; HUMAN; IMMUNOPHENOTYPING; IPEX SYNDROME; LOSS OF FUNCTION MUTATION; LYMPHOCYTE PROLIFERATION; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; REGULATORY T LYMPHOCYTE; SANGER SEQUENCING; T LYMPHOCYTE SUBPOPULATION; WEIGHT GAIN; WHOLE EXOME SEQUENCING; CHROMOSOME DISORDER; GENETICS; HEMOLYTIC ANEMIA; HYPERSENSITIVITY; IMMUNOLOGY; IMMUNOPATHOLOGY; INFANT; INFECTION; INSULIN DEPENDENT DIABETES MELLITUS; METABOLISM; MUTATION; RECESSIVE GENE; X CHROMOSOME LINKED DISORDER;

ANEMIA, HEMOLYTIC; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; DIABETES MELLITUS, TYPE 1; DIARRHEA; FEMALE; GENES, RECESSIVE; GENETIC DISEASES, X-LINKED; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; HYPERSENSITIVITY; IMMUNE SYSTEM DISEASES; IMMUNOGLOBULIN E; IMMUNOPHENOTYPING; INFANT; INFECTION; MUTATION; T-LYMPHOCYTES, REGULATORY;

EID: 85031905581     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-017-0451-1     Document Type: Article

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