A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)

Journal of Clinical Immunology

Volumn 36, Issue 8, 2016, Pages 801-809

  Rechavi, Erez ^a   Lev, Atar ^a   Eyal, Eran ^a   Barel, Ortal ^a   Kol, Nitzan ^a   Barhom, Sarit Farage ^a   Pode Shakked, Ben ^a   Anikster, Yair ^a   Somech, Raz ^a   Simon, Amos J ^a  

^a TEL AVIV UNIVERSITY   (Israel)

Author keywords

centromeric instability and facial anomalies syndrome; DNMT3B; hypogammaglobulinemia; ICF; Immunodeficiency; KREC; TREC

Indexed keywords

ALANINE; ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; B LYMPHOCYTE RECEPTOR; DNA METHYLTRANSFERASE 3A; DNA METHYLTRANSFERASE 3B; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; T LYMPHOCYTE RECEPTOR; T LYMPHOCYTE RECEPTOR V BETA; THREONINE; UNCLASSIFIED DRUG; DNA (CYTOSINE 5) METHYLTRANSFERASE;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; BLOOD CULTURE; BRAIN DISEASE; CANDIDA PARAPSILOSIS; CANDIDIASIS; CASE REPORT; CD4 CD8 RATIO; CD4+ T LYMPHOCYTE; CENTROMERIC INSTABILITY; CHILD; CONTROLLED STUDY; DIARRHEA; ENTEROBACTER; ENZYME BINDING; ENZYME KINETICS; ESCHERICHIA COLI; EXON; FACE MALFORMATION; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FLOW CYTOMETRY; GASTROESOPHAGEAL REFLUX; GENE FREQUENCY; HOMOZYGOTE; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; KLEBSIELLA PNEUMONIAE; LYMPHOCYTE; LYMPHOCYTOPOIESIS; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STRUCTURE; PROTEINURIA; SANGER SEQUENCING; SEPTIC SHOCK; STAPHYLOCOCCUS EPIDERMIDIS; STAPHYLOCOCCUS INFECTION; T LYMPHOCYTE; THERMOSTABILITY; WHOLE EXOME SEQUENCING; ABNORMALITIES; CD8+ T LYMPHOCYTE; CENTROMERE; CHROMOSOMAL INSTABILITY; FACE; GENETICS; IMMUNOLOGY; INFANT; MALE;

B-LYMPHOCYTES; CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; DNA (CYTOSINE-5-)-METHYLTRANSFERASES; FACE; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MUTATION, MISSENSE; PHENOTYPE;

EID: 84991067542     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-016-0340-z     Document Type: Article

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