Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient

Journal of Clinical Immunology

Volumn 32, Issue 4, 2012, Pages 690-697

  Kawai, Tomoki ^a   Saito, Megumu ^b   Nishikomori, Ryuta ^a   Yasumi, Takahiro ^a   Izawa, Kazushi ^a   Murakami, Tomohiko ^c   Okamoto, Shigefumi ^d   Mori, Yasuko ^e   Nakagawa, Noriko ^f   Imai, Kohsuke ^g   Nonoyama, Shigeaki ^h   Wada, Taizo ⁱ   Yachie, Akihiro ⁱ   Ohmori, Katsuyuki ^a   Nakahata, Tatsutoshi ^b   Heike, Toshio ^a  

^a KYOTO UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c Kawakita General Hospital   (Japan)

^d NATIONAL INSTITUTE OF BIOMEDICAL INNOVATION   (Japan)

^e KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f Self Defense Forces Fukuoka Hospital   (Japan)

^g TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^h NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

ⁱ KANAZAWA UNIVERSITY   (Japan)

Author keywords

Multiple; Reversion; Severe combined immunodeficiency

Indexed keywords

ACICLOVIR; CD56 ANTIGEN; GENOMIC DNA; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; INTERLEUKIN 2 RECEPTOR GAMMA; MITOGENIC AGENT; T LYMPHOCYTE RECEPTOR ALPHA CHAIN; T LYMPHOCYTE RECEPTOR BETA CHAIN; T LYMPHOCYTE RECEPTOR DELTA CHAIN; T LYMPHOCYTE RECEPTOR GAMMA CHAIN;

ARTICLE; CASE REPORT; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELLULAR IMMUNITY; CHICKENPOX; CHILD; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; FLOW CYTOMETRY; GENE MUTATION; HUMAN; HUMAN CELL; IL2RG GENE; IMMUNOGLOBULIN BLOOD LEVEL; IN VITRO STUDY; IN VIVO STUDY; LABORATORY TEST; LYMPHOCYTE COUNT; LYMPHOCYTE FUNCTION; LYMPHOCYTE PROLIFERATION; MALE; MOSAICISM; PHENOTYPE; PRE T LYMPHOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; REVERTANT; SOMATIC MOSAICISM; SOMATIC REVERSION; T LYMPHOCYTE; VERRUCA VULGARIS; VIRUS INFECTION; X LINKED SEVERE COMBINED IMMUNODEFICIENCY;

CD4-POSITIVE T-LYMPHOCYTES; CD8-POSITIVE T-LYMPHOCYTES; CELL PROLIFERATION; CHILD; HUMANS; IMMUNITY, CELLULAR; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; LYMPHOCYTE ACTIVATION; MALE; MUTATION; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; RECEPTORS, ANTIGEN, T-CELL, GAMMA-DELTA; T-LYMPHOCYTES; X-LINKED COMBINED IMMUNODEFICIENCY DISEASES;

EID: 84863988487     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-012-9684-1     Document Type: Article

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