Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency

Journal of Clinical Immunology

Volumn 31, Issue 5, 2011, Pages 762-772

  Karakawa, Shuhei ^a   Okada, Satoshi ^a   Tsumura, Miyuki ^a   Mizoguchi, Yoko ^a   Ohno, Norioki ^a   Yasunaga, Shin'Ichiro ^b   Ohtsubo, Motoaki ^b   Kawai, Tomoki ^c   Nishikomori, Ryuta ^c   Sakaguchi, Takemasa ^a   Takihara, Yoshihiro ^b   Kobayashi, Masao ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b HIROSHIMA UNIVERSITY   (Japan)

^c KYOTO UNIVERSITY   (Japan)

Author keywords

IKBKG; measles; NEMO; splice site mutation; XL ED ID

Indexed keywords

I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MESSENGER RNA;

ARTICLE; CASE REPORT; CD4+ T LYMPHOCYTE; CHILD; CONTROLLED STUDY; ECTODERMAL DYSPLASIA; EXON; GENE; GENE MUTATION; HUMAN; HUMAN CELL; JAPANESE; LEUKOCYTE; LYMPHOCYTE PROLIFERATION; MALE; MEASLES; MEMORY CELL; MUMPS; NEMO GENE; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RUBELLA; SCHOOL CHILD; SPLICE SITE MUTATION; WILD TYPE; X LINKED ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY;

ALTERNATIVE SPLICING; BACTERIAL INFECTIONS; CD4-POSITIVE T-LYMPHOCYTES; CELL GROWTH PROCESSES; CHILD; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; ECTODERMAL DYSPLASIA; GENETIC DISEASES, X-LINKED; HUMANS; I-KAPPA B KINASE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOPHENOTYPING; JAPAN; LYMPHOCYTE ACTIVATION; MALE; PROTEIN ISOFORMS; RECURRENCE; T-LYMPHOCYTE SUBSETS; VIRUS DISEASES;

EID: 80755139741     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-011-9560-4     Document Type: Article

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