Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome

Blood

Volumn 112, Issue 5, 2008, Pages 1872-1875

  Wada, Taizo ^a   Yasui, Masahiro ^b   Toma, Tomoko ^a   Nakayama, Yuko ^a   Nishida, Mika ^a   Shimizu, Masaki ^a   Okajima, Michiko ^a   Kasahara, Yoshihito ^a   Koizumi, Shoichi ^a   Inoue, Masami ^b   Kawa, Keisei ^b   Yachie, Akihiro ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 2 RECEPTOR GAMMA; IL2RG PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; NATURAL KILLER CELL; OMENN SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN BIOPSY; SKIN DEFECT; T LYMPHOCYTE; X LINKED SEVERE COMBINED IMMUNODEFICIENCY; AMINO ACID SEQUENCE; DIFFERENTIAL DIAGNOSIS; GENETICS; IMMUNE DEFICIENCY; IMMUNOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; RNA SPLICING; SKIN;

AMINO ACID SEQUENCE; BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT; KILLER CELLS, NATURAL; MALE; MUTATION; PHENOTYPE; RNA SPLICE SITES; SKIN; T-LYMPHOCYTES; X-LINKED COMBINED IMMUNODEFICIENCY DISEASES;

EID: 52649102919     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-04-149708     Document Type: Article

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