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Volumn 29, Issue 3, 2015, Pages 599-601

A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BASE PAIRING; CASE REPORT; CHINESE; CONTROLLED STUDY; DEDICATOR OF CYTOKINESIS 8 GENE; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPER IGE SYNDROME; IMMUNOGLOBULIN GENE; INTRON; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; CHINA; GENETICS; MALE; PEDIGREE; RECESSIVE GENE;

EID: 84923093819     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/jdv.12394     Document Type: Article
Times cited : (7)

References (8)
  • 1
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    • Alsum, Z.1    Hawwari, A.2    Alsmadi, O.3
  • 2
    • 78449249501 scopus 로고    scopus 로고
    • Dedicator of cytokinesis 8 (DOCK8) deficiency
    • Su HC,. Dedicator of cytokinesis 8 (DOCK8) deficiency. Curr Opin Allergy Clin Immunol 2010; 10: 515-520.
    • (2010) Curr Opin Allergy Clin Immunol , vol.10 , pp. 515-520
    • Su, H.C.1
  • 3
    • 78650642735 scopus 로고    scopus 로고
    • Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome
    • Zhang Q, Davis JC, Dove CG, Su HC,. Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome. Dis Markers 2010; 29: 131-139.
    • (2010) Dis Markers , vol.29 , pp. 131-139
    • Zhang, Q.1    Davis, J.C.2    Dove, C.G.3    Su, H.C.4
  • 4
    • 70949098060 scopus 로고    scopus 로고
    • Combined immunodeficiency associated with DOCK8 mutations
    • Zhang Q, Davis JC, Lamborn IT, et al,. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009; 361: 2046-2055.
    • (2009) N Engl J Med , vol.361 , pp. 2046-2055
    • Zhang, Q.1    Davis, J.C.2    Lamborn, I.T.3
  • 5
    • 71149115670 scopus 로고    scopus 로고
    • Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
    • Engelhardt KR, McGhee S, Winkler S, et al,. Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. J Allergy Clin Immunol 2009; 124: 1289-1302.e4.
    • (2009) J Allergy Clin Immunol , vol.124 , pp. 1289-1302e4
    • Engelhardt, K.R.1    McGhee, S.2    Winkler, S.3
  • 6
    • 67651225115 scopus 로고    scopus 로고
    • Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome
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    • Al Khatib S, Keles S, Garcia-Lloret M, et al,. Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. J Allergy Clin Immunol 2009; 124: 342-348, 348.e1-5.
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  • 8
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    • Cutaneous manifestations of DOCK8 deficiency syndrome
    • Chu EY, Freeman AF, Jing H, et al,. Cutaneous manifestations of DOCK8 deficiency syndrome. Arch Dermatol 2012; 148: 79-84.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.