Current perspectives on primary immunodeficiency diseases

被引:27
作者
Kumar, Arvind [1 ]
Teuber, Suzanne S. [1 ]
Gershwin, M. Eric [1 ]
机构
[1] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Sch Med, Dept Internal Med, Davis, CA 95616 USA
来源
CLINICAL & DEVELOPMENTAL IMMUNOLOGY | 2006年 / 13卷 / 2-4期
关键词
primary immunodeficiency disease; primary immunodeficiency; immunodeficiencies; autoimmune;
D O I
10.1080/17402520600800705
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Since the original description of X-linked agammaglobulinemia in 1952, the number of independent primary immunodeficiency diseases (PIDs) has expanded to more than 100 entities. By definition, a PID is a genetically determined disorder resulting in enhanced susceptibility to infectious disease. Despite the heritable nature of these diseases, some PIDs are clinically manifested only after prerequisite environmental exposures but they often have associated malignant, allergic, or autoimmune manifestations. PIDs must be distinguished from secondary or acquired immunodeficiencies, which are far more common. In this review, we will place these immunodeficiencies in the context of both clinical and laboratory presentations as well as highlight the known genetic basis.
引用
收藏
页码:223 / 259
页数:37
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共 154 条
  • [1] Cloning of the APECED gene provides new insight into human autoimmunity
    Aaltonen, J
    Björses, P
    [J]. ANNALS OF MEDICINE, 1999, 31 (02) : 111 - 116
  • [2] Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia
    Aghamohammadi, A
    Moin, M
    Farhoudi, A
    Rezaei, N
    Pourpak, Z
    Movahedi, M
    Gharagozlou, M
    Nabavi, M
    Shahrokhi, A
    [J]. FEMS IMMUNOLOGY AND MEDICAL MICROBIOLOGY, 2004, 40 (02): : 113 - 118
  • [3] Gene therapy for adenosine-deaminase-deficient severe combined immunodeficiency
    Aiuti, A
    [J]. BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY, 2004, 17 (03) : 505 - 516
  • [4] Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
    Aiuti, A
    Slavin, S
    Aker, M
    Ficara, F
    Deola, S
    Mortellaro, A
    Morecki, S
    Andolfi, G
    Tabucchi, A
    Carlucci, F
    Marinello, E
    Cattaneo, F
    Vai, S
    Servida, P
    Miniero, R
    Roncarolo, MG
    Bordignon, C
    [J]. SCIENCE, 2002, 296 (5577) : 2410 - 2413
  • [5] Reviewing Omenn syndrome
    Aleman, K
    Noordzij, JG
    de Groot, R
    van Dongen, JJM
    Hartwig, NG
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2001, 160 (12) : 718 - 725
  • [6] Pharmacokinetics of total immunoglobulin G and immunoglobulin G subclasses in patients undergoing replacement therapy for primary immunodeficiency syndromes
    Alyanakian, MA
    Bernatowska, E
    Scherrmann, JM
    Aucouturier, P
    Poplavsky, JL
    [J]. VOX SANGUINIS, 2003, 84 (03) : 188 - 192
  • [7] Selective antipolysaccharide antibody deficiency associated with peripheral blood CD5+ B-cell predominance
    Antall, PM
    Meyerson, H
    Kaplan, D
    Venglarcik, J
    Hostoffer, RW
    [J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 1999, 103 (04) : 637 - 641
  • [8] Cutting edge:: The common γ-chain is an indispensable subunit of the IL-21 receptor complex
    Asao, H
    Okuyama, C
    Kumaki, S
    Ishii, N
    Tsuchiya, S
    Foster, D
    Sugamura, K
    [J]. JOURNAL OF IMMUNOLOGY, 2001, 167 (01) : 1 - 5
  • [9] GENETIC AND IMMUNOLOGICAL ANALYSIS OF A FAMILY CONTAINING 5 PATIENTS WITH COMMON-VARIABLE IMMUNE-DEFICIENCY OR SELECTIVE IGA DEFICIENCY
    ASHMAN, RF
    SCHAFFER, FM
    KEMP, JD
    YOKOYAMA, WM
    ZHU, ZB
    COOPER, MD
    VOLANAKIS, JE
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 1992, 12 (06) : 406 - 414
  • [10] Nail dystrophy associated with a heterozygous mutation of the nude/SCID human FOXM1 (WHN) bone
    Auricchio, L
    Adriani, M
    Frank, J
    Busiello, R
    Christiano, A
    Pignata, C
    [J]. ARCHIVES OF DERMATOLOGY, 2005, 141 (05) : 647 - 648