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  • 財團法人罕見疾病基金會

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    Severe combined immunodeficiency (SCID) is a rare, genetic disorder where the immune system is missing or not functioning properly. There are several types of SCID including those where the T-cells, B-cells, and natural killer cells are affected. SCID affects around 1 in 100,000 newborns and can be fatal without treatment by age 1 due to infections. Treatment options include bone marrow transplants which have a 75-90% success rate if a matched sibling donor is available.

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    Severe combined immunodeficiency (SCID) is a rare, genetic disorder where the immune system is missing or not functioning properly. There are several types of SCID including those where the T-cells, B-cells, and natural killer cells are affected. SCID affects around 1 in 100,000 newborns and can be fatal without treatment by age 1 due to infections. Treatment options include bone marrow transplants which have a 75-90% success rate if a matched sibling donor is available.

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    10 views1 page

    財團法人罕見疾病基金會

    Uploaded by

    石硯文
    Severe combined immunodeficiency (SCID) is a rare, genetic disorder where the immune system is missing or not functioning properly. There are several types of SCID including those where the T-cells, B-cells, and natural killer cells are affected. SCID affects around 1 in 100,000 newborns and can be fatal without treatment by age 1 due to infections. Treatment options include bone marrow transplants which have a 75-90% success rate if a matched sibling donor is available.

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    1305
    13
    ( Severe Combined Immunodeficiency )

    ICD-9-CM 279.2
    ICD-10-CM D81.0 D81.1 D81.2 D81.9

    (severe combined immunodeficiency)

    5 7

    T-, B+, NK- SCID, T-, B+, NK- SCID, and T-, B-, NK- SCID T-,
    B+, NK- SCID T-, B+, NK- SCID X-linked autosomal recessive

    SCID 20

    T B NK

    X-linked γ chain for +


    - - X-linked
    SCID IL2,4,7,9,15,21 (no function)

    +
    JAK3-SCID JAK3 - - AR
    (no function)

    IL7Ra-SCID IL7RA - + + AR

    CD45
    CD45 - + - AR
    deficiency

    ADA
    ADA - - - AR
    deficiency

    RAG1 - - + AR
    RAG-deficient SCID
    RAG2 - - + AR

    IMMUNODEFICIENCY17 CD3 - + + AR

    ZAP-70 kinase ZAP70 CD4+ + + AR

    MHC II deficiency MHC class II CD8+ + + AR

    SCID X-linked SCID 5 5


    3-6
    ( pneumocystis carinii pneumonia )
    X X

    SCID T
    X-linked SCID
    T ( Natural killer, NK ) B B
    IgA IgM IgG B

    SCID

    1.
    2.
    3.
    4. ( CMV ) ( irradiated )
    ( graft versus host reaction )

    HLA( ) HLA
    HLA graft versus host disease ( GVHD )

    ADA ( Adenosine deaminase ) ADA

    ( vector ) HLA

    75~90% HLA
    B

    2017

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