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  1. 1
    Clinical and immunological characteristics of a case with activated phosphoinositide 3-kinase δ syndrome 2

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  2. 2
    Immunodeficiency diseases with interstitial lung disease as major clinical manifestations report of six cases

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  3. 3
    X-linked neutropenia caused by gain-of-function mutation in WAS gene two cases report and literature review

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  4. 4
    Clinical and genetic manifestations of immunodeficiency, centromeric instability, and facial anomalies syndrome a case report and literature review

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  5. 5
    Application of copy number variation analysis based on raw data of next-generation sequencing in the molecular diagnosis for primary immunodeficiency disease

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  6. 6
    Spondyloenchondrodysplasia with immune dysregulation a case report and literature review

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  7. 7
    Novel mutations of ITGB2 induced leukocyte adhesion defect type 1

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