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  1. 1
    Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases Middle East and North Africa registry

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  2. 2
    Clinical and immunological analysis of a large kindred affected by autoimmune lymphoproliferative syndrome (ALPS) due to a novel TNFRSF6 mutation displaying age dependent disease activity

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  3. 3
    Variants in CASP10, a diagnostic challenge Single center experience and review of the literature

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  4. 4
    Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations

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  5. 5
    Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome

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  6. 6
    Lack of evidence for post-vaccine onset of autoimmune/lymphoproliferative disorders, during a nine-month follow-up in multiply vaccinated Italian military personnel

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  7. 7
    De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

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