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  1. 1
    Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants

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  2. 2
    A case of PIK3R1 gene variation induced SHORT syndrome

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

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  4. 4
    Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two

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  5. 5
    Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections

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  6. 6
    De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly

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  7. 7
    Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

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  8. 8
    Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene

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  9. 9
    Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

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