[[AD_VCEP_Annotation_Protocol_Updated.pdf]]

Case#: 42 Chinese APDS1 patients (27 males and 15 females)

DiseaseAssertion: activated PI3Kδ syndrome 1(APDS1)

FamilyInfo: 42 patients from 41 different families in China (P3 and P11 were from one family)

CasePresentingHPOs: HP:0002205(Recurrent respiratory infections) HP:0002110(Bronchiectasis) HP:00027168(Lymphadenopathy) HP:0001744(Splenomegaly) HP:0002240(Hepatomegaly) HP:0002960(Autoimmunity) HP:0003496(Increased circulating IgM level) HP:0004315(Decreased circulating IgG level) HP:0003237(Increased circulating IgG level) HP:0003212(Increased circulating IgE level) HP:0002720(Decreased circulating IgA level) HP:0040218(Reduced natural killer cell count) HP:0005403(T lymphocytopenia) HP:0005407(Decreased proportion of CD4-positive helper T cells)

CaseHPOFreeText: Table 1 contains information of 42 patients. Immunological phenotype of cohort is summarized in Table 2.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Whole-exome sequencing

GenotypingMethod: Whole-exome sequencing

PreviouslyPublished: No

Variant: NM_005026.5:c.3061G>A p.E1021K

ClinVar: 88675

CAID: CA577192

gnomAD: 8.475e-7 https://gnomad.broadinstitute.org/variant/1-9726972-G-A?dataset=gnomad_r4

Variant: NM_005026.5(PIK3CD):c.3074A>G p.Glu1025Gly

ClinVar: 422410

CAID: CA16617216

gnomAD: Variant is not present in gnomAD data

Variant: NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)

ClinVar: 582515

CAID: CA338303813

gnomAD: Variant is not present in gnomAD data

Variant: NM_005026.5(PIK3CD):c.1570T>A p.Tyr524Asn

ClinVar: Not present in ClinVar

CAID: CA338303802

gnomAD: Variant is not present in gnomAD data