Case#: P23, Male, diagnosed at age 7

DiseaseAssertion: APDS

FamilyInfo:

CaseHPOFreeText: cytomegalovirus, lymphadenopathy, EBV lymphadenitis, B cell lymphoma, IgA vasculitis

GenotypingMethod: Unclear, possibly WES ("In a previous study (15), we reviewed clinical and routine immunological features of 15 APDS patients diagnosed in our center by next-generation sequencing (NGS). In the present study, we extended our previous study...")

Variant: E81K

CAID: CA338300169

gnomAD: absent from gnomAD v2.1.1

SupplementalData: Table S1