Patient B.1 in a second, unrelated family is a 13-year old male who presented within the first year of life
Case#: Takeda_2017_B.1, male, 0 years (onset)
DiseaseAssertion: APDS
FamilyInfo: unaffected mother was tested and found not to have the variant. Father was unavailable for testing
CasePresentingHPOs: abscess, severe diaper rash, recurrent otitis media, eczema, pneumonia, bloody stool, lymphoma, poor growth, low bone age, hypergammaglobulinema lymphocytopenia, elevated transitional B cells, sinopulmonary bacterial infection, decreased CD4+ T cell, decreased CD8+ T cells, decreased naive CD4+ T cells
(HP:0025615, HP:0011131, HP:0000403, HP:0000964, HP:0002090, HP:0025085, HP:0002665, HP:0002716, HP:0001510, HP:0002750, HP:0010702, HP:0001888, HP:0030381, HP:0005425, HP:0032218, HP:0005415, HP:0410378)
CaseHPOFreeText: marginal zone hyperplasia, EBV lymphadenitis, increased CD19+ B cells
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: NR
GenotypingMethod: WES + Sanger
PreviouslyPublished: NR
Variant: c.241G>A (p.E81K)
ClinVarID: NR
CAID: CA338300169
gnomAD: NR
SupplementalData: