a second patient with activated p110δ syndrome (APDS) / p110δ activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI)
Case#: Buchbinder_2019_Patient 2, female, 2 y.o. (onset) 15 y.o. (report), Hispanic
DiseaseAssertion: ADPS/PASLI
FamilyInfo: The mutation was absent in the mother
CasePresentingHPOs: HP:0011947, HP:0031693, HP:0002716, HP:0003496, HP:0001888, HP:0001945, HP:0001433, HP:0001903, HP:0001873, HP:0001744, HP:0033542, HP:0010701, HP:0002720, HP:0003237, HP:0003496, HP:0030374, HP:0030381 (recurrent RTIs, Epstein-Barr virus infection, lymphadenopathy, elevated serum IgM, progressive lymphopenia, fever, hepatosplenomegaly, anemia, thrombocytopenia, splenomegaly, bronchial wall thickening, abnormal quantitative immunoglobulins, decreased IgA, elevated IgG, elevated IgM, decreased memory B cells, elevated transitional B cells)
CaseHPOFreeText: absence of autoantibodies
CaseNotHPOs: HP:0005561 (abnormal bone marrow)
CaseNotHPOFreeText: n/a
CasePreviousTesting: none
GenotypingMethod: Sanger sequencing of PI3KCD
PreviouslyPublished: not reported
Variant: heterozygous for NM_005026.5:c.3061G>A
ClinVarID: 88675
CAID: CA145460
gnomAD: not reported
SupplementalData: n/a