ZZ.II.1
Case#: Schwab_2018_Patient_129, 16 y.o. (onset) and 19 y.o. (death), male, origin in Germany
DiseaseAssertion: CTLA4 Haploinsufficiency
FamilyInfo: mother (patient 128) was heterozygous with same variant. This patient was recored as 'affected' but type-1 diabetes was the only phenotype reported.
CasePresentingHPOs: HP:0001973, HP:0001945, HP:0001744, HP:0001058, HP:0004313, HP:0004315, HP:0002720, HP:0031378, HP:0002240, HP:0002716, HP:0002093, HP:0000964, HP:0001047 (ITP, fever, splenomegaly, wound healing disorder, hypogammaglobulinemia, low IgG, Low IgA, lymphoproliferation, hepatomegaly, lymphadenopathy, respiratory involvement, eczema, atopic dermatitis)
CaseHPOFreeText: organ infiltration (brain and lung), GLILD, neurological involvement,
CaseNotHPOs: large phenotype table with unreported symptoms in table S1
CaseNotHPOFreeText: n/a
CasePreviousTesting: unknown
GenotypingMethod: unknown
PreviouslyPublished: n/a
Variant: NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)
ClinVarID: 161109
CAID: CA173992
gnomAD: not found
SupplementalData: extensive data in S1
Note: functionally tested using transendocytosis