Case#: 6-year-old female

DiseaseAssertion: Refractory AIHA

FamilyInfo: No family history of related disorders was documented, whole-exome sequencing of the familial trio revealed a novel heterozygous c.362_391del variant in CTLA-4

CasePresentingHPOs: HP:0001903, HP:0000952, HP:0040321, HP:0005505, HP:0001890, HP:0001298, HP:0001973

CaseHPOFreeText: Pale complexion, Hb: 48 g/L, a marked increase in reticulocytes, a positive DAT (IgG 3+, C3d 2+), total bilirubin 44.63 µmol/L, indirect bilirubin 25.32 µmol/L, positive DAT (IgG 3+, C3d 2+), normal glucose-6-phosphate dehydrogenase activity, normal levels of folic acid (6.07 ng/mL) and vitamin B12 (519.95 pg/mL), and bone marrow cytology indicative of hyperplastic anemia, hypertensive encephalopathy

CaseNotHPOFreeText: The ANA profile and antinuclear antibody test were negative, platelet counts remained within the normal range throughout the current disease course

CasePreviousTesting: NR

GenotypingMethod: Whole-exome sequencing

PreviouslyPublished: NR

Variant: NM_005214.5:c.362_391del

CAID: CA3273042436

gnomAD: N/A

SupplementalData: Table 1