Case#: Patient No. 5 (Table 1), Black race, male, 2.84 years old (age at time of gene therapy), 77 IQ score, 2.18 years since gene therapy (2 years since latest visit). An acute hypersensitivity reaction that occurred in Patient 5 on day 12 after HSPC gene therapy and concomitantly to a first administration of vancomycin was considered by the investigators to be probably related to HSPC gene therapy. The event resolved promptly after treatment with antihistamines, intravenous fluids, and glucocorticoids, with no sequelae.

DiseaseAssertion: MPS-IH

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: Yes

Variant1: c.1205G>A (p.W402X)

Variant1ClinVarID: 11908

Variant1CAID: CA220498

Variant2: c.1409delT (p.V470AfsX?)

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A