Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review
PMID: 37435083
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PMID: 37435083 Gene: ADA HGNCID: 186 Patient 1 Case: A 2-year-old Italian child Disease Assertion: SCID Family Info: No family history Case Presenting HPOs: NA Case HPO Free Text: NA Case NOT HPOs: NA Case NOT HPO Free Text: HIS was triggered by infectious complications while the patient was on enzyme replacement therapy; the patient was treated with high-dose corticosteroids and intravenous immunoglobulins with HIS remission. However, the patient required HLA-identical sibling donor hematopoietic stem cell transplantation (HSCT) for a definitive cure of ADA-SCID, without HIS relapse up to 13 years after HSCT. Case Previous Testing: NA Gene: ADA Variant: NA CAID: NA gnomAD: NA Supplemental Data: NA
Patient 2 PMID: 37435083 Gene: ADA HGNCID: 186 Case-Individuals template: Case: A 4-year-old male child Disease Assertion: SCID Family Info: positive family history (father with intestinal bowel disease diagnosis). Case Presenting HPOs: NA Case HPO Free Text: NA Case NOT HPOs: NA Case NOT HPO Free Text: The patient’s lymphocyte counts and subpopulations were progressively improving, although mild lymphopenia for their age was still present Case Previous Testing: NA Gene: ADA Variant: NA CAID: NA gnomAD: NA Supplemental Data: NA
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Case 1. A 2-year-old Italian child affected by ADA-SCID
Gene: ADA HGNCID: 186 Case: A 2-year-old Italian child Disease Assertion: SCID Family Info: No family history Case Presenting HPOs: NA Case HPO Free Text: NA Case NOT HPOs: NA Case NOT HPO Free Text: HIS was triggered by infectious complications while the patient was on enzyme replacement therapy; the patient was treated with high-dose corticosteroids and intravenous immunoglobulins with HIS remission. However, the patient required HLA-identical sibling donor hematopoietic stem cell transplantation (HSCT) for a definitive cure of ADA-SCID, without HIS relapse up to 13 years after HSCT.
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Case 2. A 4-year-old male child affected by ADA-SCID
Gene: ADA HGNCID: 186 Case-Individuals template: Case: A 4-year-old male child Disease Assertion: SCID Family Info: positive family history (father with intestinal bowel disease diagnosis). Case Presenting HPOs: NA Case HPO Free Text: NA Case NOT HPOs: NA Case NOT HPO Free Text: The patient’s lymphocyte counts and subpopulations were progressively improving, although mild lymphopenia for their age was still present Case Previous Testing: Gene: ADA Variant: NA CAID: NA gnomAD: NA Supplemental Data: NA
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