Stroke in a protein C‐deficient infant after stem cell transplant for CHARGE syndrome

Tanaka, Atsushi; Sakaguchi, Yuichi; Inoue, Hirosuke; Egami, Naoki; Sonoda, Yuri; Sonoda, Motoshi; Ishimura, Masataka; Ochiai, Masayuki; Hotta, Taeko; Uchiumi, Takeshi; Sakai, Yasunari; Ohga, Shouichi

doi:10.1002/pbc.30047

Cited by 1 publication

(3 citation statements)

References 18 publications

(32 reference statements)

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“…The patient has been recently reported as a case of posttransplant stroke due to heritable thrombophilia 12 . The newborn had severe cardiac complications, including hypoplastic left heart syndrome, hypoplastic aortal arch, and aortic atresia.…”

Section: Resultsmentioning

confidence: 99%

“…The diagnosis of athymic CHARGE syndrome was based on the presence of all six manifestations of CHARGE syndrome and severe T‐cell lymphopenia (<50/μL of CD3 + cells) along with a variant of the CHD7 gene if genetic testing was performed (Table 1). 6–12 …”

Section: Methodsmentioning

confidence: 99%

“…The patient has been recently reported as a case of posttransplant stroke due to heritable thrombophilia. 12 The newborn had severe cardiac complications, including hypoplastic left heart syndrome, hypoplastic aortal arch, and aortic atresia. After circulatory control by a Blalock-Taussig shunt, the infant received an HLA one-locus mismatched unrelated donor CBT without conditioning 71 days after birth.…”

Section: P2mentioning

confidence: 99%

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Non‐conditioned cord blood transplantation for infection control in athymic CHARGE syndrome

Sonoda,

Ishimura,

Inoue

et al. 2023

Pediatric Blood & Cancer

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ObjectiveCHARGE syndrome is a congenital malformation syndrome caused by heterozygous mutations in the CHD7 gene. Severe combined immunodeficiency (SCID) arises from congenital athymia called CHARGE/complete DiGeorge syndrome. While cultured thymus tissue implantation (CTTI) provides an immunological cure, hematopoietic cell transplantation (HCT) is an alternative option for immuno‐reconstitution of affected infants. We aimed to clarify the clinical outcomes of patients with athymic CHARGE syndrome after HCT.MethodsWe studied the immunological reconstitution and outcomes of four patients who received non‐conditioned unrelated donor cord blood transplantation (CBT) at Kyushu University Hospital from 2007 to 2022. The posttransplant outcomes were compared with the outcomes of eight reported patients.ResultsFour index cases received CBT 70–144 days after birth and had no higher than grade II acute graft‐versus‐host disease. One infant was the first newborn‐screened athymic case in Japan. They achieved more than 500/μL naïve T cells with balanced repertoire 1 month post transplant, and survived more than 12 months with home care. Twelve patients including the index cases received HCT at a median 106 days after birth (range: 70–195 days). One‐year overall survival rate was significantly higher in patients who underwent non‐conditioned HCT than in those who received conditioned HCT (100% vs. 37.5%, p = .02). Nine patients died, and the major cause of death was cardiopulmonary failure.ConclusionsAthymic infants achieved a prompt reconstitution of non‐skewing naïve T cells after non‐conditioned CBT that led to home care in infancy without significant infections. Non‐conditioned CBT is a useful bridging therapy for newborn‐screened cases toward an immunological cure by CTTI.

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Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: P2mentioning

confidence: 99%

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