Hematopoietic Stem Cell Transplantation for Children With Inborn Errors of Immunity

Gonvindaraj, Geeta M.; Uppuluri, Ramya; Ashraf, Tanveer; Raj, Revathi; Scaria, Vinod

doi:10.1007/s13312-021-2137-2

Cited by 1 publication

(2 citation statements)

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“…Currently, treatment of the CDAs consists primarily of blood transfusion support when needed and iron chelation in the setting of iron overload. Bone marrow transplantation has been shown to be curative for CDA I, CDA II, and CDA III [43–45,60–68,80] but because of mortality and morbidity associated with the procedure, it is generally reserved for a subset of patients with severe disease. Most transplants for CDA are performed in childhood (median age is 5.1 years) [68], although adult CDA patients have also successfully undergone bone marrow transplantation [80].…”

Section: Discussionmentioning

confidence: 99%

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The congenital dyserythropoieitic anemias: genetics and pathophysiology

King

Gallagher

Khoriaty

2021

Current Opinion in Hematology

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Purpose of reviewThe congenital dyserythropoietic anemias (CDA) are hereditary disorders characterized by ineffective erythropoiesis. This review evaluates newly developed CDA disease models, the latest advances in understanding the pathogenesis of the CDAs, and recently identified CDA genes.Recent findingsMice exhibiting features of CDAI were recently generated, demonstrating that Codanin-1 (encoded by Cdan1) is essential for primitive erythropoiesis. Additionally, Codanin-1 was found to physically interact with CDIN1, suggesting that mutations in CDAN1 and CDIN1 result in CDAI via a common mechanism. Recent advances in CDAII (which results from SEC23B mutations) have also been made. SEC23B was found to functionally overlap with its paralogous protein, SEC23A, likely explaining the absence of CDAII in SEC23B-deficient mice. In contrast, mice with erythroid-specific deletion of 3 or 4 of the Sec23 alleles exhibited features of CDAII. Increased SEC23A expression rescued the CDAII erythroid defect, suggesting a novel therapeutic strategy for the disease. Additional recent advances included the identification of new CDA genes, RACGAP1 and VPS4A, in CDAIII and a syndromic CDA type, respectively.SummaryEstablishing cellular and animal models of CDA is expected to result in improved understanding of the pathogenesis of these disorders, which may ultimately lead to the development of new therapies.

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Section: Discussionmentioning

confidence: 99%

“…Bone marrow transplantation is curative for CDA I [43–45] and should be considered in patients with severe transfusion-dependent anemia.…”

Section: Congenital Dyserythropoietic Anemia Type Imentioning

confidence: 99%