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Article

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Blood - 14 Dec 2017

Hashem Hasan, Kumar Ashish R, Müller Ingo, Babor Florian, Bredius Robbert, Dalal Jignesh, Hsu Amy P, Holland Steven M, Hickstein Dennis D, Jolles Stephen, Krance Robert, Sasa Ghadir, Taskinen Mervi, Koskenvuo Minna, Saarela Janna, van Montfrans Joris, Wilson Keith, Bosch Barbara, Moens Leen, Hershfield Michael, Meyts Isabelle

Abstract excerpt

Deficiency of adenosine deaminase 2 (DADA2) is caused by biallelic deleterious mutations in CECR1 DADA2 results in variable autoinflammation and vasculopathy (recurrent fevers, livedo reticularis, polyarteritis nodosa, lacunar ischemic strokes, and intracranial hemorrhages), immunodeficiency and bone marrow failure. Tumor necrosis factor-α blockade is the treatment of choice for the autoinflammation and vascular...

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Source

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Identifiers

PMID: 28974505
DOI: 10.1182/blood-2017-07-798660
PMCID: PMC5731089

Genes

ADA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.PMID 28974505Read ↗

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