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A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency
Delia Nicoară1, Cristina Niță1, Ana Stanilă1
1Sfânta Maria Clinical Hospital, Bucharest, Romania.
Insights
Deficiency of adenosine deaminase 2 (DADA2) is a rare genetic disorder. This case highlights a severe presentation of DADA2 with gastrointestinal vasculitis and neutropenia, linked to a novel CECR1 mutation.
Area of Science:
- Genetics
- Immunology
- Vascular Biology
Background:
- Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by mutations in the ADA2 gene (CECR1).
- DADA2 presents with diverse phenotypes including inflammatory/vascular, immune dysregulatory, and hematologic manifestations, often with overlapping features.
- The genetic basis and clinical spectrum of DADA2 are still being elucidated, necessitating further case studies.
Background:
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes: inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups.
Case Presentation:
We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.
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