Universität zu Köln

Escherich, Carolin, Boetticher, Benedikt, Harmsen, Stefani, Hoemberg, Marc, Schaper, Joerg, Lorenz, Myriam Ricarda, Schwarz, Klaus, Borkhardt, Arndt and Oommen, Prasad Thomas (2022). The Growing Spectrum of DADA2 Manifestations-Diagnostic and Therapeutic Challenges Revisited. Front. Pediatr., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-2360

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Abstract

Deficiency of Adenosine Deaminase Type 2 (DADA2) is a rare autosomal recessive inherited disorder with a variable phenotype including generalized or cerebral vasculitis and bone marrow failure. It is caused by variations in the adenosine deaminase 2 gene (ADA2), which leads to decreased adenosine deaminase 2 enzyme activity. Here we present three instructive scenarios that demonstrate DADA2 spectrum characteristics and provide a clear and thorough diagnostic and therapeutic workflow for effective patient care. Patient 1 illustrates cerebral vasculitis in DADA2. Genetic analysis reveals a compound heterozygosity including the novel ADA2 variant, p.V325Tfs*7. In patient 2, different vasculitis phenotypes of the DADA2 spectrum are presented, all resulting from the homozygous ADA2 mutation p.Y453C. In this family, the potential risk for siblings is particularly evident. Patient 3 represents pure red cell aplasia with bone marrow failure in DADA2. Here, ultimately, stem cell transplantation is considered the curative treatment option. The diversity of the DADA2 spectrum often delays diagnosis and treatment of this vulnerable patient cohort. We therefore recommend early ADA2 enzyme activity measurement as a screening tool for patients and siblings at risk, and we expect early steroid-based remission induction will help avoid fatal outcomes.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Escherich, Carolin UNSPECIFIED UNSPECIFIED UNSPECIFIED Boetticher, Benedikt UNSPECIFIED UNSPECIFIED UNSPECIFIED Harmsen, Stefani UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoemberg, Marc UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaper, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Lorenz, Myriam Ricarda UNSPECIFIED UNSPECIFIED UNSPECIFIED Schwarz, Klaus UNSPECIFIED UNSPECIFIED UNSPECIFIED Borkhardt, Arndt UNSPECIFIED UNSPECIFIED UNSPECIFIED Oommen, Prasad Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-676454
DOI:	10.3389/fped.2022.885893
Journal or Publication Title:	Front. Pediatr.
Volume:	10
Date:	2022
Publisher:	FRONTIERS MEDIA SA
Place of Publication:	LAUSANNE
ISSN:	2296-2360
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ADENOSINE-DEAMINASE 2; POLYARTERITIS-NODOSA; ADA2 DEFICIENCY; PHENOTYPE; MACROPHAGES; GENOTYPE; CELLS Multiple languages Pediatrics Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/67645