Deficiency of adenosine deaminase 2 (DADA2) presenting with diffuse skeletal muscle vasculitis

J Paediatr Child Health. 2024 Jun;60(6):250-253. doi: 10.1111/jpc.16572. Epub 2024 May 28.

Authors

Sally Monda¹, Georgina Tiller^{1

2}, Peter Gowdie^{1

2

3}, Catriona McLean⁴, William D Renton^{1

2

3}

Affiliations

¹ Paediatric Rheumatology, Monash Children's Hospital, Melbourne, Victoria, Australia.
² Paediatric Rheumatology, The Royal Children's Hospital, Melbourne, Victoria, Australia.
³ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
⁴ Anatomical Pathology, Alfred Health, Melbourne, Victoria, Australia.

PMID: 38804661
DOI: 10.1111/jpc.16572

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenosine Deaminase* / deficiency
Female
Hereditary Autoinflammatory Diseases
Humans
Intercellular Signaling Peptides and Proteins / deficiency
Male
Muscle, Skeletal*
Vasculitis* / diagnosis
Vasculitis* / etiology

Substances

Adenosine Deaminase
ADA2 protein, human
Intercellular Signaling Peptides and Proteins

Supplementary concepts

deficiency of adenosine deaminase 2