Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review.

Clinical Rheumatology
Sara GanhãoIva Brito

Abstract

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease resulting from loss-of-function pathogenic variants in ADA2 gene, which might resemble polyarteritis nodosa (PAN). The authors present two pediatric cases of ADA2 deficiency with phenotypic manifestations of PAN, including an unusual presentation with spinal cord ischemia. Also described is an assessment of ADA2 activity and gene expression profiling with description of a previously unreported homozygous variant, c.1226C > A (p.(Pro409His)), detected in a patient with consanguineous parents, confirmed by near-absent ADA2 plasma enzymatic activity. The authors suggest to first obtain enzymatic activity, whenever DADA2 is suspected, before proceeding to genetic testing, due to its excellent cost-effective results. Moreover, physicians must be aware of this monogenic disorder, especially in the case of early-onset PAN-like manifestations, having a family member with similar manifestations or having consanguineous parents suggesting an autosomal recessive inheritance pattern. Given the multi-organ involvement, recognizing the diverse manifestations is a crucial step towards timely diagnosis and management of this potentially fatal but often treatable synd...Continue Reading

References

Feb 21, 2014·The New England Journal of Medicine·Qing ZhouIvona Aksentijevich
Feb 21, 2014·The New England Journal of Medicine·Paulina Navon ElkanEphrat Levy-Lahad
Sep 10, 2016·Pediatric Rheumatology Online Journal·Roberta CaorsiMarco Gattorno
Apr 7, 2018·International Journal of Rheumatic Diseases·Andrea Human, Christian Pagnoux
May 11, 2018·Journal of Clinical Immunology·Deniz Cagdasİlhan Tezcan
Jun 29, 2018·Journal of Clinical Immunology·Isabelle Meyts, Ivona Aksentijevich
Jul 3, 2018·Frontiers in Immunology·Jason Michael SpringerIvona Aksentijevich
Jan 16, 2019·Cerebrovascular Diseases·Gustavo C SantoUNKNOWN Centro Hospitalar e Universitário de Coimbra
May 3, 2019·The Journal of Rheumatology·Seza ÖzenIlhan Tezcan

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Citations

Feb 28, 2021·Clinical Rheumatology·Bingqing ZhangXue Zhang
Feb 27, 2021·AJNR. American Journal of Neuroradiology·A F GeraldoM Severino
Apr 2, 2021·Clinical Rheumatology·Benzeeta PintoAman Sharma
Apr 27, 2021·Seminars in Arthritis and Rheumatism·Muserref Kasap CuceogluSeza Ozen

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