Poliarteritis Nodosa (PAN) and Deficiency of Adenosine Deaminase 2 (DADA2)

Eleftheriou D, Dusser P, Koné-Paut I. Polyarteritis Nodosa. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn L,Mellins ED, Fuhlbrigge RC (eds). Textbook of Pediatric Rheumatology (8th ed). Philadelphia: Elsevier, 2021:467-472

Jennette JC, Falk RJ, Bacon PA, et al. 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum. 2013;65(1):1-11. doi:10.1002/art.37715

Tesar V, Kazderová M, Hlavácková L. Rokitansky and his first description of polyarteritis nodosa. J Nephrol. 2004;17(1):172-174.

Demir S, Bilginer Y. Primer-orta damar vaskülitleri: Poliarteritis nodoza ve adenozin deaminaz-2 eksikliği. Ergüven M, editör. Çocukluk Çağı Vaskülitleri. 1. Baskı. Ankara: Türkiye Klinikleri; 2021. p.21-6.

Hernández-Rodríguez J, Alba MA, Prieto-González S, Cid MC. Diagnosis and classification of polyarteritis nodosa. J Autoimmun. 2014;48-49:84-89. doi:10.1016/j.jaut.2014.01.029

Yüksel S, Evrengül H. Poliarteritis Nodoza ve Kütanöz Poliarteritis Nodoza. In: Poyrazoğlu MH, Sözeri B. Çocuk Romatoloji Kitabı (1. baskı). Ankara, Güneş Medical Bookstore, 2018: 203-213

Ozen S, Bakkaloglu A, Dusunsel R, et al. Childhood vasculitides in Turkey: a nationwide survey. Clin Rheumatol. 2007;26(2):196-200. doi:10.1007/s10067-006-0266-6

Ozen S, Anton J, Arisoy N, et al. Juvenile polyarteritis: results of a multicenter survey of 110 children. J Pediatr. 2004;145(4):517-522. doi:10.1016/j.jpeds.2004.06.046

Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921-931. doi:10.1056/NEJMoa1307362

Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911-920. doi:10.1056/NEJMoa1307361

Eleftheriou D, Dillon MJ, Tullus K, et al. Systemic polyarteritis nodosa in the young: a single-center experience over thirty-two years. Arthritis Rheum. 2013;65(9):2476-2485. doi:10.1002/art.38024

Yalçinkaya F, Ozçakar ZB, Kasapçopur O, et al. Prevalence of the MEFV gene mutations in childhood polyarteritis nodosa. J Pediatr. 2007;151(6):675-678. doi:10.1016/j.jpeds.2007.04.062

Finkel T.H, Leung D.Y.M, Harbeck R.J, et al. Chronic parvovirus B19 infection and systemic necrotising vasculitis: opportunistic infection or aetiological agent? Lancet . 1994;343:1255–1258. doi.org/10.1016/S0140-6736(94)92152-0

Golden MP, Hammer SM, Wanke CA, Albrecht MA. Cytomegalovirus vasculitis. Case reports and review of the literature. Medicine (Baltimore). 1994;73(5):246-255.

Fain O, Hamidou M, Cacoub P, et al. Vasculitides associated with malignancies: analysis of sixty patients. Arthritis Rheum. 2007;57(8):1473-1480. doi:10.1002/art.23085

Fink CW. The role of the streptococcus in poststreptococcal reactive arthritis and childhood polyarteritis nodosa. J Rheumatol Suppl. 1991;29:14-20.

Guillevin L, Lhote F, Amouroux J, Gherardi R, Callard P, Casassus P. Antineutrophil cytoplasmic antibodies, abnormal angiograms and pathological findings in polyarteritis nodosa and Churg-Strauss syndrome: indications for the classification of vasculitides of the polyarteritis Nodosa Group. Br J Rheumatol. 1996;35(10):958-964. doi:10.1093/rheumatology/35.10.958

Mason J.C, Cowie M.R, Davies K.A, et al. Familial polyarteritis nodosa. Arthritis Rheum. 1994;37:1249–1253.

Ozen S, Ben-Chetrit E, Bakkaloglu A, et al. Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF?. Semin Arthritis Rheum. 2001;30(4):281-287. doi:10.1053/sarh.2001.19958

Forbess L, Bannykh S. Polyarteritis nodosa. Rheum Dis Clin North Am. 2015;41(1):33-vii. doi:10.1016/j.rdc.2014.09.005

Sönmez HE, Armağan B, Ayan G, et al. Polyarteritis nodosa: lessons from 25 years of experience. Clin Exp Rheumatol. 2019;37 Suppl 117(2):52-56.

Kobayashi H, Yokoe I, Hattan N, Ohta H, Nakajima Y, Kobayashi Y. Cardiac magnetic resonance imaging in polyarteritis nodosa. J Rheumatol. 2010;37(11):2427-2429. doi:10.3899/jrheum.100450

Pagnoux C, Seror R, Henegar C, et al. Clinical features and outcomes in 348 patients with polyarteritis nodosa: a systematic retrospective study of patients diagnosed between 1963 and 2005 and entered into the French Vasculitis Study Group Database. Arthritis Rheum. 2010;62(2):616-626. doi:10.1002/art.27240

Dillon MJ, Eleftheriou D, Brogan PA. Medium-size-vessel vasculitis. Pediatr Nephrol. 2010;25(9):1641-1652. doi:10.1007/s00467-009-1336-1

Forbess L. Polyarteritis nodosa and Cogan syndrome. In: Hochberg M.C, Gravallese E.M., Silman A.J.(eds). Rheumatology (7th ed) Philadelphia: Elsevier, 2019:1358-1367

Talukder MK, Islam MI, Rahman SA. Clinical and laboratory profile of childhood polyarteritis nodosa in a Bangladeshi tertiary hospital. Int J Rheum Dis. 2014;17(3):313-316. doi:10.1111/1756-185X.12319

Huang Z, Li T, Nigrovic PA, Lee PY. Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart. Clin Immunol. 2020;215:108411. doi:10.1016/j.clim.2020.108411

Hočevar A, Tomšič M, Perdan Pirkmajer K. Clinical Approach to Diagnosis and Therapy of Polyarteritis Nodosa. Curr Rheumatol Rep. 2021;23(3):14. Published 2021 Feb 10. doi:10.1007/s11926-021-00983-2

Singhal M, Gupta P, Sharma A, Lal A, Rathi M, Khandelwal N. Role of multidetector abdominal CT in the evaluation of abnormalities in polyarteritis nodosa. Clin Radiol. 2016;71(3):222-227. doi:10.1016/j.crad.2015.11.004

Stanson AW, Friese JL, Johnson CM, et al. Polyarteritis nodosa: spectrum of angiographic findings. Radiographics. 2001;21(1):151-159. doi:10.1148/radiographics.21.1.g01ja16151

Schmidt WA. Use of imaging studies in the diagnosis of vasculitis. Curr Rheumatol Rep. 2004;6(3):203-211. doi:10.1007/s11926-004-0069-1

de Graeff N, Groot N, Brogan P, et al. European consensus-based recommendations for the diagnosis and treatment of rare paediatric vasculitides - the SHARE initiative [published correction appears in Rheumatology (Oxford). 2020 Apr 1;59(4):919]. Rheumatology (Oxford). 2019;58(4):656-671. doi:10.1093/rheumatology/key322

Ozen S, Pistorio A, Iusan SM, et al. EULAR/PRINTO/PRES criteria for Henoch-Schönlein purpura, childhood polyarteritis nodosa, childhood Wegener granulomatosis and childhood Takayasu arteritis: Ankara 2008. Part II: Final classification criteria. Ann Rheum Dis. 2010;69(5):798-806. doi:10.1136/ard.2009.116657

Lightfoot RW Jr, Michel BA, Bloch DA, et al. The American College of Rheumatology 1990 criteria for the classification of polyarteritis nodosa. Arthritis Rheum. 1990;33(8):1088-1093. doi:10.1002/art.1780330805

Henegar C, Pagnoux C, Puéchal X, et al. A paradigm of diagnostic criteria for polyarteritis nodosa: analysis of a series of 949 patients with vasculitides. Arthritis Rheum. 2008;58(5):1528-1538. doi:10.1002/art.23470

Pagnoux C, Seror R, Henegar C, et al. Clinical features and outcomes in 348 patients with polyarteritis nodosa: a systematic retrospective study of patients diagnosed between 1963 and 2005 and entered into the French Vasculitis Study Group Database. Arthritis Rheum. 2010;62(2):616-626. doi:10.1002/art.27240

Chung SA, Gorelik M, Langford CA, et al. 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Polyarteritis Nodosa. Arthritis Rheumatol. 2021;73(8):1384-1393. doi:10.1002/art.41776

Eleftheriou D, Batu ED, Ozen S, Brogan PA. Vasculitis in children. Nephrol Dial Transplant. 2015;30 Suppl 1:i94-i103. doi:10.1093/ndt/gfu393

Eleftheriou D, Melo M, Marks SD, et al. Biologic therapy in primary systemic vasculitis of the young. Rheumatology (Oxford). 2009;48(8):978-986. doi:10.1093/rheumatology/kep148

Campanilho-Marques R, Ramos F, Canhão H, Fonseca JE. Remission induced by infliximab in a childhood polyarteritis nodosa refractory to conventional immunosuppression and rituximab. Joint Bone Spine. 2014;81(3):277-278. doi:10.1016/j.jbspin.2013.11.009

Guillevin L, Pagnoux C, Seror R, et al. The Five-Factor Score revisited: assessment of prognoses of systemic necrotizing vasculitides based on the French Vasculitis Study Group (FVSG) cohort. Medicine (Baltimore). 2011;90(1):19-27. doi:10.1097/MD.0b013e318205a4c6

Falcini F, La Torre F, Vittadello F, et al. Clinical overview and outcome in a cohort of children with polyarteritis nodosa. Clin Exp Rheumatol. 2014;32(3 Suppl 82):S134-S137.

Van Montfrans JM, Hartman EA, Braun KP, et al. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology (Oxford). 2016;55(5):902-910. doi:10.1093/rheumatology/kev439

Nanthapisal S, Murphy C, Omoyinmi E, et al. Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. Arthritis Rheumatol. 2016;68(9):2314-2322. doi:10.1002/art.39699

Jee H, Huang Z, Baxter S, et al. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. J Allergy Clin Immunol. 2022;149(1):379-387. doi:10.1016/j.jaci.2021.04.034

Kastnet D, Barron KB. Periodic Fever Syndromes and Other Inherited Autoinflammatory. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn L,Mellins ED, Fuhlbrigge RC (eds). Textbook of Pediatric Rheumatology (8th ed). Philadelphia: Elsevier, 2021:525-543

Hashem H, Kelly SJ, Ganson NJ, Hershfield MS. Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders. Curr Rheumatol Rep. 2017;19(11):70. Published 2017 Oct 5. doi:10.1007/s11926-017-0699-8

Lee PY, Huang Z, Hershfield MS, Nigrovic PA. Response to: 'Total adenosine deaminase highly correlated with adenosine deaminase 2 activity in serum' by Gao et al. Ann Rheum Dis. 2022 ve doi:10.1136/annrheumdis-2020-217055, 81(2):e31.

Ombrello AK, Qin J, Hoffmann PM, et al. Treatment Strategies for Deficiency of Adenosine Deaminase 2. N Engl J Med. 2019;380(16):1582-1584. doi:10.1056/NEJMc1801927

Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment. J Clin Immunol. 2018;38(5):569-578. doi:10.1007/s10875-018-0525-8

Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I. Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. Immunol Rev. 2019;287(1):62-72. doi:10.1111/imr.12722

Batu ED, Karadag O, Taskiran EZ, et al. A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations. J Rheumatol. 2015;42(8):1532-1534. doi:10.3899/jrheum.150024

Uettwiller F, Sarrabay G, Rodero MP, et al. ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. RMD Open. 2016;2(1):e000236. Published 2016 May 16. doi:10.1136/rmdopen-2015-000236

Van Eyck L Jr, Hershfield MS, Pombal D, et al. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. J Allergy Clin Immunol. 2015;135(1):283-7.e5. doi:10.1016/j.jaci.2014.10.010

Lee PY, Kellner ES, Huang Y, et al. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol. 2020;145(6):1664-1672.e10. doi:10.1016/j.jaci.2019.12.908

Schepp J, Proietti M, Frede N, et al. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. Arthritis Rheumatol. 2017;69(8):1689-1700. doi:10.1002/art.40147

Yap JY, Moens L, Lin MW, et al. Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency. J Clin Immunol. 2021;41(8):1915-1935. doi:10.1007/s10875-021-01141-0

Alsultan A, Basher E, Alqanatish J, Mohammed R, Alfadhel M. Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. Pediatr Blood Cancer. 2018;65(4):10.1002/pbc.26912. doi:10.1002/pbc.26912

Schepp J, Bulashevska A, Mannhardt-Laakmann W, et al. Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency. J Clin Immunol. 2016;36(3):179-186. doi:10.1007/s10875-016-0245-x

Ben-Ami T, Revel-Vilk S, Brooks R, et al. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. J Pediatr. 2016;177:316-320. doi:10.1016/j.jpeds.2016.06.058

Hashem H, Egler R, Dalal J. Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2. J Pediatr Hematol Oncol. 2017;39(5):e293-e296. doi:10.1097/MPH.0000000000000805

Ghadir S. Sasa, M. Tarek Elghetany, Katie Bergstrom, Sarah Nicholas, Ryan Himes, Robert A. Krance, Michael Hershfield, Joris van Montfrans, Alison Bertuch; Adenosine Deaminase 2 Deficiency As a Cause of Pure Red Cell Aplasia Mimicking Diamond Blackfan Anemia. Blood 2015; 126 (23): 3615. doi: https://doi.org/10.1182/blood.V126.23.3615.3615

Sundin M, Marits P, Nierkens S, Kolios AGA, Nilsson J. "Immune" Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implication on Differential Diagnostics of ITP in Children. J Pediatr Hematol Oncol. 2019;41(2):155.

Özen S, Batu ED, Taşkıran EZ, et al. A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2. J Rheumatol. 2020;47(1):117-125. doi:10.3899/jrheum.181384

Kohn DB, Hershfield MS, Puck JM, et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019;143(3):852-863. doi:10.1016/j.jaci.2018.08.024