Skip to main content

Advertisement

SpringerLink
Log in

Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes

  • Review Article
  • Published:
Rheumatology International Aims and scope Submit manuscript

Abstract

Monogenic autoinflammatory syndromes are a rare group of disorders characterized by periodic episodes of systemic inflammation of endogenous origin. Sometimes, these diseases may present with features akin to vasculitis. We conducted a literature review on such vasculitic manifestations in described monogenic autoinflammatory syndromes utilizing the Online Mendelian Inheritance in Man (OMIM), Medline, and Scopus databases. Our search identified that Familial Mediterranean fever (FMF) can manifest with features of either small, medium, large, or variable-vessel vasculitis. Stimulator of interferon gene (STING)-associated vasculopathy of infancy (SAVI) is an interferonopathy that can mimic the presentation of medium-vessel or small-vessel vasculitis, whereas deficiency of adenosine deaminase 2 (DADA2) is another such mimic of medium-vessel vasculitis, associated in a significant number of patients with features of immunodeficiency. Occasional reports exist of vasculitic manifestations in tumor necrosis factor (TNF) receptor-associated periodic fever syndrome (TRAPS) and chronic infantile neurologic cutaneous and articular disorder (CINCA), whereas mevalonate kinase deficiency can also mimic the presentation of small- or medium-vessel vasculitis. Clinicians should be aware of the possibility of autoinflammatory disease presenting as vasculitis to diagnose and treat the same appropriately.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Abbreviations

AAV:

ANCA-associated small-vessel vasculitis

AIS:

Autoinflammatory syndromes

ANCA:

Anti-neutrophil cytoplasmic antibodies

AZA:

Azathioprine

BD:

Behcet’s disease

CIAS1:

Cold induced autoinflammatory syndrome 1

CINCA:

Chronic infantile neurologic cutaneous and articular disease

CRP:

C-reactive protein

DADA2:

Deficiency of adenosine deaminase 2

DIRA:

Deficiency of IL-1 receptor antagonist

FMF:

Familial Mediterranean fever

GI:

Gastrointestinal

GPA:

Granulomatosis with polyangiitis

HBV:

Hepatitis B virus

HIDS:

Hyper IgD syndrome

IgAV:

Immunoglobulin A vasculitis

IFN:

Interferon

IL:

Interleukin

IVIG:

Intravenous immunoglobulin

KD:

Kawasaki’s disease

LVV:

Large-vessel vasculitis

MEFV:

Mediterranean fever gene

MKD:

Mevalonate kinase deficiency

MPA:

Microscopic polyangiitis

NFκB:

Nuclear factor kappa B

NOMID:

Neonatal onset multisystemic inflammatory disorder

OMIM:

Online Mendelian Inheritance in Man

PAN:

Polyarteritis nodosa

PAAND:

Pyrin-associated autoinflammation with neutrophilic dermatosis

PAPA:

Pyogenic arthritis, pyoderma gangrenosum and acne syndrome

PBMC:

Peripheral blood mononuclear cells

PFM:

Protracted febrile myalgia

PSTPIP1:

Proline serine threonine phosphatase interacting protein 1

SAVI:

STING-associated vasculopathy of infancy

STING:

Stimulator of interferon genes

TA:

Takayasu’s arteritis

TNF:

Tumor necrosis factor

TNF-α:

Tumor necrosis factor alpha

TNFAIP3:

TNF-α-induced protein 3

TNFRSF1A:

TNF receptor superfamily 1 A

TRAPS:

TNF receptor-associated periodic syndrome

References

  1. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL (2017) The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol 18:832–842. doi:10.1038/ni.3777

    Article  CAS  PubMed  Google Scholar 

  2. Jamilloux Y, Belot A, Magnotti F et al (2017) Geoepidemiology and immunologic features of autoinflammatory diseases: a comprehensive review. Clin Rev Allergy Immunol. doi:10.1007/s12016-017-8613-8

    PubMed  Google Scholar 

  3. Jennette JC, Falk RJ, Bacon PA et al (2013) 2012 revised international chapel hill consensus conference nomenclature of vasculitides. Arthritis Rheumatol 65:1–11. doi:10.1002/art.37715

    Article  CAS  Google Scholar 

  4. Liu Y, Jesus AA, Marrero B et al (2014) Activated STING in a vascular and pulmonary syndrome. N Engl J Med 371:507–518. doi:10.1056/NEJMoa1312625

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  PubMed  Google Scholar 

  6. Federici S, Sormani MP, Ozen S et al (2015) Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 74:799–805. doi:10.1136/annrheumdis-2014-206580

    Article  PubMed  Google Scholar 

  7. Gul A (2015) Pathogenesis of Behcet’s disease: autoinflammatory features and beyond. Semin Immunopathol 37:413–418. doi:10.1007/s00281-015-0502-8

    Article  PubMed  Google Scholar 

  8. Gasparyan AY, Ayvazyan L, Blackmore H, Kitas GD (2011) Writing a narrative biomedical review: considerations for authors, peer reviewers, and editors. Rheumatol Int 31:1409–1417. doi:10.1007/s00296-011-1999-3

    Article  PubMed  Google Scholar 

  9. Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 43:227–253

    Article  CAS  PubMed  Google Scholar 

  10. Schlesinger M, Kopolovic J, Viskoper RJ, Ron N (1983) A case of Familial Mediterranean fever with cutaneous vasculitis and immune complex nephritis: light, electron, and immunofluorescent study of renal biopsy. Am J Clin Pathol 80:511–514

    Article  CAS  PubMed  Google Scholar 

  11. Sachs D, Langevitz P, Morag B, Pras M (1987) Polyarteritis nodosa and Familial Mediterranean fever. Br J Rheumatol 26:139–141

    Article  CAS  PubMed  Google Scholar 

  12. Glikson M, Galun E, Schlesinger M et al (1989) Polyarteritis nodosa and Familial Mediterranean fever: a report of 2 cases and review of the literature. J Rheumatol 16:536–539

    CAS  PubMed  Google Scholar 

  13. Henckes M, Roskams T, Vanneste S, Van Damme B, Vanrenterghem Y (1994) Polyarteritis nodosa type vasculitis in a patient with Familial Mediterranean fever treated with cyclosporin A. Transpl Int 7:292–296

    Article  CAS  PubMed  Google Scholar 

  14. Kocak H, Cakar N, Hekimoglu B et al (1996) The coexistence of Familial Mediterranean fever and polyarteritis nodosa; report of a case. Pediatr Nephrol 10:631–633

    Article  CAS  PubMed  Google Scholar 

  15. Ozdogan H, Arisoy N, Kasapcapur O et al (1997) Vasculitis in Familial Mediterranean fever. J Rheumatol 24:323–327

    CAS  PubMed  Google Scholar 

  16. Serrano R, Martinez MA, Andres A, Morales JM, Samartin R (1998) Familial mediterranean fever and acute myocardial infarction secondary to coronary vasculitis. Histopathology 33:163–167

    Article  CAS  PubMed  Google Scholar 

  17. Tekin M, Yalcinkaya F, Tumer N et al (2000) Clinical, laboratory and molecular characteristics of children with Familial Mediterranean fever-associated vasculitis. Acta Paediatr 89:177–182

    Article  CAS  PubMed  Google Scholar 

  18. Ozen S, Bakkaloglu A, Yilmaz E et al (2003) Mutations in the gene for Familial Mediterranean fever: do they predispose to inflammation? J Rheumatol 30:2014–2018

    CAS  PubMed  Google Scholar 

  19. Bosacki C, Richard O, Freycon F, Mosnier JF, Cathebras P (2003) The association of polyarteritis nodosa and Familial Mediterranean fever. Presse Med 32:24–26

    CAS  PubMed  Google Scholar 

  20. Braun E, Schapira D, Guralnik L, Azzam ZS (2003) Acute vasculitis with multiorgan involvement in a patient with Familial Mediterranean fever. Am J Med Sci 325:363–364

    Article  PubMed  Google Scholar 

  21. Hatemi G, Masatlioglu S, Gogus F, Ozdogan H (2004) Necrotizing vasculitis associated with Familial Mediterranean fever. Am J Med 117:516–519. doi:10.1016/j.amjmed.2004.02.050

    Article  PubMed  Google Scholar 

  22. Topaloglu R, Ozaltin F, Yilmaz E et al (2005) E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with Familial Mediterranean fever. Ann Rheum Dis 64:750–752. doi:10.1136/ard.2004.026963

    Article  CAS  PubMed  Google Scholar 

  23. Ozkaya O, Bek K, Alaca N et al (2007) Cerebral vasculitis in a child with Henoch-Schonlein purpura and Familial Mediterranean fever. Clin Rheumatol 26:1729–1732. doi:10.1007/s10067-006-0485-x

    Article  PubMed  Google Scholar 

  24. Balbir-Gurman A, Nahir AM, Braun-Moscovici Y (2007) Vasculitis in siblings with Familial Mediterranean fever: a report of three cases and review of the literature. Clin Rheumatol 26:1183–1185. doi:10.1007/s10067-006-0323-1

    Article  PubMed  Google Scholar 

  25. Kone-Paut I, Hentgen V, Guillaume-Czitrom S et al (2009) The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford) 48:840–842. doi:10.1093/rheumatology/kep121

    Article  CAS  Google Scholar 

  26. Zihni FY, Kalfa M, Ocakçi PT et al (2012) Coexistence of Takayasu’s arteritis with Familial Mediterranean fever. Rheumatol Int 32:1675–1678. doi:10.1007/s00296-011-1853-7

    Article  PubMed  Google Scholar 

  27. Luger S, Harter PN, Mittelbronn M, Wagner M, Foerch C (2013) Brain stem infarction associated with Familial Mediterranean fever and central nervous system vasculitis. Clin Exp Rheumatol 31:93–95

    PubMed  Google Scholar 

  28. Ebrahimi-Fakhari D, Schonland SO, Hegenbart U et al (2013) Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk. Scand J Rheumatol 42:52–58. doi:10.3109/03009742.2012.714796

    Article  CAS  PubMed  Google Scholar 

  29. Moradian MM, Sarkisian T, Amaryan G et al (2014) Patient management and the association of less common Familial Mediterranean fever symptoms with other disorders. Genet Med 16:258–263. doi:10.1038/gim.2013.112

    Article  PubMed  Google Scholar 

  30. Komatsu S, Honma M, Igawa S et al (2014) Cutaneous necrotizing vasculitis as a manifestation of Familial Mediterranean fever. J Dermatol. doi:10.1111/1346-8138.12588

    Google Scholar 

  31. Taylan A, Yildiz Y, Sari I, Ozkok G (2014) Vasculitis and long standing ankylosing spondylitis in a patient with Familial Mediterranean fever. J Res Med Sci 19:1009–1011

    PubMed  PubMed Central  Google Scholar 

  32. Jarjour RA, Al-Berrawi S (2015) Familial Mediterranean fever in Syrian children: phenotype-genotype correlation. Rheumatol Int 35:629–634. doi:10.1007/s00296-014-3116-x

    Article  PubMed  Google Scholar 

  33. Amaryan G, Sarkisian T, Tadevosyan A (2015) Clinical and genetic peculiarities of vasculitis associated with Familial Mediterranean fever in Armenian children. Pediatr Rheumatol Online J 13:P91–P91. doi:10.1186/1546-0096-13-S1-P91

    Article  PubMed Central  Google Scholar 

  34. Abbara S, Fain O, Saadoun D et al (2015) Vasculitis associated with familial Mediterranean fever: a study on 16 French adult cases. Pediatr Rheumatol Online J 13:P128–P128. doi:10.1186/1546-0096-13-S1-P128

    Article  PubMed Central  Google Scholar 

  35. Ugan Y, Dogru A, Sencan H, Sahin M, Ercan Tunc S (2016) Sacroiliitis and polyarteritis nodosa in a patient with Familial Mediterranean fever. Case Rep Med 2016:5134546. doi:10.1155/2016/5134546

    Article  PubMed  PubMed Central  Google Scholar 

  36. Ozcakar ZB, Cakar N, Uncu N, Celikel BA, Yalcinkaya F (2017) Familial Mediterranean fever-associated diseases in children. QJM 110:287–290. doi:10.1093/qjmed/hcw230

    CAS  PubMed  Google Scholar 

  37. Luger S, Harter PN, Mittelbronn M, Wagner M, Foerch C (2013) Brain stem infarction associated with Familial mediterranean fever and central nervous system vasculitis. Clin Exp Rheumatol 31:S93–S95

    Google Scholar 

  38. Masters SL, Lagou V, Jéru I et al (2016) Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl Med 8:332ra45. doi:10.1126/scitranslmed.aaf1471

    Article  PubMed  Google Scholar 

  39. Cashen K, Kamat D (2009) Recurrent fever and rash. Clin Pediatr (Phila) 48:679–682. doi:10.1177/0009922809333090

    Article  Google Scholar 

  40. Lamprecht P, Moosig F, Adam-Klages S et al (2004) Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS). Ann Rheum Dis 63:1518–1520. doi:10.1136/ard.2003.016733

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Hernandez-Rodriguez J, Ruiz-Ortiz E, Tome A et al (2016) Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center. Autoimmun Rev 15:9–15. doi:10.1016/j.autrev.2015.08.008

    Article  PubMed  Google Scholar 

  42. Zhou Q, Wang H, Schwartz DM et al (2016) Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet 48:67–73. doi:10.1038/ng.3459

    Article  CAS  PubMed  Google Scholar 

  43. Zhou Q, Yu X, Demirkaya E et al (2016) Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci USA 113:10127–10132. doi:10.1073/pnas.1612594113

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Kolivras A, Theunis A, Ferster A et al (2011) Cryopyrin-associated periodic syndrome: an autoinflammatory disease manifested as neutrophilic urticarial dermatosis with additional perieccrine involvement. J Cutan Pathol 38:202–208. doi:10.1111/j.1600-0560.2010.01638.x

    Article  PubMed  Google Scholar 

  45. Russo RA, Katsicas MM (2001) Chronic infantile neurological cutaneous and articular syndrome: two new cases with rare manifestations. Acta Paediatr 90:1076–1079

    Article  CAS  PubMed  Google Scholar 

  46. Khemani C, Khubchandani R (2007) CINCA syndrome. Indian Pediatr 44:933–936

    PubMed  Google Scholar 

  47. Dollfus H, Hafner R, Hofmann HM et al (2000) Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol 118:1386–1392

    Article  CAS  PubMed  Google Scholar 

  48. Niv D, Ramirez JA, Fivenson DP (2017) Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome with recurrent vasculitis. JAAD Case Rep 3:70–73. doi:10.1016/j.jdcr.2016.11.006

    Article  PubMed  PubMed Central  Google Scholar 

  49. Khatibi K, Heit JJ, Telischak NA, Elbers JM, Do HM (2016) Cerebral vascular findings in PAPA syndrome: cerebral arterial vasculopathy or vasculitis and a posterior cerebral artery dissecting aneurysm. J Neurointerv Surg 8:e29. doi:10.1136/neurintsurg-2015-011753.rep

    Article  PubMed  Google Scholar 

  50. Shepherd J, Nicklin MJ (2005) Elastic-vessel arteritis in interleukin-1 receptor antagonist-deficient mice involves effector Th1 cells and requires interleukin-1 receptor. Circulation 111:3135–3140. doi:10.1161/circulationaha.104.519132

    Article  CAS  PubMed  Google Scholar 

  51. Nicklin MJ, Hughes DE, Barton JL, Ure JM, Duff GW (2000) Arterial inflammation in mice lacking the interleukin 1 receptor antagonist gene. J Exp Med 191:303–312

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  52. Matsuki T, Isoda K, Horai R et al (2005) Involvement of tumor necrosis factor-alpha in the development of T cell-dependent aortitis in interleukin-1 receptor antagonist-deficient mice. Circulation 112:1323–1331. doi:10.1161/circulationaha.105.564658

    Article  CAS  PubMed  Google Scholar 

  53. Pace S, Bingham J, Royer M (2015) Histopathologic features in a case of hyperimmunoglobulinemia D syndrome. Indian Dermatol Online J 6:S33–S36. doi:10.4103/2229-5178.171059

    Article  PubMed  PubMed Central  Google Scholar 

  54. Berody S, Galeotti C, Kone-Paut I, Piram M (2015) A retrospective survey of patients’ journey before the diagnosis of mevalonate kinase deficiency. Joint Bone Spine 82:240–244. doi:10.1016/j.jbspin.2014.12.011

    Article  PubMed  Google Scholar 

  55. Durel CA, Aouba A, Bienvenu B et al (2016) Observational study of a French and Belgian multicenter cohort of 23 patients diagnosed in adulthood with mevalonate kinase deficiency. Medicine (Baltimore) 95:e3027. doi:10.1097/md.0000000000003027

    Article  CAS  Google Scholar 

  56. Kaustio M, Haapaniemi E, Göös H et al (2016) Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes. J Allergy Clin Immunol 140:782–796

    Article  Google Scholar 

  57. Jeremiah N, Neven B, Gentili M et al (2014) Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Investig 124:5516–5520. doi:10.1172/jci79100

    Article  PubMed  PubMed Central  Google Scholar 

  58. Omoyinmi E, Melo Gomes S, Nanthapisal S et al (2015) Stimulator of interferon genes-associated vasculitis of infancy. Arthritis Rheumatol 67:808. doi:10.1002/art.38998

    Article  PubMed  Google Scholar 

  59. Munoz J, Rodiere M, Jeremiah N et al (2015) Stimulator of interferon genes-associated vasculopathy with onset in infancy: a mimic of childhood granulomatosis with polyangiitis. JAMA Dermatol 151:872–877. doi:10.1001/jamadermatol.2015.0251

    Article  PubMed  Google Scholar 

  60. Picard C, Thouvenin G, Kannengiesser C et al (2016) Severe pulmonary fibrosis as the first manifestation of interferonopathy (TMEM173 mutation). Chest 150:e65–e71. doi:10.1016/j.chest.2016.02.682

    Article  PubMed  Google Scholar 

  61. Chia J, Eroglu FK, Ozen S et al (2016) Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy. J Am Acad Dermatol 74:186–189. doi:10.1016/j.jaad.2015.10.007

    Article  PubMed  Google Scholar 

  62. Kalunian KC (2016) Interferon-targeted therapy in systemic lupus erythematosus: is this an alternative to targeting B and T cells? Lupus 25:1097–1101. doi:10.1177/0961203316652495

    Article  CAS  PubMed  Google Scholar 

  63. Caorsi R, Penco F, Schena F, Gattorno M (2016) Monogenic polyarteritis: the lesson of ADA2 deficiency. Pediatr Rheumatol Online J 14:51. doi:10.1186/s12969-016-0111-7

    Article  PubMed  PubMed Central  Google Scholar 

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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  65. Batu ED, Karadag O, Taskiran EZ et al (2015) A case series of adenosine deaminase 2-deficient patients emphasizing treatment and genotype-phenotype correlations. J Rheumatol 42:1532–1534. doi:10.3899/jrheum.150024

    Article  CAS  PubMed  Google Scholar 

  66. Schepp J, Proietti M, Frede N et al (2017) Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood. Arthritis Rheumatol 69:1689–1700. doi:10.1002/art.40147

    Article  CAS  PubMed  Google Scholar 

  67. Nanthapisal S, Murphy C, Omoyinmi E et al (2016) Deficiency of adenosine deaminase type 2: a description of phenotype and genotype in fifteen cases. Arthritis Rheumatol 68:2314–2322. doi:10.1002/art.39699

    Article  CAS  PubMed  Google Scholar 

  68. Ben-Ami T, Revel-Vilk S, Brooks R et al (2016) Extending the clinical phenotype of adenosine deaminase 2 deficiency. J Pediatr 177:316–320. doi:10.1016/j.jpeds.2016.06.058

    Article  CAS  PubMed  Google Scholar 

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

    Article  Google Scholar 

  70. Sahin S, Adrovic A, Barut K et al (2017) Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency. Rheumatol Int. doi:10.1007/s00296-017-3740-3

    Google Scholar 

  71. Caorsi R, Penco F, Grossi A et al (2017) ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis. doi:10.1136/annrheumdis-2016-210802

    Google Scholar 

  72. Garg N, Kasapcopur O, Foster J 2nd et al (2014) Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr 173:827–830. doi:10.1007/s00431-014-2320-8

    Article  PubMed  Google Scholar 

  73. Van Eyck L Jr, Hershfield MS, Pombal D et al (2015) Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. J Allergy Clin Immunol 135(283–287):e285. doi:10.1016/j.jaci.2014.10.010

    Google Scholar 

  74. Gonzalez Santiago TM, Zavialov A, Saarela J et al (2015) Dermatologic features of ADA2 deficiency in cutaneous polyarteritis nodosa. JAMA Dermatol 151:1230–1234. doi:10.1001/jamadermatol.2015.1635

    Article  PubMed  Google Scholar 

  75. Fellmann F, Angelini F, Wassenberg J et al (2016) IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. J Allergy Clin Immunol 137(1189–1196):e1181–e1182. doi:10.1016/j.jaci.2015.07.053

    Google Scholar 

  76. Elbracht M, Mull M, Wagner N et al (2017) Stroke as initial manifestation of adenosine deaminase 2 deficiency. Neuropediatrics 48:111–114. doi:10.1055/s-0036-1597611

    CAS  PubMed  Google Scholar 

  77. Hsu AP, West RR, Calvo KR et al (2016) Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation. J Allergy Clin Immunol 138(628–630):e622. doi:10.1016/j.jaci.2016.03.016

    Google Scholar 

  78. Poswar Fde O, da Fonseca RM, de Albuquerque LC et al (2016) Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. J Neurol 263:818–820. doi:10.1007/s00415-016-8070-y

    Article  PubMed  Google Scholar 

  79. Nihira H, Nakagawa K, Izawa K et al (2017) Fever of unknown origin with rashes in early infancy is indicative of adenosine deaminase type 2 deficiency. Scand J Rheumatol. doi:10.1080/03009742.2017.1324912

    PubMed  Google Scholar 

  80. Hashem H, Egler R, Dalal J (2017) Refractory pure red cell aplasia manifesting as deficiency of adenosine deaminase 2. J Pediatr Hematol Oncol 39:e293–e296. doi:10.1097/mph.0000000000000805

    Article  PubMed  Google Scholar 

  81. Ginsberg S, Rosner I, Rozenbaum M et al (2016) Autoinflammatory associated vasculitis. Semin Arthritis Rheum 46:367–371. doi:10.1016/j.semarthrit.2016.07.007

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

None.

Author information

Authors and Affiliations

  1. Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, 226014, India

    Avinash Jain, Durga Prasanna Misra & Vikas Agarwal

  2. Clinical Immunology and Rheumatology Services, Department of Internal Medicine, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012, India

    Aman Sharma

  3. Department of Rheumatology, King George’s Medical University, Lucknow, 226003, India

    Anupam Wakhlu

  4. Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India

    Vir Singh Negi

Authors
  1. Avinash Jain
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Durga Prasanna Misra
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Aman Sharma
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Anupam Wakhlu
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Vikas Agarwal
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Vir Singh Negi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Durga Prasanna Misra.

Ethics declarations

No sentence, paragraph, or figure used in this paper was copied from any source.

Funding

No funding was received for this study.

Conflict of interest

Avinash Jain, Durga Prasanna Misra, Aman Sharma, Anupam Wakhlu, Vikas Agarwal, and Vir Singh Negi declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 130 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Jain, A., Misra, D.P., Sharma, A. et al. Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. Rheumatol Int 38, 13–24 (2018). https://doi.org/10.1007/s00296-017-3839-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00296-017-3839-6

Keywords

Search

Navigation