Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency

REFERENCES

1. 1.↵
   1. Zhou Q,
   2. Yang D,
   3. Ombrello AK,
   4. Zavialov AV,
   5. Toro C,
   6. Zavialov AV,
   7. et al.

   Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370:911–20.

   OpenUrlCrossRefPubMed
2. 2.↵
   1. Navon EP,
   2. Pierce SB,
   3. Segel R,
   4. Walsh T,
   5. Barash J,
   6. Padeh S,
   7. et al.

   Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014;370:921–31.

   OpenUrlCrossRefPubMed
3. 3.↵
   1. Caorsi R,
   2. Penco F,
   3. Grossi A,
   4. Insalaco A,
   5. Omenetti A,
   6. Alessio M,
   7. et al.

   ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis 2017;76:1648–56.

   OpenUrlAbstract/FREE Full Text
4. 4.↵
   1. Rice GI,
   2. Forte GM,
   3. Szynkiewicz M,
   4. Chase DS,
   5. Aeby A,
   6. Abdel-Hamid MS,
   7. et al.

   Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol 2013;12:1159–69.

   OpenUrlCrossRefPubMed
5. 5.↵
   1. Rice GI,
   2. Melki I,
   3. Frèmond ML,
   4. Briggs TA,
   5. Rodero MP,
   6. Kitabayashi N,
   7. et al.

   Assessment of Type I interferon signalling in pediatric inflammatory disease. J Clin Immunol 2017;37:123–32.

   OpenUrlCrossRef
6. 6.↵
   1. Groom JR,
   2. Luster AD

   . CXCR3 ligands: redundant, collaborative and antagonistic functions. Immunol Cell Biol 2011;89:207–15.

   OpenUrlCrossRefPubMed
7. 7.↵
   1. Uettwiller F,
   2. Sarrabay G,
   3. Rodero MP,
   4. Rice GI,
   5. Lagrue E,
   6. Marot Y,
   7. et al.

   ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters. RMD Open 2016;2: e000236.

   OpenUrlAbstract/FREE Full Text
8. 8.↵
   1. Kaljas Y,
   2. Liu C,
   3. Skaldin M,
   4. Wu C,
   5. Zhou Q,
   6. Lu Y,
   7. et al.

   Human adenosindeaminases ADA1 and ADA2 bind to different subsets of immune cells. Cell Mol Life Sci 2017;74:555–70.

   OpenUrlPubMed
9. 9.↵
   1. Schepp J,
   2. Bulashevska A,
   3. Mannhardt-Laakmann W,
   4. Cao H,
   5. Yang F,
   6. Seidl M,
   7. et al.

   Deficiency of adenosine deaminase 2 causes antibody deficiency. J Clin Immunol 2016;36:179–86.

   OpenUrlCrossRefPubMed
10. 10.↵
    1. Zavialov AV,
    2. Yu X,
    3. Spillmann D,
    4. Lauvau G,
    5. Zavialov AV

    . Structural basis for the growth factor activity of human adenosine deaminase ADA2. J Biol Chem 2010;285:12367–77.

    OpenUrlAbstract/FREE Full Text
11. 11.↵
    1. Hashem H,
    2. Egler R,
    3. Dalal J

    . Refractory pure red cell aplasia manifesting as deficiency of adenosine deaminase 2. J Pediatr Hematol Oncol 2017;39:293–6.

    OpenUrl
12. 12.↵
    1. Van Montfrans JM,
    2. Hartman EA,
    3. Braun KP,
    4. Hennekam EA,
    5. Hak EA,
    6. Nederkoorn PJ,
    7. et al.

    Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology 2016;55:902–10.

    OpenUrlCrossRefPubMed
13. 13.↵
    1. Schepp J,
    2. Proietti M,
    3. Frede N,
    4. Buchta M,
    5. Hübscher K,
    6. Rojas Restrepo J,
    7. 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;69:1689–700.

    OpenUrl
14. 14.↵
    1. Nanthapisal S,
    2. Murphy C,
    3. Omoyinmi E,
    4. Hong Y,
    5. Standing A,
    6. Berg S,
    7. et al.

    Deficiency of adenosine deaminase type 2: a description of phenotype and genotype in fifteen cases. Arthritis Rheumatol 2016;68:2314–22.

    OpenUrl
15. 15.↵
    1. Baechler EC,
    2. Batliwalla FM,
    3. Karypis G,
    4. Gaffney PM,
    5. Ortmann WA,
    6. Espe KJ,
    7. et al.

    Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A 2003;100:2610–5.

    OpenUrlAbstract/FREE Full Text
16. 16.↵
    1. Niewold TB,
    2. Kariuki SN,
    3. Morgan GA,
    4. Shrestha S,
    5. Pachman LM

    . Elevated serum interferon-alpha activity in juvenile dermatomyositis: associations with disease activity at diagnosis and after thirty-six months of therapy. Arthritis Rheum 2009;60:1815–24.

    OpenUrlCrossRefPubMed
17. 17.↵
    1. Skral-Baumgartner A,
    2. Plecko B,
    3. Schimdt WM,
    4. Konig N,
    5. Hershfield M,
    6. Gruber-Sedlmayr U,
    7. et al.

    Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation. Pediatr Rheumathol Online J 2017;15:67.

    OpenUrl
18. 18.↵
    1. Cantaert T,
    2. Baeten D,
    3. Tak PP,
    4. van Baarsen LG

    . Type I IFN and TNFα cross-regulation in immune-mediated inflammatory disease: basic concepts and clinical relevance. Arthritis Res Ther 2010;12:219.

    OpenUrlCrossRefPubMed
19. 19.↵
    1. Meyts I,
    2. Aksentijevich I

    . Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol 2018;38:569–78.

    OpenUrl