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Systemic autoinflammation

MedGen UID:
863507
•Concept ID:
C4015070
•
Pathologic Function
Synonym: Autoinflammation, systemic
 
HPO: HP:0033428

Definition

Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Systemic autoinflammation

Professional guidelines

PubMed

Cold Urticaria Syndromes: Diagnosis and Management.
Diaz VL, Gribbons KB, Yazdi-Nejad K, Kuemmerle-Deschner J, Wanderer AA, Broderick L, Hoffman HM
J Allergy Clin Immunol Pract 2023 Aug;11(8):2275-2285. Epub 2023 Jun 7 doi: 10.1016/j.jaip.2023.05.040. PMID: 37290539
PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment.
Cugno M, Borghi A, Marzano AV
Am J Clin Dermatol 2017 Aug;18(4):555-562. doi: 10.1007/s40257-017-0265-1. PMID: 28236224
Pyoderma Gangrenosum: An Update on Pathophysiology, Diagnosis and Treatment.
Alavi A, French LE, Davis MD, Brassard A, Kirsner RS
Am J Clin Dermatol 2017 Jun;18(3):355-372. doi: 10.1007/s40257-017-0251-7. PMID: 28224502

Recent clinical studies

Etiology

Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM
Blood 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. PMID: 37084382Free PMC Article
Increased cardiovascular comorbidities in patients with myelodysplastic syndromes and chronic myelomonocytic leukemia presenting with systemic inflammatory and autoimmune manifestations.
Kipfer B, Daikeler T, Kuchen S, Hallal M, Andina N, Allam R, Bonadies N
Semin Hematol 2018 Oct;55(4):242-247. Epub 2018 May 28 doi: 10.1053/j.seminhematol.2018.05.002. PMID: 30502853
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A
Mol Genet Metab 2017 Nov;122(3):134-139. Epub 2017 Jul 20 doi: 10.1016/j.ymgme.2017.07.006. PMID: 28739201Free PMC Article
Type I interferonopathies--an expanding disease spectrum of immunodysregulation.
Lee-Kirsch MA, Wolf C, Kretschmer S, Roers A
Semin Immunopathol 2015 Jul;37(4):349-57. Epub 2015 May 22 doi: 10.1007/s00281-015-0500-x. PMID: 25998914

Diagnosis

Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome.
Kataoka A, Mizumoto C, Kanda J, Iwasaki M, Sakurada M, Oka T, Fujimoto M, Yamamoto Y, Yamashita K, Nannya Y, Ogawa S, Takaori-Kondo A
Int J Hematol 2023 Jun;117(6):919-924. Epub 2023 Jan 14 doi: 10.1007/s12185-023-03532-y. PMID: 36641501
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.
Kashani P, Marwaha A, Feanny S, Kim VH, Atkinson AR, Leon-Ponte M, Mendoza-Londono R, Grunebaum E
Immunol Res 2021 Feb;69(1):53-58. Epub 2021 Jan 6 doi: 10.1007/s12026-020-09168-y. PMID: 33405195
Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.
Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S
Pediatr Rheumatol Online J 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9. PMID: 31046790Free PMC Article
Increased cardiovascular comorbidities in patients with myelodysplastic syndromes and chronic myelomonocytic leukemia presenting with systemic inflammatory and autoimmune manifestations.
Kipfer B, Daikeler T, Kuchen S, Hallal M, Andina N, Allam R, Bonadies N
Semin Hematol 2018 Oct;55(4):242-247. Epub 2018 May 28 doi: 10.1053/j.seminhematol.2018.05.002. PMID: 30502853
Systemic autoinflammation with intractable epilepsy managed with interleukin-1 blockade.
DeSena AD, Do T, Schulert GS
J Neuroinflammation 2018 Feb 9;15(1):38. doi: 10.1186/s12974-018-1063-2. PMID: 29426321Free PMC Article

Therapy

Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome.
Kataoka A, Mizumoto C, Kanda J, Iwasaki M, Sakurada M, Oka T, Fujimoto M, Yamamoto Y, Yamashita K, Nannya Y, Ogawa S, Takaori-Kondo A
Int J Hematol 2023 Jun;117(6):919-924. Epub 2023 Jan 14 doi: 10.1007/s12185-023-03532-y. PMID: 36641501
Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.
He T, Xia Y, Yang J
Pediatr Rheumatol Online J 2021 Jan 22;19(1):9. doi: 10.1186/s12969-021-00497-2. PMID: 33482855Free PMC Article
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.
Kashani P, Marwaha A, Feanny S, Kim VH, Atkinson AR, Leon-Ponte M, Mendoza-Londono R, Grunebaum E
Immunol Res 2021 Feb;69(1):53-58. Epub 2021 Jan 6 doi: 10.1007/s12026-020-09168-y. PMID: 33405195
Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.
Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S
Pediatr Rheumatol Online J 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9. PMID: 31046790Free PMC Article
Systemic autoinflammation with intractable epilepsy managed with interleukin-1 blockade.
DeSena AD, Do T, Schulert GS
J Neuroinflammation 2018 Feb 9;15(1):38. doi: 10.1186/s12974-018-1063-2. PMID: 29426321Free PMC Article

Prognosis

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA
Front Immunol 2023;14:1231749. Epub 2023 Sep 6 doi: 10.3389/fimmu.2023.1231749. PMID: 37744344Free PMC Article
Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM
Blood 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. PMID: 37084382Free PMC Article
Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.
Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S
Pediatr Rheumatol Online J 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9. PMID: 31046790Free PMC Article

Clinical prediction guides

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA
Front Immunol 2023;14:1231749. Epub 2023 Sep 6 doi: 10.3389/fimmu.2023.1231749. PMID: 37744344Free PMC Article
Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect.
He T, Xia Y, Yang J
Pediatr Rheumatol Online J 2021 Jan 22;19(1):9. doi: 10.1186/s12969-021-00497-2. PMID: 33482855Free PMC Article
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency.
Kashani P, Marwaha A, Feanny S, Kim VH, Atkinson AR, Leon-Ponte M, Mendoza-Londono R, Grunebaum E
Immunol Res 2021 Feb;69(1):53-58. Epub 2021 Jan 6 doi: 10.1007/s12026-020-09168-y. PMID: 33405195
Disease course and treatment effects of a JAK inhibitor in a patient with CANDLE syndrome.
Boyadzhiev M, Marinov L, Boyadzhiev V, Iotova V, Aksentijevich I, Hambleton S
Pediatr Rheumatol Online J 2019 May 2;17(1):19. doi: 10.1186/s12969-019-0322-9. PMID: 31046790Free PMC Article
Increased cardiovascular comorbidities in patients with myelodysplastic syndromes and chronic myelomonocytic leukemia presenting with systemic inflammatory and autoimmune manifestations.
Kipfer B, Daikeler T, Kuchen S, Hallal M, Andina N, Allam R, Bonadies N
Semin Hematol 2018 Oct;55(4):242-247. Epub 2018 May 28 doi: 10.1053/j.seminhematol.2018.05.002. PMID: 30502853

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