Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Current Allergy and Asthma Reports
Published in: Current Allergy and Asthma Reports 9/2019

01-09-2019 | Neutrophilic Dermatosis | Autoimmunity (TK Tarrant, Section Editor)

Update on the Genetics of Autoinflammatory Disorders

Author: Isabelle Jéru

Published in: Current Allergy and Asthma Reports | Issue 9/2019

Login to get access

Abstract

Purpose of the Review

This review aims at presenting the most significant data obtained in the field of the genetics of autoinflammatory disorders (AID) over the last past 5 years.

Recent Findings

More than 15 genes have been implicated in AID since 2014, unveiling new pathogenic pathways. Recent data have revealed atypical modes of transmission in several inherited AID, such as somatic mosaicism and digenism. First pieces of evidence showing an involvement of epigenetic modifications in the pathogenesis of AID have also been brought to light. Novel genetic data have been obtained on the molecular bases of genetically complex AID.

Summary

The development of next-generation sequencing in routine clinical practice has led to an explosion in the identification of new AID genes. Advances in the knowledge of AID further blur the limits between monogenic and multifactorial forms of these syndromes, and between autoinflammatory and autoimmune conditions.
Literature
1.
French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31.CrossRef
2.
The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997;90(4):797–807.CrossRef
3.
•• Masters SL, Lagou V, Jeru I, Baker PJ, Van Eyck L, Parry DA, et al. Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl Med. 2016;8(332):332ra45. Comment: Involvement of MEFV , the gene responsible for the most frequent autosomal recessive AID, in a rare autosomal dominant disorder due to a particular pathogenic mechanism. CrossRef
4.
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–44.CrossRef
5.
Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet. 1999;22(2):178–81.CrossRef
6.
Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22(2):175–7.CrossRef
7.
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet. 2012;44(10):1156–60.
8.
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71(1):198–203.CrossRef
9.
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001;29(3):301–5.CrossRef
10.
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, et al. CARD15 mutations in Blau syndrome. Nat Genet. 2001;29(1):19–20.CrossRef
11.
Ueki Y, Tiziani V, Santanna C, Fukai N, Maulik C, Garfinkle J, et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001;28(2):125–6.CrossRef
12.
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002;11(8):961–9.CrossRef
13.
Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005;42(7):551–7.CrossRef
14.
Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet. 2006;38(3):300–2.CrossRef
15.
Jeru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105(5):1614–9.CrossRef
16.
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360(23):2426–37.CrossRef
17.
Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009;360(23):2438–44.CrossRef
18.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361(21):2033–45.CrossRef
19.
Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B. IL-10 and IL-10 receptor defects in humans. Ann N Y Acad Sci. 2011;1246:102–7.CrossRef
20.
Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010;6(2):e1000833.CrossRef
21.
Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB, et al. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87(6):866–72.CrossRef
22.
Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A. 2011;108(36):14914–9.CrossRef
23.
Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei XY, Fraitag S, et al. Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med. 2011;365(7):620–8.CrossRef
24.
Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, et al. Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet. 2011;89(3):432–7.CrossRef
25.
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, et al. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012;91(1):163–70.CrossRef
26.
Jordan CT, Cao L, Roberson ED, Pierson KC, Yang CF, Joyce CE, et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012;90(5):784–95.CrossRef
27.
Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012;366(4):330–8.
28.
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713–20.CrossRef
29.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol. 2012;13(12):1178–86.CrossRef
30.
Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu HC, Allen MH, et al. AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. Am J Hum Genet. 2014;94(5):790–7.CrossRef
31.
Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–31.CrossRef
32.
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–20.
33.
Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371(6):507–18.CrossRef
34.
Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014;46(10):1140–6.CrossRef
35.
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014;46(10):1135–9.CrossRef
36.
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, et al. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014;124(18):2867–71.CrossRef
37.
Jeru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila- GarciaMT, et al. Brief report: involvement of TNFRSF11A molec- ular defects in autoinflammatory disorders. Arthritis Rheum. 2014;66(9):2621–7.
38.
Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, et al. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015;212(6):939–51.CrossRef
39.
Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H, Naim EA, et al. Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis. Arthritis Rheum. 2015;67(1):288–95.CrossRef
40.
•• Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest. 2015;125(11):4196–211. Comment: first example of digenism in AID. CrossRef
41.
Takagi M, Ogata S, Ueno H, Yoshida K, Yeh T, Hoshino A, et al. Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2017;139(6):1914–22.CrossRef
42.
Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016;48(1):67–73.
43.
Boyden SE, Desai A, Cruse G, Young ML, Bolan HC, Scott LM, et al. Vibratory urticaria associated with a missense variant in ADGRE2. N Engl J Med. 2016;374(7):656–63.CrossRef
44.
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, et al. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis. 2017;76(7):1191–8.
45.
Soler VJ, Tran-Viet KN, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E, et al. Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. J Med Genet. 2013;50(4):246–54.CrossRef
46.
Zhong FL, Mamai O, Sborgi L, Boussofara L, Hopkins R, Robinson K, et al. Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation. Cell. 2016;167(1):187–202 e17.CrossRef
47.
Damgaard RB, Walker JA, Marco-Casanova P, Morgan NV, Titheradge HL, Elliott PR, et al. The deubiquitinase OTULIN is an essential negative regulator of inflammation and autoimmunity. Cell. 2016;166(5):1215–30 e20.CrossRef
48.
Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL, et al. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A. 2016;113(36):10127–32.CrossRef
49.
Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, et al. Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. J Exp Med. 2017;214(1):59–71.CrossRef
50.
de Jesus AA, Brehm A, VanTries R, Pillet P, Parentelli AS, Montealegre Sanchez GA, et al. Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. J Allergy Clin Immunol. 2019;143(5):1939–43 e8.
51.
Davidson S, Steiner A, Harapas CR, Masters SL. An update on autoinflammatory diseases: interferonopathies. Curr Rheumatol Rep. 2018;20(7):38.CrossRef
52.
Jeru I, Papin S, L'Hoste S, Duquesnoy P, Cazeneuve C, Camonis J, et al. Interaction of pyrin with 14.3.3 in an isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus. Arthritis Rheum. 2005;52(6):1848–57.CrossRef
53.
Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet. 2013;14(5):307–20.CrossRef
54.
•• Saito M, Fujisawa A, Nishikomori R, Kambe N, Nakata-Hizume M, Yoshimoto M, et al. Somatic mosaicism of CIAS1 in a patient with chronic infantile neurologic, cutaneous, articular syndrome. Arthritis Rheum. 2005;52(11):3579–85. Comment: First example of somatic mosaicism in AID. CrossRef
55.
Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, et al. Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Blood. 2008;111(4):2132–41.CrossRef
56.
Arostegui JI, Lopez Saldana MD, Pascal M, Clemente D, Aymerich M, Balaguer F, et al. A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying Mendelian inherited diseases. Arthritis Rheum. 2010;62(4):1158–66.CrossRef
57.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, et al. High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum. 2011;63(11):3625–32.CrossRef
58.
Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM, et al. Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2015;74(3):603–10.CrossRef
59.
Rowczenio DM, Gomes SM, Arostegui JI, Mensa-Vilaro A, Omoyinmi E, Trojer H, et al. Late-onset cryopyrin-associated periodic syndromes caused by somatic NLRP3 mosaicism-UK single center experience. Front Immunol. 2017;8:1410.CrossRef
60.
de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, et al. Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. J Allergy Clin Immunol. 2015;135(2):561–4.CrossRef
61.
Mensa-Vilaro A, Teresa Bosque M, Magri G, Honda Y, Martinez-Banaclocha H, Casorran-Berges M, et al. Brief report: late-onset cryopyrin-associated periodic syndrome due to myeloid-restricted somatic NLRP3 mosaicism. Arthritis Rheum. 2016;68(12):3035–41.CrossRef
62.
Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF, et al. Brief report: cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 mutation. Arthritis Rheum. 2015;67(9):2482–6.CrossRef
63.
de Inocencio J, Mensa-Vilaro A, Tejada-Palacios P, Enriquez-Merayo E, Gonzalez-Roca E, Magri G, et al. Somatic NOD2 mosaicism in Blau syndrome. J Allergy Clin Immunol. 2015;136(2):484–7 e2.CrossRef
64.
Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A, et al. Identification of a high-frequency somatic NLRC4 mutation as a cause of autoinflammation by pluripotent cell-based phenotype dissection. Arthritis Rheum. 2017;69(2):447–59.CrossRef
65.
Jimenez-Trevino S, Gonzalez-Roca E, Ruiz-Ortiz E, Yague J, Ramos E, Arostegui JI. First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes. Ann Rheum Dis. 2013;72(6):1109–10.CrossRef
66.
Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, et al. Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2018;141(4):1485–8 e11.CrossRef
67.
Mensa-Vilaro A, Cham WT, Tang SP, Lim SC, Gonzalez-Roca E, Ruiz-Ortiz E, et al. Brief report: first identification of intrafamilial recurrence of Blau syndrome due to gonosomal NOD2 mosaicism. Arthritis Rheum. 2016;68(4):1039–44.CrossRef
68.
Rowczenio DM, Trojer H, Omoyinmi E, Arostegui JI, Arakelov G, Mensa-Vilaro A, et al. Brief report: association of tumor necrosis factor receptor-associated periodic syndrome with gonosomal mosaicism of a novel 24-nucleotide TNFRSF1A deletion. Arthritis Rheum. 2016;68(8):2044–9.CrossRef
69.
Kirino Y, Bertsias G, Ishigatsubo Y, Mizuki N, Tugal-Tutkun I, Seyahi E, et al. Genome-wide association analysis identifies new susceptibility loci for Behcet’s disease and epistasis between HLA-B*51 and ERAP1. Nat Genet. 2013;45(2):202–7.CrossRef
70.
Takeuchi M, Mizuki N, Meguro A, Ombrello MJ, Kirino Y, Satorius C, et al. Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behcet’s disease susceptibility. Nat Genet. 2017;49(3):438–43.CrossRef
71.
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci U S A. 2015;112(52):15970–5.
72.
Bernstein BE, Meissner A, Lander ES. The mammalian epigenome. Cell. 2007;128(4):669–81.CrossRef
73.
Vento-Tormo R, Alvarez-Errico D, Garcia-Gomez A, Hernandez-Rodriguez J, Bujan S, Basagana M, et al. DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes. J Allergy Clin Immunol. 2017;139(1):202–11 e6.CrossRef
74.
Aubert P, Suarez-Farinas M, Mitsui H, Johnson-Huang LM, Harden JL, Pierson KC, et al. Homeostatic tissue responses in skin biopsies from NOMID patients with constitutive overproduction of IL-1beta. PLoS One. 2012;7(11):e49408.CrossRef
75.
Kirectepe AK, Kasapcopur O, Arisoy N, Celikyapi Erdem G, Hatemi G, Ozdogan H, et al. Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever. BMC Med Genet. 2011;12:105.
76.
Bekkering S, Arts RJW, Novakovic B, Kourtzelis I, van der Heijden C, Li Y, et al. Metabolic induction of trained immunity through the mevalonate pathway. Cell. 2018;172(1–2):135–46 e9.CrossRef
77.
Hughes T, Ture-Ozdemir F, Alibaz-Oner F, Coit P, Direskeneli H, Sawalha AH. Epigenome-wide scan identifies a treatment-responsive pattern of altered DNA methylation among cytoskeletal remodeling genes in monocytes and CD4+ T cells from patients with Behcet’s disease. Arthritis Rheum. 2014;66(6):1648–58.CrossRef
78.
Hofmann SR, Kubasch AS, Ioannidis C, Rosen-Wolff A, Girschick HJ, Morbach H, et al. Altered expression of IL-10 family cytokines in monocytes from CRMO patients result in enhanced IL-1beta expression and release. Clin Immunol. 2015;161(2):300–7.CrossRef
79.
Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nat Genet. 2010;42(12):1118–25.CrossRef
80.
Nimmo ER, Prendergast JG, Aldhous MC, Kennedy NA, Henderson P, Drummond HE, et al. Genome-wide methylation profiling in Crohn’s disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway. Inflamm Bowel Dis. 2012;18(5):889–99.CrossRef
Metadata
Title
Update on the Genetics of Autoinflammatory Disorders
Author
Isabelle Jéru
Publication date
01-09-2019
Publisher
Springer US
Published in
Current Allergy and Asthma Reports / Issue 9/2019
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-019-0874-2

Other articles of this Issue 9/2019

Current Allergy and Asthma Reports 9/2019 Go to the issue

Pediatric Allergy and Immunology (W Dolen, Section Editor)

Drug Safety Evaluation in China

Allergic Skin Diseases (L Fonacier and A Wollenberg Section Editors)

Occupational Dermatosis

Allergies and the Environment (M Hernandez, Section Editor)

Environmental Exposures and Asthma in Active Duty Service Members

Autoimmunity (TK Tarrant, Section Editor)

Genetic and Environmental Contributors for Celiac Disease