文献汇总 | 自身炎症性疾病的发现 | Discovery of Autoinflammatory Diseases (Updating)

2024-01-23 13:59:15

Type 1 Interferonopathy

AGS (2006-2020)

Phenotype

  • Aicardi J, Goutières F. A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol. 1984;15(1):49-54. doi:10.1002/ana.410150109

Genotype

AGS1
  • Crow YJ, Hayward BE, Parmar R, et al. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006;38(8):917-920. doi:10.1038/ng1845
AGS2-AGS4
  • Crow YJ, Leitch A, Hayward BE, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet. 2006;38(8):910-916. doi:10.1038/ng1842
AGS5
  • Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41(7):829-832. doi:10.1038/ng.373
AGS6
  • Rice GI, Kasher PR, Forte GMA, et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet. 2012;44(11). doi:10.1038/ng.2414
AGS7
  • Rice GI, Del Toro Duany Y, Jenkinson EM, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling. Nat Genet. 2014;46(5):503-509. doi:10.1038/ng.2933
LSM11 & RNU7-1 mutation (2020)
  • Uggenti C, Lepelley A, Depp M, et al. cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nat Genet. 2020;52(12):1364-1372. doi:10.1038/s41588-020-00737-3

Review paper

  • Crow YJ, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies. Nat Rev Immunol. 2015;15(7):429-440. doi:10.1038/nri3850

Pediatric SLE due to DNASE1L3 deficiency (2011)

  • Al-Mayouf SM, Sunker A, Abdwani R, et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43(12):1186-1188. doi:10.1038/ng.975

SPENCDI (2011)

Phenotype

  • Schorr S, Legum C, Ochshorn M. Spondyloenchondrodysplasia. Echondromatomosis with severe platyspondyly in two brothers. Radiology. 1976;118(1):133-139. doi:10.1148/118.1.133

Genotype

  • Lausch E, Janecke A, Bros M, et al. Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet. 2011;43(2):132-137. doi:10.1038/ng.749
  • Briggs TA, Rice GI, Daly S, et al. Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type i interferon expression signature. Nat Genet. 2011;43(2):127-131. doi:10.1038/ng.748

DADA2 (2014)

  • 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
  • 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

SAVI (2014)

  • Jeremiah N, Neven B, Gentili M, et al. Inherited STING-activating mutation underlies a familial inflammatory. J Clin Invest. 2014;124(12):5516-5520. doi:10.1172/JCI79100DS1
  • Liu Y, Jesus AA, Marrero B, et al. Activated STING in a Vascular and Pulmonary Syndrome. N Engl J Med. 2014;371(6):507-518. doi:10.1056/NEJMoa1312625

IGS15 deficiency (2015)

  • Zhang X, Bogunovic D, Payelle-Brogard B, et al. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature. 2015;517(7532):89-93. doi:10.1038/nature13801

USP18 deficiency (2016)

  • Meuwissen MEC, Schot R, Buta S, et al. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 2016;213(7):1163-1174. doi:10.1084/jem.20151529

X-linked reticulate pigmentary disorder (2016)

Phenotype

  • Partington MW, Marriott PJ, Prentice RSA, Cavaglia A, Simpson NE. Familial cutaneous amyloidosis with systemic manifestations in males. Am J Med Genet. 1981;10(1):65-75. doi:10.1002/ajmg.1320100109

Genotype

  • Starokadomskyy P, Gemelli T, Rios JJ, et al. DNA polymerase-α regulates the activation of type i interferons through cytosolic RNA:DNA synthesis. Nat Immunol. 2016;17(5):495-504. doi:10.1038/ni.3409

DNase II deficiency (2017)

  • Rodero MP, Tesser A, Bartok E, et al. Type i interferon-mediated autoinflammation due to DNase II deficiency. Nat Commun. 2017;8(1). doi:10.1038/s41467-017-01932-3

OSA1 deficiency (2018)

  • Cho K, Yamada M, Agematsu K, et al. Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia. Am J Hum Genet. 2018;102(3):480-486. doi:10.1016/j.ajhg.2018.01.019

STAT2 GoF (2020)

  • Gruber C, Martin-Fernandez M, Ailal F, et al. Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J Exp Med. 2020;217(5):1-11. doi:10.1084/jem.20192319

JAK1 GoF (2020)

  • Gruber CN, Calis JJA, Buta S, et al. Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. Immunity. 2020;53(3):672-684.e11. doi:10.1016/j.immuni.2020.07.006

Inflammasomopathy

FMF (1997) 

  • Aksentijevich I, Centola M, Deng Z, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797-807. doi:10.1016/S0092-8674(00)80539-5
  • The French FMF Consortium, Bernot A, Clepet C, et al. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31. doi:10.1038/ng0997-25

Mevalonate kinase deficiency / Hyper IgD (1999)

Phenotype

  • Van Der Meer JWM, Radl J, Meyer CJLM, et al. Hyperimmunoglobulinaemia D and Periodic Fever: a New Syndrome. Lancet. 1984;323(8386):1087-1090. doi:10.1016/S0140-6736(84)92505-4
  • Berger R, Smit GPA, Schierbeek H, Bijsterveld K, Coultre R le. Mevalonic aciduria: an inborn error of cholesterol biosynthesis? Clin Chim Acta. 1985;152(1-2):219-222. doi:10.1016/0009-8981(85)90195-0

Genotype

  • Houten SM, Kuis W, Duran M, et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22(2):175-177. doi:10.1038/9691

FCAS (2001-2020)

Phenotype

Genotype

FCAS1
  • 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):301-305. doi:10.1038/ng756
FCAS2
  • Jéru I, Duquesnoy P, Fernandes-Alnemri T, et al. Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A. 2008;105(5):1614-1619. doi:10.1073/pnas.0708616105
FCAS3
  • Zhou Q, Lee GS, Brady J, et al. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012;91(4):713-720. doi:10.1016/j.ajhg.2012.08.006
FCAS4
  • Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K. An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med. 2014;211(12):2385-2396. doi:10.1084/jem.20141091
Factor XII-associated FCAS (2020)
  • Scheffel J, Mahnke NA, Hofman ZLM, et al. Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. Nat Commun. 2020;11(1). doi:10.1038/s41467-019-13984-8

Muckle-Wells (2001)

Phenotype

Genotype

  • 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):301-305. doi:10.1038/ng756

NOMID/CINCA (2002)

  • Aksentijevich I, Nowak M, Mallah M, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12):3340-3348. doi:10.1002/art.10688
  • Feldmann J, Prieur A-M, Quartier P, 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. doi:10.1086/341357

PLAID (2012)

  • Ombrello MJ, Remmers EF, Sun G, et al. Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions . N Engl J Med. 2012;366(4):330-338. doi:10.1056/nejmoa1102140

NLRC4-MAS (2014)

  • Romberg N, Al Moussawi K, Nelson-Williams C, et al. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014;46(10):1135-1139. doi:10.1038/ng.3066
  • Canna SW, De Jesus AA, Gouni S, et al. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014;46(10):1140-1146. doi:10.1038/ng.3089

NLRP1 deficiency (2016)

  • Zhong FL, Mamaï O, Sborgi L, et al. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell. 2016;167(1):187-202.e17. doi:10.1016/j.cell.2016.09.001

NLRP1 GoF (2017)

  • Grandemange S, Sanchez E, Louis-Plence P, 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):1191-1198. doi:10.1136/annrheumdis-2016-210021

DPP9 deficiency (2021)

  • Harapas CR, Robinson KS, Lay K, et al. DPP9 ​deficiency​: an Inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling. medRxiv. 2021;13:14. doi:10.1101/2021.01.31.21250067

Non-inflammasomopathy

TRAPS (1999)

Phenotype

  • Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ. Familial Hibernian fever. Q J Med. 1982;51(204):469-480. 

Genotype

  • McDermott MF, Aksentijevich I, Galon J, 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):133-144. doi:10.1016/S0092-8674(00)80721-7

Blau syndrome (2001)

Phenotype

Genotype

  • Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet. 2001;29(1):19-20. doi:10.1038/ng720

Cherubism (2001)

Phenotype

  • Jones WA. Familial multilocular cystic disease of the jaws. Am J Cancer. 1933;17(4):946-950. doi:10.1158/ajc.1933.946

Genotype

  • Ueki Y, Tiziani V, Santanna C, et al. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001;28(2):125-126. doi:10.1038/88832

PAPA/PAMI (2002)

Phenotype

  • Llndor NM, Arsenault TM, Solomon H, Seidman CE, McEvov MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997;72(7):611-615. doi:10.4065/72.7.611
  • Sampson B, Fagerhol MK, Sunderkötter C, et al. Hyperzincaemia and hypercalprotectinaemia: A new disorder of zinc metabolism. Lancet. 2002;360(9347):1742-1745. doi:10.1016/S0140-6736(02)11683-7

Genotype

  • Wise CA, Gillum JD, Seidman CE, et al. Mutations in CD2BP1 disrupt binding to PTPPEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002;11(8):961-969. doi:10.1093/hmg/11.8.961
  • Holzinger D, Fassl SK, de Jager W, et al. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases. J Allergy Clin Immunol. 2015;136(5):1337-1345. doi:10.1016/j.jaci.2015.04.016

Majeed syndrome (2005)

Phenotype

  • Majeed HA, Kalaawi M, Mohanty D, et al. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr. 1989;115(5 PART 1):730-734. doi:10.1016/S0022-3476(89)80650-X

Genotype

  • Ferguson PJ, Chen S, Tayeh MK, et al. 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):551-557. doi:10.1136/jmg.2005.030759

H syndrome (2008)

  • Molho-Pessach V, Lerer I, Abeliovich D, et al. The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3. Am J Hum Genet. 2008;83(4):529-534. doi:10.1016/j.ajhg.2008.09.013

DIRA (2009)

  • Aksentijevich I, Masters SL, Ferguson PJ, et al. An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist. N Engl J Med. 2009;360(23):2426-2437. doi:10.1056/nejmoa0807865

CANDLE/PRAAS (2010-2012)

Phenotype

CANDLE
  • Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol. 2010;62(3):489-495. doi:10.1016/j.jaad.2009.04.046
JMP
  • Garg A, Hernandez MD, Sousa AB, et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab. 2010;95(9):58-63. doi:10.1210/jc.2010-0488
Nakajo-Nishimura syndrome
  • Nakajo A. Secondary hypertrophic osteoperiostosis with pernio. J Dermatol Urol. 1939;45:77–86.
  • Nishimura N, Deki T, Kato S. Hypertrophic pulmonary osteo-arthropathy with pernio-like eruption in the two families. J Dermatol Venereol. 1950;60:136–141.

Genotype

  • Agarwal AK, Xing C, Demartino GN, et al. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet. 2010;87(6):866-872. doi:10.1016/j.ajhg.2010.10.031
  • Arima K, Kinoshita A, Mishima H, 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):14914-14919. doi:10.1073/pnas.1106015108
  • Kitamura A, Maekawa Y, Uehara H, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011;121(10):4150-4160. doi:10.1172/JCI58414
  • Liu Y, Ramot Y, Torrelo A, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64(3):895-907. doi:10.1002/art.33368

Additional Genotype

  • Brehm A, Liu Y, Sheikh A, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production. J Clin Invest. 2015;125(11):4196-4211. doi:10.1172/JCI81260
  • Poli MC, Ebstein F, Nicholas SK, et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018;102(6):1126-1142. doi:10.1016/j.ajhg.2018.04.010
  • de Jesus AA, Brehm A, VanTries R, et al. Novel proteasome assembly chaperone mutations in PSMG2/PAC2 cause the autoinflammatory interferonopathy CANDLE/PRAAS4. J Allergy Clin Immunol. 2019;143(5):1939-1943.e8. doi:10.1016/j.jaci.2018.12.1012
  • Sarrabay G, Méchin D, Salhi A, et al. PSMB10, the last immunoproteasome gene missing for PRAAS. J Allergy Clin Immunol. 2020;145(3):1015-1017.e6. doi:10.1016/j.jaci.2019.11.024

DITRA (2011)

  • Marrakchi S, Guigue P, Renshaw BR, et al. Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis. N Engl J Med. 2011;365(7):620-628. doi:10.1056/nejmoa1013068

ADAM17 deficiency (2011)

  • Blaydon DC, Biancheri P, Di W-L, et al. Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion . N Engl J Med. 2011;365(16):1502-1508. doi:10.1056/nejmoa1100721

CARD14-mediated psoriasis (2012)

  • Jordan CT, Cao L, Roberson EDO, et al. PSORS2 is due to mutations in CARD14. Am J Hum Genet. 2012;90(5):784-795. doi:10.1016/j.ajhg.2012.03.012

AP1S3 deficiency (2014)

  • Setta-Kaffetzi N, Simpson MA, Navarini AA, et al. AP1S3 mutations are associated with pustular psoriasis and impaired toll-like receptor 3 trafficking. Am J Hum Genet. 2014;94(5):790-797. doi:10.1016/j.ajhg.2014.04.005

COPA syndrome (2015)

  • Watkin LB, Jessen B, Wiszniewski W, et al. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015;47(6):654-660. doi:10.1038/ng.3279

HA20 (2015)

  • Zhou Q, Wang H, Schwartz DM, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2015;48(1):67-73. doi:10.1038/ng.3459

TRIM22 (2016)

  • Li Q, Lee CH, Peters LA, et al. Variants in TRIM22 That Affect NOD2 Signaling Are Associated with Very-Early-Onset Inflammatory Bowel Disease. Gastroenterology. 2016;150(5):1196-1207. doi:10.1053/j.gastro.2016.01.031

Otulipenia (2016)

  • Zhou Q, Yu X, Demirkaya E, 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):10127-10132. doi:10.1073/pnas.1612594113
  • Damgaard RB, Walker JA, Marco-Casanova P, et al. The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity. Cell. 2016;166(5):1215-1230.e20. doi:10.1016/j.cell.2016.07.019

Subcutaneous panniculitis-like T cell lymphoma (2018)

  • Gayden T, Sepulveda FE, Khuong-Quang DA, et al. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome. Nat Genet. 2018;50(12):1650-1657. doi:10.1038/s41588-018-0251-4

Uncategorized

Monogenic sJIA (2014)

  • Wakil SM, Monies DM, Abouelhoda M, et al. Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis. Arthritis Rheumatol. 2015;67(1):288-295. doi:10.1002/art.38877

RIPK1 deficiency (2018-2019)

  • Cuchet-Lourenço D, Eletto D, Wu C, et al. Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science. 2018;361(6404):810-813. doi:10.1126/science.aar2641
  • Li Y, Führer M, Bahrami E, et al. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci U S A. 2019;116(3):970-975. doi:10.1073/pnas.1813582116

Cleavage-resistant RIPK1-induced Autoinflammatory (2020)

  • Lalaoui N, Boyden SE, Oda H, et al. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Nature. 2020;577(7788):103-108. doi:10.1038/s41586-019-1828-5
  • Tao P, Sun J, Wu Z, et al. A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Nature. 2020;577(7788):109-114. doi:10.1038/s41586-019-1830-y

ROSAH (2019)

  • Williams LB, Javed A, Sabri A, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. Genet Med. 2019;21(9):2103-2115. doi:10.1038/s41436-019-0476-3
  • Zhong L, Wang J, Wang W, et al. Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1. J Clin Immunol. 2020;40(2):350-358. doi:10.1007/s10875-020-00741-6

IL-18–mediated PAP and recurrent MAS (2020)

  • de Jesus AA, Hou Y, *s S, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020;130(4):1669-1682. doi:10.1172/JCI129301

NEMO deleted exon 5-autoinflammatory syndrome (2020)

  • de Jesus AA, Hou Y, *s S, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020;130(4):1669-1682. doi:10.1172/JCI129301

SAMD9L-associated autoinflammatory disease (2020)

  • de Jesus AA, Hou Y, *s S, et al. Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. J Clin Invest. 2020;130(4):1669-1682. doi:10.1172/JCI129301

VEXUS (2020)

  • Beck DB, Ferrada MA, Sikora KA, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease . N Engl J Med. 2020;383(27):2628-2638. doi:10.1056/nejmoa2026834

C2orf69 LoF (2021)

  • Wong HH, Seet SH, Maier M, et al. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021;108(7):1301-1317. doi:10.1016/j.ajhg.2021.05.003

TBK1 deficiency (2021)

  • Taft J, Markson M, Legarda D, et al. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. Cell. Published online August 2021:S0092867421008850. doi:10.1016/j.cell.2021.07.026

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