Skip to main content

Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Table 1 Epidemiology and genetics of rare recently recognized monogenic autoinflammatory diseases

From: The expanding spectrum of rare monogenic autoinflammatory diseases

Year of gene discovery Disease*   N patients** M/F ratio Ethnicity*** Ref Mode of inheritance Gene****   Chromosome location Most frequent mutation
2008 H Syndrome Histiocytosis lymphadenopathy plus syndrome 4 2/2 1 Indian case 12 Recessive SLC29A3 Solute Carrier Family 10q22.1 ND
1 Pakistani case 13
1 Morocan case 10 29 (Nucleoside Transporter), Member 3
1 Tunisian case 11
2008 NAPS12 NLRP12 Associated Periodic Syndrome 19 13/6 2 Guadeloupean families 18 Dominant NLRP12 NLR pyrin domain containing protein 12 19q43.42 c.1054C>T, p.Arg352Cys
17
1 Italian family 58
6 Eastern-European cases 16
1 Armenian case 16
1 Italian case 9
1 Guadeloupean case 9
1 Irish case
2009 DIRA Deficiency of Interleukin 1 Receptor Antagonist 17 9/8 1 Turkish family 23 Recessive IL1RN Interleukin 1 2q13 c.-64_1696del, p.IL1F9_IL1RNdel
1 Lebanese 22 receptor antagonist
family 22
2 Dutch families 22 c.213_227del, p.Asp72_Ile76del
1 Dutch case 22
1 Canadian case 22,27
2 Puerto-Rican cases 25
2 Brazilian cases 24,26
2 Unknown
3 Dutch,
1 Lebanese,
1 Turkish,
1 from unknown ancestry
2011 DITRA Deficiency of Interleukin 66 26/37 3 Tunisian families 30 Recessive IL36RN Interleukin 36 receptor antagonist 2q13 c.80C>T, p.Leu27Pro
1 Algerian family 9
36 Receptor Antagonist 19 European cases 32,35,37 c.338C>T, p.Ser113Leu
10 Asian cases 35 c.28C>T, p.Arg10*
6 Tunisian cases 30
6 German cases 36
3 Japanese cases 33,34
1 Spanish case 9
1 Turkish case 36
1 Iraqi case 36
1 Russian case 37
2012 PSORS2 Psoriasis susceptibility 2 45 24/21 1 European family 42 Dominant  CARD14 Caspase recruitment domain-containing protein 14 17q25.3 c.349G>A, p.Gly117Ser
1 Taiwanese family 42
1 Tunisian family 43
3 German cases 36
  PRP Pityriasis Rubra Pilaris 17 9/8 4 Israeli families 41
2012 DSAP Disseminated Superficial Actinic Porokeratosis >45 21/16/ND 20 Chinese families, 48.49 Dominant MVK Mevalonate Kinase 12q24 C.604G>A
p.Gly202Arg
6 Chinese cases
2010 ALDD (JMP, NNS, CANDLE) Autoinflammation, lipodystrophy, and dermatosis syndrome 40 26/14 22 Japanese families 53,57 Recessive PSMB8 Proteasome Subunit, 6p21.32 c.224C>T, p.Thr75Met
1 Portuguese family 56 Beta-Type, 8 c.602G>T,
1 Mexican family 56 p.Gly201Val
3 Hispanic cases 54
3 Spanish cases 54
2 American cases 54
1 Japanese case 53
1 Israeli case 54
1 Italian case 9
2012 APLAID Autoinflammation, Antibody deficiency, and Immune Dysregulation syndrome 2 1/1 1 family of unknown origin 14 Dominant PLCG2 Phospholipase C, gamma 2 16q23.3 ND
2012 NA Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 3 1/2 1 French family 15 Recessive RBCK1 RANBP-Type and C3HC4-Type Zinc Finger-Containing 1 20p13 ND
1 Italian case
  1. * Commonly used disease names as defined in Table 2 ** Genetically confirmed. *** “Family” refers to multiplex families; “Case” refers to sporadic patients **** Approved HUGO.
  2. NA: Not assigned yet. ND: Not determined.