Skip to main content


Table 1 Summary of the genes identified to be mutated in monogenic autoinflammatory diseases, the year they were first recognised and mapping techniques which contributed to this

From: Gene hunting in autoinflammation

Year Disease Gene Methods
1997 Familial Mediterranean Fever (FMF) MEFV Multipoint and two point linkage with RFLPs and microsatellites
Positional cloning [5, 6].
1999 TNF-Receptor Associated Periodic Syndrome (TRAPS) TNFRSF1A Multipoint linkage, two point linkage [1]. Multipoint and two-point linkage and haplotype analysis [7].
1999 Hyper IgD Syndrome (HIDS) MVK Pairwise Linkage with microsatellites [8].
2001 Cryopyrin Associated Periodic Syndromes (CAPS) NLRP3 (CIAS1) Microsatellite multipoint and two-point linkage, and haplotype analysis in MWS [9] and FCAS [10]; candidate gene CINCA [11].
2001 Blau Syndrome NOD2 Microsatellites, multi and two-point linkage and haplotype analysis [12]. Candidate gene [13].
2001 Cherubism SH3BP2 Microsatellite pairwise and multipoint linkage, haplotype analysis [1416]. Candidate gene [14].
2002 Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne (PAPA) PSTPIP1 Microsatellite haplotype analysis and candidate gene [1719].
2004 Early Onset Sarcoidosis (EOS) NOD2 Candidate gene [20, 21].
2005 Majeed Syndrome LPIN2 Microsatellites, homozygosity mapping, two and multipoint linkage and haplotype analysis [22].
2006 Recurrent Hydatidiform Mole 1 (RHM1) NLRP7 Microsatellites, multipoint linkage and haplotype analysis. Candidate gene [23, 24].
2008 Familial Cold Autoinflammatory Syndrome 2 (FCAS2) NLRP12 Candidate gene [25].
2009 Deficiency of IL-1 Receptor Antagonist (DIRA) IL1RN Candidate gene [26].
2009 Severe infantile inflammatory bowel disease IL10RA, IL10RB, IL10 Haplotype analysis and multipoint linkage with microsatellites and SNP arrays [27]. Candidate gene [28].
2011 CANDLE/JMP/NNS PSMB8 SNP homozygosity mapping, parametric multipoint linkage and [2932] Exome analysis [31, 32].
2011 Deficiency of IL36 Receptor Antagonist (DITRA) IL36RN SNP array based homozygosity mapping then multipoint linkage and haplotype analysis with microsatellites [33]. Exome sequencing [34].
2012 Autoinflammation & PLCγ2-associated antibody deficiency & immune dysregulation (APLAID) PLCG2 Exome sequencing [35].
2012 HOIL1 Deficiency RBCK1 (HOIL1) SNP based deletion screening and exome sequencing [36].
2013 Pustular psoriasis/ pityriasis rubra pilaris CARD14 SNP multipoint linkage, microsatellite and RFLP haplotype analysis, targeted exome and candidate gene sequencing [37]. Exome and targeted-capture sequencing [38].