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
Year | Disease | Gene | Methods |
|---|---|---|---|
1997 | Familial Mediterranean Fever (FMF) | MEFV | Multipoint and two point linkage with RFLPs and microsatellites |
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 [14–16]. Candidate gene [14]. |
2002 | Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne (PAPA) | PSTPIP1 | Microsatellite haplotype analysis and candidate gene [17–19]. |
2004 | Early Onset Sarcoidosis (EOS) | NOD2 | |
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 [29–32] 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]. |