2024-03-29 NLRP1 - NM_033004.4 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID Exon 1 F24L p.(Phe24Leu) c.70T>C substitution 1 T>C Likely pathogenic YES UNKNOWN Unknown Symptomatic NLRP1-AID (NAIAD) Heterozygous De novo Comoros/African The patient exhibited hyperkeratotic verrucous lesions, occasionally coalescing into disseminated cutaneous horns. Palmoplantar keratoderma was present, along with pachyonychia severely affecting mobility (requiring wheelchair assistance) and gripping ability. The boy was also being treated for complete corneal conjunctivalization and chronic severe periodontal disease. He did not display any joint involvement or recurring fever. Skin biopsy revealed scattered focal hyperkeratosis. 2023-08-24 Publication: https://doi.org/10.1016/j.annder.2020.09.158 Exon 1 A54T p.(Ala54Thr) c.160G>A substitution 1 G>A Likely pathogenic UNKNOWN YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic Self-healing palmoplantar carcinoma Unknown Unknown / 2019-11-08 Publication (PubMed PMID): 27662089 30291141 Exon 1 A59P p.(Ala59Pro) c.175G>C substitution 1 G>C Likely pathogenic YES YES Culture studies Altered regulation Sequencing Sanger Symptomatic NLRP1-AID (NAIAD) Unknown Unknown / 2020-01-28 Publication (PubMed PMID): 31873740 Exon 1 A66V p.(Ala66Val) c.197C>T substitution 1 C>T Likely pathogenic UNKNOWN YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic Self-healing palmoplantar carcinoma Unknown Unknown / 2019-11-08 Publication (PubMed PMID): 27662089 30891475/30291141 Exon 1 M77T p.(Met77Thr) c.230T>C substitution 1 T>C Likely pathogenic UNKNOWN UNKNOWN Unknown Sequencing Sanger Sequencing NGS Symptomatic Corneal intraepithelial dyskeratosis Unknown Unknown France/Caucasian 2018-10-01 Publication (PubMed PMID): 23349227 30291141 Exon 2 R138* p.(Arg138Ter) c.412A>T substitution 1 A>T Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 4 R290G p.(Arg290Gly) c.868A>G substitution 1 A>G Likely benign NO NO Sequencing NGS Symptomatic Non symptomatic Undefined-AID Heterozygous Inherited from an asymptomatic parent France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 4 G352W p.(Gly352Trp) c.1054G>T substitution 1 G>T Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 4 F666L p.(Phe666Leu) c.1998T>G substitution 1 T>G Uncertain significance (VUS) NO NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/ Polyarteritis nodosa revealed by renal infarctions 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 4 S679N p.(Ser679Asn) c.2036G>A substitution 1 G>A Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/Caucasian 40°C (104°F) fever CRP 68 Caucasian Abdominal pain Joint pains Muscle pains urticaria adenopathy Enlarged liver Growth delay Enlarged spleen Partial response to NSAIDs Multiple episodes/crises 2024-03-20 Cuisset L Personal communication Exon 4 R726W p.(Arg726Trp) c.2176C>T substitution 1 C>T Likely pathogenic UNKNOWN NO Unknown Sequencing Sanger Sequencing NGS Symptomatic NLRP1-AID (NAIAD) Unknown Unknown Algeria/Maghrebian mutation found in homozygous state 2018-10-01 Publication (PubMed PMID): 27965258 30291141 Exon 4 T755N p.(Thr755Asn) c.2264C>A substitution 1 C>A Not classified UNKNOWN YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic Syndromic form of juvenile-onset recurrent respiratory papillomatosis Unknown Unknown Belgium/ The nt position has been edited to match this NM reference 2019-11-08 Publication (PubMed PMID): 31484767 Exon 5 F787_R843del p.(Phe787_Arg843del) c.2359_2529del deletion 11529 CAGGTTCAGGTGGGTCCCAGTCACAGATGCCTATTGGCAGATTCTCTTCTCCGTCCTCAAGGTCACCAGAAACCTGAAGGAGCTGGACCTAAGTGGAAACTCGCTGAGCCACTCTGCAGTGAAGAGTCTTTGTAAGACCCTGAGACGCCCTCGCTGCCTCCTGGAGACCCTGCGGTGAGTCTGGCCTGGGTTCTGTTCTGAAGCAGGGATGGGGAAGAGATCCAAGGCAGAAGCTGAGTCTGGGCTGAGGGATTTGTCTTTGTATTTATCAAATATTCGTTGAGGCCTTCTCTGGCCGGGATGACTTTAGTAAACAAACACAGATAGGATTTTTTGCTCATAAAAAAAAAAAATTCCTTCATGAAGTGAGGTTTGAGGGAGGTCTGAAGAATACAGAGGATTTAACTAAGCAAAGCAGGAAGGAAAAAGTTCCAGGAAAAGAGAATAGCATGTACAAAGGCTCTGTGGAGAAGGCAGGAGGAGGCAGTCAAGAAACTGAAAGCAGGCCAGTGTGGCTGGAGGGCAGATAGCAAAGGGTTGAGATAAGGCTACAGATACCAACAGGAAGTAGACTATGCCAGGCTTGTGCACCATGTTGGATTTGGGTCTTTTCCTGATGGTGTGGAATTTTAAGCAGAAGGTTGACAAGATCAGTACATTTTCAAAATAGAAACTGGCTGCAACATGAAAAATGGATTGGAAGAGTGCAAAAGTAGAGGCTGGGAAACCAATTAGTAAGAAAATTGCAGTAGTCCCTGCAAAGATGGTAATAGTTTGGACTAAGGAAAATTATAGTACTTTTAAATGTCACAGATAGTCATAGCTTGGACTATGGTATTGGCAATGGATATGGAACAAAGTGGCTAGATGTAAGAGAGCTATAAAAGTAAAATCAACTGGGCTCAGTAATGGATTGAATTTAGGAAAAAAAGGAAGAGGAAGATATCAAGGATGATTTTAGGTTTCTGACCAAAGCAACTCATGGGATAGTGGCATCTTCATCAAGATGGGGAATACTAAAAGAAAAGTGATTGGGGGGTGGAATGTCATGAGTGTGATCTCGTGCTTGCTGGTTTCAAGATCCTTTCAAGGTATCCAACTGGACCTGCCAAATAGGTTTCAAATAAAGCTCTATCCAAAGATAAGATCGCCCCATAAAACAAATCTCAACAAATCTGCAAGGACTGAAATCATACAAAGTATATTCTCTGACCATGATAAAATGAAATTAGAAATCAACAATAGAAGGAAAGTTGAGGAGTTCATAAATACACTGAAATTTAAAAACACACTCCTAAATAACCAAGGGTCAAAGAAGAAATCACAAAGGAAATTAGAAAACACTTTGAGAGGGATGAAAACAAAATCACAACATGCCAAAATGTATTGGATGCAGCTAATGCAGTGCTTAAAGGGAAGTTTATAGTTATAAATACTTCTATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGATAGAGCCAGACATGATGGCCCATGCCTGTAATCCCAAATCTTTGGAAGGCCAAGGCAGGACAATTGCCTTAGGCCAGGAGTTTGAGACCAGCCTGGGCAACATAGAGAGACTCTGTCTCTACAAAAACATAAAATAAAAAATTAGTTGAGAATGATGATGTGTGCCTGTTGTCATAACTACTTAGGAGGCTGAGACAGGAGTCTCACTTGAGCCCAGGAGTTCAACACTGCAGTGAGCTGTGATTATGCCATTGCACTTCAAGCTGGGCAACAGAGACAGACCTTATCTCTAAAAAAATTACTCAAAATTTTTTTAATTAATGAAAAAAAGAAAAGATACCACTACATACTTATCAGAATGGCCAAAATCCAAAACACTGACAACACCAAATGCTGACGAGGATGTGGAAAAACAGGAACTCTCATTCATTGTTGGTGGGAATGCAAAATGAGACAGCCCCTTTGGAATACAGTCTAGCAGTTTTCTACAAAACAAAATATACTTTTACCATAGGATCCAGCAATCGCATTCCTTGATATTTACCAAAATGAGTTGAATACCTCTGTCCACACAAAAACCTGCACATGAATGTTTATGGCAGCTTTGTTCATCATTGCCAAAACTTGGAAGCAAGCTGCCCTTCAGAAAGTGAATGGACTCATAAATTGTGGTACAAACAGACAATGGACTATTATTCAATGCTAAAAAGAAATAAGCTATCAAGCTACACAAAGATATGGAGAAACTTTAAATGCATGTTACTAAAAGAAGCCAATCTAAAAAGGCTACATGCTGTATGCTTCCAACTATATGACATTCTGGAAGAGGCAAAAACAAGGAGATAGTAAAAAAGATTAGTGGTTTCCAGGGCTTGGGGGAAGGGAGGAATTAATAGAGCACAGTAGAGTTTTAGGGCAGTGAAACTATTCTATATACTGTAATCGTTCATACATATTATTTTACAGCAATCAAAATCCATAGAATGTACACCACCAAGAGTGACCCCTAATGTAAACTATGGACTTTGGGTGATGATGTGTCCATGTCAGTTTATCAATTGTAACAAATGTCACCACAATATACTAGTGTGGTACAGCATGTCAGCAGTGGGAAAGATTGTATGAGGGATGTGGGGACAGGGAGTATATGGGAACTCGCTGTACTTTTTGCTCAATTTTACTGTGAACCTAAAACTACTCTAAAAAATAAAGTCTATTGAAGAAGAAGAAAAAGAAGAAGCAGAGAAATCTCAAATAAGTAACCTAAACTTACACCTTAAGAATTTGTTTTCCTTAGGTCTTTCATGTTAGTAAAGAAATTTTTTTAAAAAGCAAACAAAACCAAAAGCAAGCAGGGGGAAAGAAATAATAAAGACTAGAGTAGAGATAAATGAAACAGAGAATAGAAAACAATACAGAAAACCAATGAAACTAAAAGTTAGTTCTTTAAAAATACCAACAAAATTTGACACCTTTTAGCTAGACTAACTAAAATGTAAGAAGATTCAGATTACTAAAATCAGAAATAAAAGATGGGGTATCACAATTGAACTTACAGAAATAAAAGGATTATAAGTGAATATTATGAAATATTGTAAGCCAACAAATTAGATAACCCAGATGAAATGAGCCAACTTCCAGAAAGACACGAATACCTAAACTGACTTAATAAGAAATACAAAATCTTAATAGACTTATAACAAATAGAGATATTGAATTAGTAAGTTAAAAACTTTCTATGAAACAAAGCCCAGGCCCAGATGGCTTTACTAGTGAATTCTACCAAATATTTAAAGAAGAATTAACACTTATATTTTCAAACTCTTCCAAAAATAGCAGAAAAGAGAACACGTGCCAATTTGTTCTATGAGACCAATATTACCCTGATACCAAAATTAGACTAAGATAACCAAAAGCATCACAAGAGAAAAAAAAAAATCTGCAGGCCAACATCCTTTATGAATATATATGCAAAATTACATAACAAAATACTGGCAACATATAAAAAGGATTGTAGACCATGACCAAATGGGATTTATCCCAAGAATGCAAATTGGGTTTAACCTAGGATAATTGATCAATGTAATGCAAGATGTTAATAGAATAAAGAACACAAACCAATGATTATCTCAAAGACACAAAAAAAGCATTTGACAAACCCTCAACACCTTTTCACATTGGAAACACTCAGCAAACTAGAAATAAAAGGGAACTTTATCAACCTGATAAAGTTGTTACCAGTAAAAAAACCCACAGCTAACATTATACTTAATGGTGGATGACTGAGTGCTTTCCCCCTAAGATTAGGAATAAGACAAAGATGTCTGTTCTTGCCATTTCTATTCAACACTGTACTCAAGGTTCCATCCAGAGTAATTAAGCAAGAAAATGAAATTAACAGCTTCCAGATTGAAAAGAAAGTAATTAAACTATTATTTGCAGGTGACATGACATTGTATGTAGAAAATCCTAAGGAATCTACAAATATTAAAATTAGGGCCAGGTGTGGTGGCTCATGCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATTGCTTGAGTTCCGGAGTTCAAGACCAGCCAGGGCAACACGGCAAAACCCTGTCTCTACCAAAACTACAAAATATTAGCCGGGCGTGGTGGCACACGCCCACAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCGCTTCAGCCTGGTAGGCAGAGGTAGCAGTGAGCTGAGATTGTGCCACTGCACTCCAACCTGGGTGACAAAGGGAGACCCTGTTGAAAAAGAAAAAAAAAAAAAACTAATGATTTCAGCAAGGTTTCAGGAAACAAGATCAATATACAAAAATTAGTTGTGCTGCTATACACTAGCAATGAACAATCCAAAAATTAAATTAGGAAAACAATAAATTTAACAAAAGAAAACTTGTATACAGAGAACTACAAAAAATGGTTGAAAGAAATTATGTAAGACCTAAACAAATGAAAAGATGTCCCATGTTCATAGATTGGAAGACTTGATATTATTAAAATGACAATACCCCCCAAACTGATCTATAGATTCAACACAATCCCTAGCAGAATCCCAGCTGCCATTTTTGCAGAAATGGACAAGCTGATTCTAAAATTCACGGGCAAAAATAAGATTGCATGTCAAGCCTGGGGAACACCCCCACCCCAGTATTTAATGGCCAAAGAAGAGCCAACAAACAAGCCTGAGAAGGAGGGGCCACATAGATGAAAGGGACACCAGGAGAGAGAGGTGTCATGGAACCCAACAGAGCAGAGGGTCTCAAGGAGGTCAGCAGGGACTACTGCTGCTGGGAGGTCAAGATAAGGACTGAAATTTGTCCATTGGATTAGTGATAGGAAAGTCATGAATAACCTCAGCAGAAGTACCTTATGTGGCATGAAGAGGCGAGAATGCAGACTGGAGTGCATTAAAGAGGGAGAAGGAGGTAAAAAATGAGACCACAAATATACTTTCTTCAAAGACTTTGATAGTGAAAAGGAGGAAAGCACTAAAGCAGAGGGGATGGTGGGCTGAGTAAATGTGTGTGTCTGTCCATCTGCTTACTTGCATTTAAGAAGGAAAAGATCTCAGTTTGAGAATCAGTGAGGAGGAGTGATAAAAGACACAAGAAGGAGAAGGAGTCATTGATGGCTCTCTATCCTCAGAGGGAGGAGGGAGGAGAAAGATTGGCCTTGGAAGAGGGAGGAAATGTCTCCTTTACTGTAACAGGAGGGGAGATGAGGACAGGGAAGAGAGAGGTAGGAACATAGGTTTCACTCTGAGAAGCTGAGAGGTTCCCATCTGATGGCTTCATTTTTCTCTGAGAAATAGGAATTGAGTTGTTTGCTAGGAGTGAGTGTGAGGGTTGAGGTGTTGGATGTTTGGAAAAGGCAAGATCTTCAAATGGCCATAGTAGAGTGTGAGATCTCTGCCAGTCAGGCATTGCTGTGGCCCATGTGAGGGTCGTGGTCATGATTCAAGATGGCAGCCACCTACCCTGTTGCACAGGTGGGAGTTTGGGTGGAGAGTGGAAAGATAGCAGAATTCAGGGTTAGCCAGAGGAATGTGATGGAAGGTCAGAGGGTAAGAAATTCAGGATACTGCCAATGAAGGATCATGGAATCTAACCTACATTCCAAGGAAATTGAAGAAAAGAAAGTGATAAGAGATTGAAAGAAAGGAGATTGTAAGAAAGGAAAGCAATCAAGAGATTGTTCATTAAAAAGGAGTTACAGTGGGAGAAGTTGAGCAGGCAGAGTAAGGAGGCAAGCCCAGCCTCGTGCTGTGACTTTCTGTATCCTTATGAGGCTGCTCTACCCACTCCTAAGACCTATCCAAGGAGAACCACCAGAGTCCAGTAAAAATGCTTTTGAGCAGGACTAAGGAATCCTGGTTCTACCTCAAACTTCACACCCCAGTAGGAAGACACCAATCTTCAATGTACTCTTTTTACATTGGCATAAAATTTCACTATCTCAAACCCAAACAACTCCATATCTGTTAATTCCTTGGGCCTTCCAAAAAACACCCTGCAAAAATGGCAGAGCAGGGACAACTATTTCCATTTTCCATATATAAAGAAATGGGCTGGGGAAGGACATTCCCTGGAGCCAGACACACACAGGTTCAAATCTTGCCTCTAACGGTTACAGATTGAAAACTATGGGTAGGTTTCTTTAGCAAGTTTCAGTTTACTCATTAATAACATGGATTCACCATGTCTGTTGCACAAGGTGGCTGCAAAGTCAAAGGAGATCATGTATGCTATGTACTTAGGGTCATGTGTGCTATGTATTTAGGGTTATGTATGCTGTGTACTTAGGACATGTATGCTATGTACTTAGGGTCATGTATGCTATGTATTTAGGGTCATGTATGCTATGTACTTAGGACCATGTATGCTATGTACTTAGGTTCATGTATGATGTGTATTTAGGGTCATGTATGCTATGTATTTAGTGCCTAAGTTGTCCTAAGAGGCTCAGAGAAATTAACGACTTGCCAAATTCACATAGTTAGCAGTGGGAGAGCTGGACACAACTCAGTGAGGGCAAGACCCAGCACCAACACCTACCTCCTCTGTATCAGGTAAGCCGGGGCCTGATTAATTCTGGCTCACTGGGGGTAGCACCATAAAAAGAAAGAAAATCTGGATCAGGCAAATGTGAATATTTCCCACAATAAAAACATCTCCATATGGAAGAGTGTACAGCCTTACACACGCTTGGATGCCAGACTACCCAAGACCCGCAAGCAAAGTCCTAACTATTGTATTTCTCTTTTTTTATTTACCTACATCTCCTCATTTCCTCCCCCTCCTCGCCCCTGATAACCACCATTTATTCTTTCTTTGTATGTATTTTGCTTTTTTAATATTTCACCCACAAGTGAGACCATGTAGTGTTTTTCTTTCTATGTCTGGCTTATTTCACTTTTGGATTTATCTTGAAATGCATTGAATAAGCTGGTGTCAGGAATTCTGGGGTTTTGTCACTAATGGCCTGTAAAATTGAGCACATTACGCAGACAAAGGAGAAATTGGCGGGAGTGGGGTTGGAGAGCTCAAAAAAGGAATGCCGGAAAGAGCAAGGTCAGGGGAGAGACCAGACAGAGGGTGTGGAATCGAAGACACATGAGGGTGGACCCTTGGCCTCCTCTGGAACAGAAGAGAAAGGACTATGTGATGACACAGGCAGCTGAGGACGGAGAGGTGGAGGGACATTGAGGGTTTTGGTTTCCACAGCAGCAGCATCCTTTAAGCACTAACCTTCTGCCAGGGGCTTCCCTAAGAACATGGCATACATGATCTCCTTGGATCTTGCAGCCAGCTGGTACAATAGACATGGCAGATCCATGATACTGATGAGTGAACTGAAACTTGGTAAAGACATCTGCCATAGTCTTCAACTTGTAACTGACAGAGGCAAGATTTGAATCCATCTCTGTCTAGCCCCAAAGCCTGTGCCCTTCACCTGCCCACTGGGGTCACTGCTGCCCAAGGTCAGATGGCCTCAGCCTCCTCACAGAGGTCCAATACCAAGTGTCTTCACTGGGGCTTGGGAGTGGGTAGGATTGGAGGAGGGAAGTCCACACAGCACAGCTTGTAATGGTAAGTTGTTTAAAAATAAATAAAGCCCCAAGAGAGGCACATTTGTTTATGCTGAGATGAGTCCTGGGGGCAGGAACATGCCTAGTGAAAATGAGCTTGTCAACAAGCAGGAAATCAGATAAGCCAGGTGGGTAGAACCGACCACCCAGGGAGAGAGTGGGCTGGCAGGAGACAGCCATCTGGGAAGTAGGCCCTCAGCTGTGAGATGCCAGCCACAGGCAGTGAGCACAGAGCCACATCTGCCAGCTGCGTCTGGACTTTCTTGGGCCACACTCTGCAGCTCAGGGTTGGAAGCAGAGAAGGAAGACAGTGATTGTCCAGGGAGACGTTACCGAGGGCCTGGTGCACTCTAAAATCCAAGTGCTCTACAATGCCACATACTGAGTCGTGTGTGTGTGTCTGTGTGTGTCTGTGTGTGTGTCTGTGTCTGTGTCTGTGTGTGTATGTGTGTGTGTGTCTGTGTGTCTGTGTGTGTGTGTCTGTGTGTGTGTCTGTATGTGTGTCTGTGTGTCAAAGTGTGTGTCTCTGTGTATGTCTGTGTATGTGTGTGTGTATCCGTGTGTGTCTGTGTGTGGGTGTCTGTGTCTGTGTGGGTGTCTGTGTGTGTGTGTGTGTGTGTCTGTGTGTCTGTGTGTAAGAGAGACAGGGGGAATTGGGGTTTCGCTCTGTCACCTAAGCTGGAGTGCAGTGGTGTGATCATGACTCAATGCAGCCTCAAACTCCTGGATACGAGCCATCCTCCCACCTCGGCCTCCAAAAGTGTGGGGATTACAGGCAGGAGTCACCACACCTTGCCAGGATGTGTGTTTAATGCAGCTGACCTTAAATTCCTGGCTGGATAGGAAAGTCCAGAAGGAAGCCAGAGAAAAACAAAGGGGAAAAGTAGGTCTTATGAGAGCAAGGAAAGACAGAGATTTTTGGAGAGGATGGAGAGTGGTATTTGAGTCCAACCAGAAGGATAACCAGGCCCCACCTTCAGCCTCCTTCCCCCTCACACACAGCCGCTCCCATAATCATATCAGATGGCCGCTCCCACAGTGTCTGCCAACCCTGCATCTGCAGCTCCAGACCCAAACCCAACACCCTCCTCTGAGGTGTCCCAGAGGCTCCTGAAATTCAGCCTATTCTTACCTAGACTATCCTCCCTAACTAAAAACAAACTGTTCCTCCTCTCAGAACCAACTGCATCATTTTCAGGACCCAATACAAAATGAAAATGCAGTGTCCTAGCTCAAAAGTCAGGATGAAAGTGCTGTTAAAGGTACTACGATACAGAGCTTTTTCTTTCTTCCATAGTTTCTCTCTCAACCTATCACAGTGTATTTTATTTGCTATTTAACAATGCATTCCCTTGGGCACTGGGACACTAGCAGTGTTTGTCCAGACCCTCAAAGGTGCTCGGAGGCCTCTCCACAGCTCAGCATGTGCACATGGTGCACCAGATGCAGGGTGCCTCTCCCACAAGTCACCAGATCCAGGCACCATGCCCCAGAGTGGGTAAAATGTCAAGCCAGACATGTCTCCTTCCCATGGGCCACCACCCCAGCCTAAAGCAGATGGGAGACCCTCCAGGGTATTGCCAGGATGCATTAGGTATCTAGATCAGTGGTGGGGGAGATTTGCCCCCACCAAATCACCAAATGTGCCATGATGCTGCCAGCCCAAATCGAGAAAGGCTGCCACCTGCCCTACCCCAAGATGCCCCACCCCAACCTACCCATGCCTGATCCAGGCCCCCACCAGAGATAAAGCGTGGCAATAATCACTGGGCTGAGGTTGAGTGGGGGCCCCACAACACTCAAATGCAGGATGACCAAGAACTATTTCCCCTAGAGGGAGGGAGGGAGGTGGCAGGAGATGGCATCACCTATGAGCTGAGGCTCCATGGTCCCATCAGACTTCACCTACAAAACACAAATTTAAAGACAAAATTATTAAGAAATTCAAGATGGCCACCACAGAGCATTAACCCCCCCAATCTAGAAGGGTCCTTCTCACACCCCTGCCAGTTCCGGGTCCTTCTGAGCACGGGGCCCTGTGCAACCACCCTGGTTGTACACCAATGAAACTGACACTCTTCTAACATCTGCTTTCTCAGTAAGTGACAGCAGCTTCTACTCTGAATCCAACCTTGAGGCCTCCCTGGACTCCACTGAGTGCCACAGGGTCTGCTCCAAACATCTCCCGAAGTCGCTGCTCTGACAGTTGCTCATCCTCCCCCACAGACCCCTTGCCTCCTGCCTTTCCCCACCCAGCCACCTCCACTTCCTCAGGGATCTTGCATTTTTTTTTTTTTTATTTGAGATGGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTACAACCTCCCTCAGGGATCTTTCTAAAGCAATGCAGAGACCACATCACTGCTGGCCTCAGGAACTTTCATGGGCTCATCACTGCCACAGGGAAATAGGTCTAAACATCTTATAATGACATCCAAGACCTACTACTATCTTGATATTTTCTAGCTTTACCCTCAGACTTTCTCTCTACCTGGGTAGCCTTTACGCTAACATCACTATACTAACCGCGTGCTGTGATTTCACATCTGCCCTACCAGCCACGCGTGCCCCTGCCTCCGCCCTCACCTCAGTGAATCACTCATTTAAGTTTCACCGTTTCCACCCTGCCTTGGCAATCACTCATTCCTCTGCCTTCAGCTGCACCTGACTTGCCCCTCTTTTGAGGCTATTTCATTCATTTATTTACTACATACTTACTAAGCACCTACTGTATGCTAGACCCTGCTCTGGGCACTGGGATATGACTAGTAATGAAAATGGGGCTGGGCACGGTGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGGGTTGAAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGGCGCGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGAAAGAGCGAGACTCCATCTCACAGAAAGAAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGAGAGAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAGAAAGAGGAAAGGAAGGAAGGAAGGAAGGAGAGGGAGGGAGGGAGGGAGGGAAATGGGCAAAATTCCTTCCTCAAGGAGCTTACATTCTAGTTGGGAGGGAGGACAAGAAGCCAAATAAGTAAGTAAAATATATTGTGAGTGACATGAGCTATAGAGAAAAGTAAAGCAGAAAGGAGCAGGGAGTCTGGGGATGGGTGTGCAATTTTAAGTGGAGAGACGAGGCAAGATGTCACCAAAGCGACTTCCTTCTGAGCAAAGACCTGACGCAAGTGGAGGAGCACCCCATGAGGTGTCAGCACCAGAAGATTGTTCCAGGCAGAAGAAGCAGCAGAAGCAGCAGGTGCAGAGACCTTAGGTGGAACTGTGCCTGGGGTGAGGAAGGAAGAGAGAGAAGGGCAGTGACTATGGACCTAAAAGAGATTAGAGATGAGGACAGAGATGATGAGGATCCAAGTCCCCAGAGCCCTGTAGACCAGGAAAAGGACCGTGAATTGTATTCTGAGTAATGTGGGAAAACATTGGAGGGTTTTAATCAAAAAGGATCAAAAAACTAACTATTATGTGTTTCTATGTCTATCCCCAAGTACCATGTGCATTTCTGGGGCCTGGGAGGGTTTTCTAGACCTCTGCCTGGCCCACAGGCCTGGTGCATAGTAGGTGATTAATGGTTGCTTATGGGTGTCTGTTGAATCAACAGGTGAGTAACCTGAAGACCATGGGTGTGTGTCTTCCA Likely pathogenic UNKNOWN YES Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic Familial keratosis lichenoides chronica Unknown Unknown / 2019-11-08 Publication (PubMed PMID): 27662089 30291141 Exon 5 L813P p.(Leu813Pro) c.2438T>C substitution 1 T>C Likely pathogenic YES YES Culture studies Altered regulation Sequencing NGS Symptomatic NLRP1-AID (NAIAD) Homozygous Inherited from an asymptomatic parent Germany/Caucasian 2023-02-14 Publication (PubMed PMID): 36763876 Exon 7 D935N p.(Asp935Asn) c.2803G>A substitution 1 G>A Likely benign YES NO Sequencing NGS Symptomatic Non symptomatic Undefined-AID Heterozygous Inherited from an asymptomatic parent France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 12 F1102L p.(Phe1102Leu) c.3306C>G substitution 1 C>G Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic difficult to treat seronegative arthritis, complete destruction of her wrists, high CRP, definitely no dyskeratosis, dubious recurrent fever Heterozygous Unknown Netherlands/ 63 year old woman 2023-12-06 Fernando L Genevieve D Boursier G Personal communication Exon 12 R1109C p.(Arg1109Cys) c.3325C>T substitution 1 C>T Likely benign NO NO Sequencing NGS Symptomatic Non symptomatic Undefined-AID Heterozygous Inherited from an asymptomatic parent France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 13 P1214R p.(Pro1214Arg) c.3641C>G substitution 1 C>G Pathogenic YES YES Culture studies Patient-derived NLRP1 FIIND mutation P1214R abrogates NLRP1–DPP9 binding and causes aberrant inflammasome activation Sequencing Sanger Sequencing NGS Symptomatic NLRP1-AID (NAIAD) Unknown Unknown Netherlands/Caucasian de novo heterozygous mutation Phd thesis : https://dash.harvard.edu/handle/1/37371143 2018-10-01 Publication (PubMed PMID): 27965258 33738798/30291141/38044752 Exon 13 P1214L p.(Pro1214Leu) c.3641C>T substitution 1 C>T Likely pathogenic NO YES Cell free system Culture studies Altered regulation Sequencing Sanger Sequencing NGS Symptomatic NLRP1-AID (NAIAD) Heterozygous Unknown / Father not tested Phd thesis : https://dash.harvard.edu/handle/1/37371143 2021-05-27 Publication (PubMed PMID): 33738798 Exon 17 Q1384P p.(Gln1384Pro) c.4151A>C substitution 1 A>C Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication Exon 17 N1420K p.(Asn1420Lys) c.4260C>A substitution 1 C>A Likely benign YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/ cutaneous and articular lupus 2024-03-05 Launay D Rittore C Boursier G Personal communication Exon 17 S1424C p.(Ser1424Cys) c.4270A>T substitution 1 A>T Uncertain significance (VUS) YES NO Sequencing NGS Symptomatic Undefined-AID Heterozygous Unknown France/ 2024-03-06 Cuisset L (Cochin lab Paris) Personal communication