Gene Locus : human-DPP9
Mode of mutation : Natural mutant
Disease : Hatipoglu syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : consanguineous Bedouin family from Israel with two similarly affected cousins. Each propositus was shown to segregate a homozygous germline stop-gained variant (c.331C>T\;p.R111*)
| Title : DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1\/IL-1 signaling - Harapas_2022_Sci.Immunol_7_eabi4611 |
| Author(s) : Harapas CR , Robinson KS , Lay K , Wong J , Moreno Traspas R , Nabavizadeh N , Rass-Rothschild A , Boisson B , Drutman SB , Laohamonthonkul P , Bonner D , Xiong JR , Gorrell MD , Davidson S , Yu CH , Fleming MD , Gudera J , Stein J , Ben-Harosh M , Groopman E , Shimamura A , Tamary H , Kayserili H , Hatipoglu N , Casanova JL , Bernstein JA , Zhong FL , Masters SL , Reversade B |
| Ref : Sci Immunol , 7 :eabi4611 , 2022 |
| Abstract : Harapas_2022_Sci.Immunol_7_eabi4611 |
| ESTHER : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedID: 36112693 |
| Gene_locus related to this paper: human-DPP9 |