Alternative name(s) : DPP9 deficiency, Hatipoglu immunodeficiency syndrome; HATIS
Gene_locus : 1
Mutation : 4
Comment
The symptoms associated with this monogenic disease partially overlapped with those of AIADK caused by an NLRP1 gain-of-function mutation. These included failure to thrive (consisting of poor weight gain,growing below the third percentile),skin manifestations, pancytopenia, and susceptibility to infections, which required hematopoietic stem cell transplant. The stop-gain mutations were expected to completely abolish the enzymatic activity of DPP9.
| 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 : |
| PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedID: 36112693 |
| Gene_locus related to this paper: human-DPP9 |