Hatipoglu syndrome

Alternative name(s) : DPP9 deficiency, Hatipoglu immunodeficiency syndrome\; HATIS

Gene_locus : human-DPP9

Mutation : 4 mutations Q851X_human-DPP9 G167S_human-DPP9 R111X_human-DPP9 S214X_human-DPP9

OMIM : 608258 , 620331

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.