Objective: To summarize the clinical characteristics and provide clues for early identification of non-
inflammasome related conditions. Methods: The clinical manifestations, laboratory tests, genetic testing and follow-up of 49 children with non-
inflammasome related conditions in Peking Union Medical College Hospital from January 2006 to February 2022 were retrospectively analyzed. Results: A total of 49 children, 29 of them were boys and 20 were girls. The age of onset was 0.8 (0.3, 1.6) years, the age at diagnosis was 5.7 (2.8, 8.8) years, and the time from onset to diagnosis was 3.6 (1.9, 6.3) years. Combined with genetic testing results, 49 children with non-
inflammasome related conditions were found, including 34 cases (69%) of
Blau syndrome, 4 cases (8%) of tumour
necrosis factor receptor-associated periodic syndrome, 4 cases (8%) of haploinsufficiency of A20, 2 cases (4%) of
Majeed syndrome, 2 cases (4%) of pyogenic sterile
arthritis,
pyoderma gangrenosum,
acne syndrome and 3 cases (6%) of
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. There were 22 cases (45%) with a positive family history. The clinical manifestations included 37 cases (76%) cases with
rash, 38 cases (78%) with joint involvement, 33 cases (67%) with eye involvement, 17 cases (35%) with recurrent
fever. In addition, 11 cases (22%) were complicated with digestive system involvement. Thirty cases (61%) presented as elevated inflammatory indexes (erythrocyte sedimentation rate and (or)
C-reactive protein), positive
autoantibodies were noticed in 3 cases (6%). The patients were treated with
glucocorticoid in 23 cases (47%),
immunosuppressive agents in 43 cases (88%) and
biologic agents in 37 cases (76%). During the follow-up of 5.8 (2.9, 8.9) years, 3 cases (6%) died. Conclusions: The symptoms of non-
inflammasome related conditions include recurrent
fever,
rash, joint and ocular involvement with increased inflammatory indexes and negative
autoantibodies. Up to now,
glucocorticoids,
immunosuppressants and
biologic agents are the most popular medications for the non-
inflammasome related conditions.