Type Ⅰ interferonopathies is a relatively new group of diseases in the last decade, which belong to auto-inflammatory disorders characterized by robust inflammation.Its low incidence and diverse clinical manifestations make it difficult for the clinical identification and diagnosis of this disease.In this article, the concept, pathogenesis, diagnosis and treatment options of this disease was introduced briefly, in order to enhance clinicians′ knowledge of them, thus achieving the goal of early recognition, early detection, early identification and early intervention for the benefit of more patients and their families.

Objective To summarize the clinical characteristics and treatment efficacy of the first reported case of a Chinese boy with stimulator of interferon genes (STING) associated vasculopathy with onset in infancy (SAVI).Methods Sanger sequencing of the gene TMEM173 was performed based on systemic evaluation and clinical analysis of a highly suspected SAVI child admitted to Peking Union Medical College Hospital.A literature search (search terms included'STING''SAVI''autoinflammatory diseases' and'interferonopathy') was conducted using Chinese literature database,EMBASE and PubMed to include recently published SAVI studies (searched from January 2010 to December 2017).Results A 14-year-old boy who had a history of chronic dry cough along with decreased activity tolerance after birth presented with growth retardation,chilblain lesions on the ear,telangiectasia of multiple skin areas and long clubbed fingers.His C-reactive protein was 21 mg/L,erythrocyte sedimentation rate was 78 mm/1h,and IgG was 22.16 g/L.The high-resolution computed tomography (HRCT) revealed interstitial lung diseases and echocardiography showed pulmonary artery hypertension,with a level of 61 mmHg (1 mmHg=0.133 kPa).Genetic mutation of TMEM173 (c.463G＞A,p.V155M) was confirmed by Sanger sequencing.His activity tolerance increased to some extent after treatment with tofacitinib at a dose of 5 mg twice a day.Our review yielded 8 publications (8 English and 0 Chinese).To date 20 cases have been reported worldwide,who mostly presented with skin and lung involvement as well as growth retardation.Conclusions SAVI has been included within the spectrum of interferonopathy,which is a kind of autoinflammatory diseases as well.Typical clinical features include chilblain skin lesions,interstitial lung disease,growth retardation,elevated IgG levels,and increased inflammation markers.Janus kinase (JAK) inhibitors may offer benefit for SAVI patients.

Objective:To summarize the clinical characteristics of type I interferonopathies and provide clues for early identification and diagnosis.Methods:Clinical data of 20 patients admitted to Department of Pediatrics, Peking Union Medical College Hospital and 5 patients admitted to Department of Rheumatology and Immunology, Shenzhen Children′s Hospital from January 2016 to September 2021 were retrospectively analyzed. The data included gene results, clinical manifestations and auxiliary examination results.Results:Of the 25 cases, 12 were males and 13 were females. Age of onset ranged from 1 day to 11 years. And 84% of them had the onset before the age of 3 years. The cases consisted of 14 cases of Aicardi-Goutières syndrome (AGS), 6 cases of adenosine deaminase 2 deficiency (DADA2), 3 cases of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI), and 2 cases of Spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Eighteen patients (72%) experienced neurologic disorder, among whom 16 (64%) showed intracranial calcification, 11 (44%) had dystonia, 10 (40%) had leukodystrophy, 6 (24%) had epilepsy, 5 (20%) had brain atrophy and 5 (20%) had early-onset cerebrovascular events. Skin involvement occurred in 15 cases (60%), among whom 8 cases (32%) had chilblain-like rash, 4 cases (16%) had livedo reticularis, 3 cases (12%) had erythema, 2 cases (8%) had erythema nodosum and 2 cases (8%) had Raynaud′s phenomenon. In addition, 12 cases (48%) had positive autoimmune antibodies, 10 cases (40%) manifested as developmental retardation, 8 cases (32%) experienced lung interstitial lesions, and 7 cases (28%) demonstrated thyroid dysfunction. And 1 died (4%) at 11 years of age.Conclusions:Type Ⅰinterferonopathies can involve multiple organs, and share the characteristics of systemic inflammatory and autoimmune diseases. The early-onset neurological symptoms (early-onset cerebrovascular events, intracranial calcification, leukodystrophy and cerebral atrophy), rashes (chilblain-like rash, livedo reticularis and erythema), positive autoimmune antibodies, developmental delay, interstitial lung disease and thyroid dysfunction may indicate type Ⅰ interferonopathies.