Quarter in review – Pediatric Rheumatology

Sikha Agarwal MD
Director, PREP (Pediatric Rheumatology Expert Practice) Clinic, Vile Parle, Mumbai
Consultant, Pediatric Rheumatology, Nanavati Max, Surya, Saifee Hospital, B.J.Wadia Hospital for Children, Mumbai

Study in focus 1: Baricitinib in auto-inflammatory type 1 interferonopathies

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutieres syndrome (AGS) are monogenic auto-inflammatory disorders. They may have early onset of symptoms and have a prominent interferon (IFN) response gene signature (IGS).  Janus kinase (JAK) signal transducer and activator of transcription (STAT) pathway is the principal signal transduction pathway for IFNs. Thus Baricitinib, a specific JAK 1/2 inhibitor, was studied to treat these patients.

This study involved a total of 9 patients (5 CANDLE, 3 SAVI, and 1 AGS). They received baricitinib in the range of 8 to 12 mg. The median duration of exposure to baricitinib was 52.1 weeks. The clinical parameters, laboratory results, and dose-dependent decrease in IFN biomarkers and IGS was studied. Also, the physician’s global assessment of disease activity was assessed. A decrease from baseline was noted in CANDLE and SAVI but increased in AGS. These findings suggest that baricitinib could be a potential therapeutic agent in patients with auto-inflammatory interferonopathies.

Study in focus 2: Maternal and infant outcomes of pregnancy associated with anti-SSA/RO antibodies

Anti-SSA/RO is a serological marker used to help in the diagnosis of Sjogren’s syndrome and systemic lupus erythematosus (SLE). A meta-analysis, including 18 studies (after all exclusion) comprising 1675 patients and 1920 pregnancies was done to assess the maternal and infant outcomes with anti-SSA/RO positive pregnancies. 50% of these pregnancies had a cesarean delivery and 26% had preterm labor. Other outcomes were spontaneous abortion (5%) and termination of pregnancy (4%).

As regards fetal outcomes, 4% had perinatal death and 3% intrauterine growth retardation. Cardiac outcomes noted were congenital heart block (7%), endocardial fibroelastosis (6%), and dilated cardiomyopathy (6%). Other outcomes included 19% cutaneous neonatal lupus erythematosus, 12% hepatobiliary disease, and 16% hematological manifestations. These adverse pregnancy outcomes of women with anti-SSA/RO antibodies serve as an indicator and guide for the diagnosis and subsequent treatment of these women for better maternal and infant health.


  1. Kanazawa N, et al. Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS). Pediatr Rheumatol Online J 2023; 21(1) : 38.
  2. Sheng X, Song X, Xiong Y et al. Maternal and infant outcomes of pregnancy associated with anti-SSA/RO antibodies: a systematic review and meta-analysis. Pediatr Rheumatol Online J 2023; 21(1) : 22.