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1. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

3. Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

4. Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype

6. A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

7. causes muscular dystrophy and arrhythmia by affecting protein trafficking

8. Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

10. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

11. Identification of a Novel Mutation in TNFAIP3 in a Family With Poly-Autoimmunity

13. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

14. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

15. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

22. Early Treatment and IL1RN Single‐Nucleotide Polymorphisms Affect Response to Anakinra in Systemic Juvenile Idiopathic Arthritis

23. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

24. DPM2-CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

26. IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis

27. HLA allele frequencies and susceptibility to COVID ‐19 in a group of 99 Italian patients

28. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy

33. Corrigendum: translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

34. Transcriptional and epigenetic analyses of the DMD locus reveal novel cis ‑acting DNA elements that govern muscle dystrophin expression

35. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

36. POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

37. Corrigendum: translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

39. Erratum: Corrigendum: Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice

40. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants

43. Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.

44. Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue inmdxMice

45. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

50. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016

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