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Spondyloenchondrodysplasia with immune dysregulation

MONDO:0011939

Also known as: Roifman Immunoskeletal syndrome, SPENCD, SPENCDI, Spondyloenchondrodysplasia with immune dysregulation, combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia, spondyloenchondrodysplasia, spondyloenchondrodysplasia with immune dysregulation, spondyloenchondromatosis

12 clinical trials for this condition and its sub-types, 0 tagged with Spondyloenchondrodysplasia with immune dysregulation itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disorder of connective tissue (1314) ↑ Type 1 interferonopathy of childhood (19) ↑ Spondylometaphyseal dysplasia (0)

Including sub-types (12) Tagged with Spondyloenchondrodysplasia with immune dysregulation (0)

Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2

New blood tests aim to unlock mysteries of rare inflammatory diseases

Knowledge-focused Not yet recruiting

This study aims to better understand rare autoinflammatory diseases by developing blood tests that measure inflammation markers. Researchers will analyze blood samples from 60 adults and children with these conditions. The goal is to identify specific inflammation pathways, which…

Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused

Last updated Jun 26, 2026 17:44 UTC