DISEASE: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Entry
H01576 Disease
Name
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI); Spondyloenchondrodysplasia (SPENCD)
Description
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying degrees of neurological impairment including spasticity, developmental delay, and basal ganglia calcification. In addition, signs of autoimmune disease resembling systemic lupus erythematosus (SLE) are commonly observed. Furthermore, patients may also suffer from recurrent infections. SPENCD is caused by biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRAP). Affected individuals displayed an absence of TRAP serum expression and, in keeping with autoimmune manifestations, increased levels of serum interferon-alpha (IFNalpha) and an upregulation of interferon-stimulated genes (ISGs).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01576 Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K, Baudouin V, Cebeci AN, Clapuyt P, Coman D, De Somer L, Finezilber Y, Frydman M, Guven A, Heritier S, Karall D, Kulkarni ML, Lebon P, Levitt D, Le Merrer M, Linglart A, Livingston JH, Navarro V, Okenfuss E, Puel A, Revencu N, Scholl-Burgi S, Vivarelli M, Wouters C, Bader-Meunier B, Crow YJ
Title
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A
Title
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA
Title
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
