Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Spondyloenchondrodysplasie mit Immundysregulation

Spondyloenchondromatose ist eine ausosomal rezessive Erkrankung, die durch Mutationen im ACP5 hervorgerufen wird. Sie manifestiert sich im Skelettsystem durch Kleinwuchs, Platyspondylie, und ein kurzes verbreitertes Os ileum sowie Enchondrome. Weiterhin können neurologische Veränderungen wie eine geistige Retardierung, zerebrale Kalzifikationen und eine Krampfneigung hinzutreten. Im Immunsystem finden sich Hinweise für autoinflammatorische und autoimmune Reaktionen.

Gliederung

Interferonopathie
Aicardi-Goutières-Syndrom
Immundefekt 38
Pseudo-TORCH-Syndrom 2
Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen
Singleton-Merten-Syndrom
Spondyloenchondrodysplasie mit Immundysregulation
ACP5
Trichohepatoenterisches Syndrom 2
familiärer Chilblain-Lupus

Referenzen:

1.

Frydman M et al. (1990) Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.

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2.

Roifman CM et al. (2003) A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia.

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3.

None (1958) [A case of infantile generalized lupus erythematosus with unusual bone changes].

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4.

Renella R et al. (2006) Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

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5.

Navarro V et al. (2008) Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.

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6.

Lausch E et al. (2011) Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

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7.

Briggs TA et al. (2011) Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

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8.

Girschick H et al. (2015) Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.

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9.

de Bruin C et al. (2016) Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

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10.

Bilginer Y et al. (2016) Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature.

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11.

Briggs TA et al. (2016) Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

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12.

Gustavson KH et al. (1978) Spondylometaphyseal dysplasia in two sibs of normal parents.

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13.

Spranger J et al. (1978) Two peculiar types of enchondromatosis.

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14.

Schorr S et al. (1976) Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers.

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15.

Robinson D et al. (1991) Spondyloenchondrodysplasia. A rare cause of short-trunk syndrome.

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16.

Halal F et al. (1991) Generalized enchondromatosis in a boy with only platyspondyly in the father.

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17.

Menger H et al. (1989) Spondyloenchondrodysplasia.

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18.

Chagnon S et al. (1985) [Spondylo-enchondrodysplasia].

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19.

Sauvegrain J et al. () [Multiple chondroma affecting the spine: spondylo-enchondroplasia and other forms (author's transl)].

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20.

Uhlmann D et al. (1998) Spondyloenchondrodysplasia: several phenotypes--the same syndrome.

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21.

Tüysüz B et al. (2004) Spondyloenchondrodysplasia: clinical variability in three cases.

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22.

Bhargava R et al. (2005) Autosomal dominant inheritance of spondyloenchondrodysplasia.

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23.

Kulkarni ML et al. (2007) A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.

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24.

Renella R et al. (2007) A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].

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25.

Pansuriya TC et al. (2010) Enchondromatosis: insights on the different subtypes.

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Update: 17. Oktober 2019