Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

Menger H et al. (1989) Spondyloenchondrodysplasia.

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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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20.

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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21.

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

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22.

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

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23.

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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24.

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

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25.

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

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Update: 14. August 2020
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