" /> Spondyloenchondrodysplasia with immune dysregulation - CISMeF





Preferred Label : Spondyloenchondrodysplasia with immune dysregulation;

Symbol : SPENCDI;

CISMeF acronym : SPENCD; SPENCDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPENCD; Combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia; Roifman immunoskeletal syndrome;

Description : Spondyloenchondrodysplasia with immune dysregulation combines the typical metaphyseal and vertebral bone lesions in spondyloenchondrodysplasia (SPENCD; 271550) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. It has been suggested by some that the various clinical manifestations observed in association with SPENCD may be pleiotropic manifestations of a single nosologic entity defined by the presence of typical spondylar and metaphyseal changes (summary by Renella et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid phosphatase 5, tartrate resistant gene (ACP5, 171640.0001);

Prefixed ID : #607944;

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31/07/2025


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