Disorders of immune dysregulation
Gene: ACP5
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) 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. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.
Multiple reports in literature. Well established disease gene.Created: 27 Jan 2022, 12:39 a.m. | Last Modified: 27 Jan 2022, 12:39 a.m.
Panel Version: 0.10795
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert listCreated: 5 Apr 2020, 9:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections
Publications
gene: ACP5 was added gene: ACP5 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ACP5 was set to Unknown