Disorders of immune dysregulation

Gene: ACP5

Green List (high evidence)

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

• 26854080
• 26951490
• 21217755
• 26789720
• 2363422
• 21217752

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Sources: Expert list

Created: 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

• 26951490
• 21217755
• 26789720
• 26346816