Name: Spondyloenchondrodysplasia with immune dysregulation | Acronym: SPENCDI
Alt. names: Spondylometaphyseal dysplasia with combined immunodeficiency | Roifman-Melamed syndrome | SPENCD

Gene: ACP5 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2011

Last updated on: 2024-07-28 20:27:31 by Xiao P. Peng

OMIM: 607944

Orphanet: 50816

MONDO: -

DOID: -

ClinGen:

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. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family.[source:OMIM]

At least one report has suggested that treatment with JAK1/2 inhibition may help ameliorate some of the immune dysregulatory and inflammatory phenotypes associated with this condition (PMID: 38347954).