Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations

Area of Science:

• Genetics
• Immunology
• Pediatrics

Background:

• Childhood-onset chronic and refractory cytopenias are rare hematological disorders.
• Genetic factors are increasingly recognized as potential causes for these conditions.

Observation:

• Three pediatric cases presented with severe autoimmune thrombocytopenia or anemia.
• Associated symptoms included growth retardation, spastic diplegia, and intracranial calcification.
• Skeletal abnormalities like platyspondyly and metaphyseal lesions were noted.

Findings:

• Biallelic ACP5 mutations confirmed the diagnosis of spondyloenchondrodysplasia (SPENCD).
• Two patients exhibited elevated serum interferon alpha levels.
• This highlights ACP5-associated disease as a cause of childhood autoimmune cytopenia.

Implications:

• The study identifies a novel genetic cause for autoimmune cytopenias in children.
• It suggests a potential role for type I interferon in the pathogenesis of autoimmune cytopenias.
• This research aids in diagnosing and understanding rare pediatric autoimmune and skeletal disorders.