infantile onset multisystem autoimmune disease 5

An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24.

Signs and symptoms

• Anti-thyroid peroxidase antibody positivity
• Decreased circulating C-peptide concentration
• Type I diabetes mellitus
• Mild intellectual disability
• Interictal EEG abnormality
• Delayed speech and language development
• Seizure
• Asthma
• Reduced circulating growth hormone concentration
• Unusual bronchiolitis