infantile onset multisystem autoimmune disease 4

An infantile onset multisystem autoimmune disease characterized by onset of various autoimmune diseases in early childhood that has_material_basis_in homozygous mutation in the PDCD1 gene on chromosome 2q37.

Signs and symptoms

• Diffuse alveolar hemorrhage
• Hepatomegaly
• Peritoneal abscess
• Type I diabetes mellitus
• Anti-insulin antibody positivity
• Immune dysregulation
• Respiratory failure
• Bone marrow hypocellularity
• Verrucae
• Splenomegaly