• Amyloidosis
• Aromatic L-Amino Acid Decarboxylase Deficiency
• Chronic Immune Thrombocytopenic Purpura
• Chronic Inflammatory Demyelinating Polyneuropathy
• Congenital Athymia
• Cystinosis
• Duchenne, Becker and Limb-Girdle Muscular Dystrophy
• Eosinophilic Esophagitis
• Eosinophilic Granulomatosis with Polyangiitis
• Fabry Disease
• Graves’ Disease
• Hereditary Angioedema (HAE)
• Homozygous Familial Hypercholesterolemia
• Lysosomal Acid Lipase Deficiency
• Metachromatic Leukodystrophy
• Neonatal-Onset Multisystem Inflammatory Disease (NOMID)
• Neuromyelitis Optica Spectrum Disorder
• Niemann-Pick Disease Type C
• Paroxysmal Nocturnal Hemoglobinuria (PNH)
• Pompe Disease
• Primary Hyperoxaluria Type 1
• Spinal Muscular Atrophy
• Sporadic Inclusion Body Myositis
• Von Willebrand Disease