Category
page 1Diseases of immune dysregulation
Chediak-Higashi syndrome
rare autosomal recessive disorder related to lysossomal function and the CHS1 gene
hemophagocytic lymphohistiocytosis
uncommon hematologic disorder seen more often in children than in adults
autoimmune polyendocrine syndrome
autoimmune disease of endocrine system with auto-reactivity against endocrine organs
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11
Griscelli syndrome
autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin
X-linked lymphoproliferative disease
lymphoproliferative disorder