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4A01.21 Immune dysregulation syndromes presenting primarily with autoimmunity

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

code elsewhere

• Autoimmune polyendocrinopathy type 1  (5B00)
• Syndromic multisystem autoimmune disease due to ITCH deficiency  (4A43.Y)
• Aicardi-Goutières syndrome  (5C55.2)
• Spondylometaphyseal dysplasia with combined immunodeficiency  (LD24.4)

synonyms

• Immune dysregulation syndromes presenting primarily with autoimmunity
• Syndrome with autoimmunity
• Immunodeficiency syndromes presenting primarily with autoimmunity
• FADD-related immunodeficiency
• X-linked immune dysregulation – polyendocrinopathy – enteropathy
• Autoimmune enteropathy type 1
• IPEX - [immunodysregulation polyendocrinopathy enteropathy X-linked syndrome]
• immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
• Immunodeficiency due to CD25 deficiency
• SCID - [severe combined immunodeficiency] due to interleukin-2 receptor alpha chain deficiency
• LRBA deficiency
• LRBA deficiency - [Lipopolysaccharide-responsive, beige-like anchor protein] deficiency
• CTLA4-Mutation

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