Infantile-onset multisystem autoimmune disease

Definition:

Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.

References:

[1]. Alice Y Chan, et al. A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. J Exp Med. 2016 Feb 8;213(2):155-65. [Content Brief]

[2]. Jefferson Terry, et al. Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation. Pediatr Dev Pathol. 2020 Aug;23(4):306-311. [Content Brief]

[3]. Sarah E Flanagan, et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet. 2014 Aug;46(8):812-814. [Content Brief]

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