Monogenic form of autoimmune diabetes as a part of dysregulation of immune system

Authors: V. Straková;  P. Dušátková;  L. Elblová;  Š. Průhová
Authors‘ workplace: Pediatrická klinika 2. lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Motol, Praha
Published in: Čes-slov Pediat 2018; 73 (2): 104-109.
Category: Review

Věnováno významnému životnímu jubileu prof. MUDr. Lidky Lisé, DrSc.


Type 1 diabetes (T1D), a disease resulting from a combination of polygenic mode of inheritance and environmental factors accounts for 95% of all diabetes in children. Monogenic forms of autoimmune diabetes have been considered extremely rare. However, it has been shown recently that patients with autoimmune diabetes caused by a mutation in a single gene are hidden among children with „common“ T1D. Single gene defect leads to dysregulation of immune system and development of diabetes or other autoimmune diseases.

Candidate genes causing monogenic forms of autoimmune diabetes are the AIRE gene causing APS-1, the FOXP3 gene responsible for IPEX syndrome and the IL2RA gene for IPEX-like syndrome respectively. Mutations in the STAT3, CTLA4, LRBA or STAT1 genes are described in T1D occurring with autoimmune cytopenias (neutropenia, thrombocytopenia, autoimunne haemolytic anemia). Mutations in the ITCH gene causing multisystem autoimmune disease are extremely rare.

Correct early diagnosis of monogenic forms of autoimmune diabetes is essential for the causal treatment which also includes the allogenic bone marrow transplantation in some cases.

Key words:
autoimmune diabetes, APS-1, STAT3, CTLA4, AIRE, monogenic diabetes


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Neonatology Paediatrics General practitioner for children and adolescents
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