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Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)

Disease ID:1264
Name:Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)
Associated with:1 target
1 immuno-relevant target
IMDDHH is a early onset multisystem disorder that is characterised by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Congenital heart defects and liver involvement are variably present.
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OMIM: 617744


nuclear factor, erythroid 2 like 2
Comments:  IMDDHH is associated with heterozygous missense mutations in the NFE2L2 gene. The mutations detected affect the N-terminal Neh2 domain of NRF2 that facilitates binding to inhibitory KEAP1 proteins (so KEAP1 inhibition of NRF2 is reduced), and this subsequently leads to chronic activation of NRF2-responsive stress response genes.


No ligand related data available for Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH)


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1. Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F et al.. (2017) Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun, 8 (1): 818. [PMID:29018201]