DISEASE: Immunodeficiency, developmental delay, and hypohomocysteinemia
Entry
H03069 Disease
Name
Immunodeficiency, developmental delay, and hypohomocysteinemia
Description
Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) is an early-onset multisystem disorder characterized by failure to thrive, immunodeficiency, and neurological symptoms. The unique combination of white matter lesions, hypohomocysteinaemia, and increased G-6-P-dehydrogenase activity will facilitate early diagnosis and therapeutic intervention. It has been reported that activating de novo mutations in NFE2L2, which encodes NRF2, cause this disease. NRF2 is a transcription factor that regulates the expression of more than 200 genes. It is suggested that NRF2 accumulation leads to widespread misregulation of gene expression and an imbalance in cytosolic redox balance.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H03069 Immunodeficiency, developmental delay, and hypohomocysteinemia
