Immunoglobulin A deficiency 2- MedGen UID:
- 372182
- •Concept ID:
- C1836032
- •
- Disease or Syndrome
Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.
Immunodeficiency 51- MedGen UID:
- 934770
- •Concept ID:
- C4310803
- •
- Disease or Syndrome
Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016).