IRAK4 deficiency

NEMO, IKBA and IRAK4 (IL-1-receptor-associated kinase-4) mutations result in novel primary immunodeficiencies affecting the NF-kB signalling pathway. The infectious phenotypes associated with each of the three genetic disorders are markedly different. IRAK4 deficiency patients are susceptible to pyogenic bacteria and resistant to most other common microorganisms, including mycobacteria, viruses and fungi.

Alternative names

IRAK4D

Classification

  • Defects of innate immune system, receptors and signaling components

Inheritance

Autosomal recessive

OMIM

#607676 IRAK4 deficiency

*606883 Interleukin 1 receptor-associated kinase 4

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Nemo deficiency

Incidence

Incidence is not known.