Nuclear factor-kappa B Essential Modulator <unk>  is a rare type of primary immunodeficiency disease that has a highly variable set of symptoms and prognoses. It mainly affects the skin and immune system but has the potential to affect all parts of the body, including the lungs, urinary tract and gastrointestinal tract. It is a monogenetic disease caused by mutation in the IKBKG gene (IKKγ, also known as the NF-κB essential modulator, or<unk> .<unk>  is the modulator protein in the IKK inhibitor complex that, when activated, phosphorylates the inhibitor of the NF-κB transcription factors allowing for the translocation of transcription factors into the nucleus. The link between IKBKG mutations and<unk>  deficiency was identified in 1999. IKBKG is located on the X chromosome and is X-linked therefore this disease predominantly affects males, However females may be genetic carriers of certain types of mutations. Other forms of the syndrome involving<unk> -related pathways can be passed on from parent to child in an autosomal dominant manner – this means that a child only has to inherit the faulty gene from one parent to develop the condition. This autosomal dominant type of<unk>  can affect both boys and girls.
NEMO deficiency syndrome
X linked thrombocytopenia
Harris platelet syndrome
3-M syndrome
EEM syndrome
Rh deficiency syndrome
Acquired haemophilia
Leukocyte adhesion deficiency-1