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Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome 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 . [ 1 ]
The configuration of those maternal and fetal genotypes (TT mother/TT daughter or TT mother/T son) is also associated with the level of NEMO gene expression. [10] NEMO deficiency syndrome is a rare genetic condition relating to a fault in IKBKG. It mostly affects males and has a highly variable set of symptoms and prognoses.
For this reason, the condition affects males more than it affects females, this is due to the fact that females carry two copies of the X chromosome, one of which may carry a healthy copy of the gene, while men on the other hand carry only one copy of the X chromosome, the other copy being the Y chromosome they inherited from their fathers; if ...
Primary immunodeficiencies are disorders in which part of the body's immune system is missing or does not function normally. [1] To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins.
Hyperimmunoglobulin E syndrome (also known as Job's Syndrome) Common variable immunodeficiency (CVID): B cell levels are normal in circulation but with decreased production of IgG throughout the years, so it is the only primary immune disorder that presents onset in the late teens years.
NEMO deficiency syndrome is a rare genetic condition relating to a fault in IKBKG that in turn activates NF-κB. It mostly affects males and has a highly variable set of symptoms and prognoses. It mostly affects males and has a highly variable set of symptoms and prognoses.
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Job syndrome (STAT3 deficiency) Comel-Netherton syndrome; PGM3 deficiency; Hypohidrotic ectodermal dysplasia. NEMO deficiency; IKBA deficiency; Calcium channel defects ORAI1 deficiency; STIM1 deficiency; Transcobalamin 2 deficiency; Immunodeficiency with multiple intestinal atresias (TTC7A deficiency) Hepatic venoocclusive disease with ...