Innate Immune Disorders

Other Primary Cellular Immunodeficiencies
Cellular immunodeficiencies (T-cell deficiency) discussed in previous chapters included Severe Combined Immune Deficiency (SCID), Ataxia-Telangiectasia, Wiskott-Aldrich Syndrome and DiGeorge Syndrome.

Some patients with less common cellular immunodeficiencies may have severe immunodeficiency with early onset and significant morbidity and mortality while others have only mild problems. Patients with these types of deficiencies have some defect of their T-cell (cellular) immune system resulting in a different spectrum of infection problems than those individuals with typical antibody deficiency. These include deep-seated bacterial infections, viral and fungal infections, tuberculosis and other mycobacterial infections.

Cellular immunodeficiencies are usually more difficult to treat and may need cellular reconstitution via hematopoietic stem cell transplantation or eventually perhaps gene therapy.

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Chronic Granulomatous Disease and Other Phagocytic Cell Disorders
Chronic Granulomatous Disease (CGD) is a genetic (inherited) disease in which the body’s cells that eat certain invaders (also called phagocytes) do not make hydrogen peroxide and other chemicals needed to kill certain bacteria and molds.

As a result of this defect, patients with CGD get more infections, and they also get too many immune cells forming “knots” called granulomas, hence the name of the disease. Another problem in CGD is that patients can get excessive inflammation even when no infection is present, and that inflammation can cause diarrhea, and bladder and kidney problems.

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Complement Deficiencies
Complement is the term used to describe a group of serum proteins that are critically important in our defense against infection. There are deficiencies of each of the individual components of complement.

Patients with complement deficiencies encounter clinical problems that depend on the role of the specific complement protein in normal function.

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Hyper IgE Syndrome
Hyper IgE Syndrome (HIES) is a rare primary immunodeficiency disease characterized by eczema, recurrent staphylococcal skin abscesses, recurrent lung infections, eosinophilia (a high number of eosinophils in the blood) and high serum levels of IgE. Most cases of HIES are sporadic, but some familial cases of HIES have been reported, with either an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance.

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Innate Immune Defects
Primary immunodeficiency diseases are disorders in which part of the body's immune system is missing or does not function properly. These disorders can be divided into two groups:

1) Those less common conditions with defects in the innate immune system, a system of cells and mechanisms that defend the host from infection in a non-specific manner.

2) Those conditions due to defects of the adaptive immune system in which defense is carried out in a more specific manner by T-cells and antibody producing B-cells.

This chapter focuses only on the following innate immune disorders: Tolllike receptor (TLR), natural killer (NK) and interferon-γ/interleukin 12 (IFN-γ/IL-12) defects.

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NEMO Deficiency Syndrome
The NEMO deficiency syndrome is a complex disease caused by genetic mutations in the X-linked NEMO gene (also known as IKK gamma or IKKG).

It can involve many different parts of the body and often manifests in different ways in different individuals. The most common symptoms are skin disease and susceptibility to certain bacterial infections that can be severe and affect virtually any part of the body.

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