Primary Immunodeficiency Disease Information

Inheritance
Many diseases have a genetic origin and are passed on through families. Most primary immunodeficiency diseases are inherited in one of three different ways: X-linked recessive, autosomal recessive or autosomal dominant.

Family history and laboratory studies can be helpful in establishing the possible role of genes or chromosomes in a particular primary immunodeficiency disease and may be useful to identify a particular pattern of inheritance.

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Laboratory Tests
Laboratory studies are necessary to determine the presence of a primary immunodeficiency disease. This is usually prompted by an individual experiencing some clinical problems, particularly recurrent and/or chronic infections.

Information regarding the types of organisms, the sites of infection and the therapies required to treat the infections often help focus the laboratory studies. The patient’s medical history and physical exam direct the appropriate choice of laboratory tests.

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Infections
Infections are the hallmark of a primary immunodeficiency. For many patients, a primary immunodeficiency diagnosis is suspected and made only after the patient has had recurrent infections or infections that are uncommon or unusually severe. This section discusses common infections.

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General Care
The diagnosis of a primary immunodeficiency disease means different things to different people.

For most, it represents both an end and a beginning. It is the end of a quest for answers to the questions: Why am I always sick? Why do I have more infections than anyone else does? Why is my child sicker than his brothers, sisters and friends? Sometimes this quest can take a very long time and involve many care providers and lengthy diagnostic testing.

Nevertheless, once the diagnosis has been made, it represents a beginning - the beginning of a life spent moving forward while dealing with a chronic illness.

It is seldom necessary to make major life changes in response to the diagnosis of a primary immunodeficiency disease, but some modifications may be needed. Remember that most people with primary immunodeficiency diseases are able to live full and (relatively) normal lives. Adopting a healthy life style is the key to ensuring that this is the case.

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Immunoglobulin Therapy and Other Medical Therapies for Antibody Deficiencies
There are several specific medical therapies available for patients with primary immunodeficiency diseases involving the humoral immune system.

These illnesses include X-Linked Agammaglobulinemia (XLA) and Common Variable Immune Deficiency (CVID), among others, and are characterized by a lack of and/or impaired antibody function. Effective therapies for these disorders are a reality for most patients, and optimize their health, improve their quality of life and allow them to become productive members of society.

In this chapter, therapy for antibody disorders will be discussed.

For all of these therapies, individual risk/benefit ratios should be discussed with your healthcare provider.

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Stem Cell Therapy and Gene Therapy
Hematopoietic stem cell transplantation (HSCT) represents the mainstay of treatment for several severe forms of primary immunodeficiency diseases. Progress in cell manipulation, donor selection, the use of chemotherapeutic agents, and the prevention and management of transplant related complications has resulted in significant improvement in survival and quality of life after HSCT.

In some forms of severe primary immunodeficiency diseases, gene therapy may represent a valid alternative for patients who lack acceptable stem cell donors.

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Newborn Screening
Severe Combined Immune Deficiency (SCID) leads to life-threatening infections unless the immune system can be restored through a bone marrow transplant, enzyme replacement or gene therapy.

Infants with SCID who lack a family history have been diagnosed in the past only after developing serious infections. Early identification of SCID through screening of all newborns can enable possible life-saving intervention before infections occur.

Currently, several  US states have adopted the T-cell receptor excision circle (TREC) assay as part of their routine newborn screening programs. TREC screening has identified infants with the most forms of SCID and also some infants with very low T-lymphocytes due to other conditions.

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Primary Immunodeficiency Diseases and Allergies
Allergic diseases and symptoms occur because of an active immune system that reacts to things that are usually harmless, such as pollens, pet dander or foods.

For that reason, it can be puzzling that people with immune deficiencies would have allergies. In fact, taken as a whole, people with immune deficiencies probably have a far greater disease burden of allergy than the general population, although perhaps not in the same patterns.

It is generally true that people with immunodeficiencies do not have problems with allergies as often as those who are immunocompetent. However, specific changes to the immune system in some immune deficiency diseases may increase the risk of the developing allergies.

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