Cellular Immunodeficiencies

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​Severe Combined Immune Deficiency and Combined Immune Deficiency
Severe Combined Immune Deficiency (SCID, pronounced "skid") is a potentially fatal primary immunodeficiency in which there is combined absence of T-lymphocyte and B-lymphocyte function. There are at least 13 different genetic defects that can cause SCID. These defects lead to extreme susceptibility to very serious infections. This condition is generally considered to be the most serious of the primary immunodeficiencies.

Fortunately, effective treatments, such as stem cell transplantation, exist that can cure the disorder. The future holds the promise of gene therapy for several more types of SCID.

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Wiskott-Aldrich Syndrome
Wiskott-Aldrich syndrome (WAS) is unique among primary immunodeficiency diseases because, in addition to being susceptible to infections, patients have problems with abnormal bleeding.

The bleeding problems are the result of unusually small, dysfunctional platelets (blood cells that play an important role in the formation of blood clots). For patients with WAS, this leads to unique health challenges that are not typically seen in other immunodeficiency disorders.

Milder forms of the disease that have some, but not all of the usual WAS symptoms, also exist, which can sometimes cause delays in making a correct diagnosis.

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Hyper IgM Syndromes
Patients with Hyper-IgM (HIGM) syndrome are susceptible to recurrent and severe infections and in some types of HIGM syndrome opportunistic infections and an increased risk of cancer as well.

The disease is characterized by decreased levels of immunoglobulin G (IgG) in the blood and normal or elevated levels of IgM. A number of different genetic defects can cause HIGM syndrome. The most common form is inherited as an X-chromosome linked.

Most of the other forms are inherited as autosomal recessive traits and therefore can affect both boys and girls.

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Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. People with A-T have an unsteady, wobbly gait (ataxia) that gets worse as they get older; dilated, corkscrew shaped blood vessels (telangiectasia) on the whites of the eyes and on sun exposed areas of skin; immunodeficiency involving both humoral (Blymphocytes) and cellular (T-lymphocytes) immunity; and a high rate of cancer.

Not all features of the syndrome are present in all people with A-T, and the severity of each symptom also varies a great deal from person to person.

For example, some patients with A-T may have a severe humoral immunodeficiency preventing them from making antibodies and requiring immunoglobulin replacement therapy. Others with A-T may be able to mount completely normal antibody responses to vaccines and infections, and have no evidence of immunodeficiency.   

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DiGeorge Syndrome
DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections.

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