Combined immunodeficiency is said to be a kind of primary immune deficiency disease (PIDD) in which numerous parts of the immune system are believed to be affected. There are about 150 known PIDDs. Roughly 500,000 people in the United States are thought to be detected with a PIDD, while many more stay undiagnosed.

A study from the National Institutes of Health has recognized a genetic mutation that reports for a puzzling condition found in people with an inborn immunodeficiency, known as combined immunodeficiency. It may be described by a collection of severe health problems, as well as unrelenting bacterial and viral skin infections, severe eczema, acute allergies and asthma, and cancer.

This study was headed by Helen Su, M.D., Ph.D., at the National Institute of Allergy and Infectious Diseases (NIAID), and included colleagues from NIAID and the National Cancer Institute (NCI).

NIAID Director Anthony S. Fauci, M.D, commented, “This study exemplifies their commitment to improving the lives of people with these diseases by trying to uncover the causes of these disorders and thereby better understanding how to treat them.”

The NIAID and NCI investigators apparently recognized that some patients with a vague form of combined immunodeficiency apparently shared sufficient clinical features to make it probable that the cause might be a common genetic mutation. Formerly, these people were thought to have an alternative form of hyper-immunoglobulinema E syndrome (HIES), a disorder described by augmented levels of a class of antibodies called as immunoglobulin E, on the surface and complete bacterial and fungal infections, and atopic dermatitis, also called as eczema.

This recently described group, nevertheless, had far more severe eczema than is characteristic in individuals with alternative HIES. They also had apparently widespread and difficult-to-manage viral infections of the skin, like warts, molluscum contagiosum, a kind of poxvirus that may only infect the skin and herpes simplex. Few of them in this group apparently also developed skin cancers, as well as lymphoma of the skin.

Dr Su commented, “Even though these individuals were diagnosed with a more uncommon form of HIES, they were still considered to have a mystery disease, because they had severe allergies and had developed cancers.”

Via a system known as comparative genomic hybridization, a procedure by which huge quantities of DNA may be fixed to a computer chip and examined for alterations in the genes. The genes were apparently analyzed in the tissue samples from five different groups. The first group comprised of the 11 individuals with the unidentified immunodeficiencies. The second group consisted of the alternative form of HIES. The third group had people with characteristic HIES. The fourth group was those with other immunological diseases. And the last group apparently had healthy people.

It was seen that individuals with a rare form of HIES apparently had mutations in a gene known as DOCK8 that apparently resulted in deletions in parts of the gene. The standard function of DOCK8 is at present not known.

As opposed to healthy people, individuals with DOCK 8 mutations apparently had lesser CD8 positive T cells, immune cells required to combat viral infections; smaller amount antibody-producing B cells; and more amount of eosinophils i.e. the immune cells apparently related to allergy.

As Dr. Su, these results specify that DOCK8 may be vital for protection against viral infections and for averting the development of cancer and allergies.

These findings may mean that people with this uncommon disease could receive a more precise diagnosis. Recognizing a genetic cause for the disease apparently provided some hope to some of those diagnosed who had fought an unidentified immune disease for several years.

This study was published in the New England Journal of Medicine.