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Primary Immunodeficiencies
Leadership
About primary immunodeficiency research
Primary immunodeficiency disorders, which result from inherited genetic defects, affect thousands of children and adults. Many of these disorders go undiagnosed or misdiagnosed. Primary immunodeficiencies occur in as many as 2,000 children each year.
Repeated treatment of symptoms, such as infections, rather than the underlying disease results in mortality and morbidity. Many babies born with severe combined immune deficiency die before the disease is diagnosed. Children and adults often experience days lost from school and work, significant medical expenses and isolation. With more precise and earlier diagnostic testing, the recognition, treatment and quality of life for patients with primary immunodeficiencies continues to improve.
Severe combined immunodeficiency is the most lethal version of all primary immunodeficiency diseases. It often is called ''Boy in the Bubble" disease after the movie of the same name, starring John Travolta, the true story of a boy with SCID who died at age 12 after spending his life in a plastic bubble because he was so vulnerable to infection. SCID causes a defect in the white blood cells that helps protect the body from viruses, bacteria and fungi. Doctors know that SCID is the result of a mutation in one of at least 12 genes, and bone marrow transplants presently are the best treatment.
Other common primary immunodeficiencies include:
DNA repair defects.
Eosinophilic gastroenteritis.
Hemophagocytic lymphohistiocytosis (HLH).
Monocyte defects.
Neutrophil defects.
Periodic fever syndromes/autoinflammatory disorders.
Severe combined immune deficiency (SCID).
Specific antibody deficiencies.
Wiskott-Aldrich syndrome.
X-linked agammaglobulinemia/Bruton's agammaglobulinemia.
Research highlights
On Jan. 1, 2008, Wisconsin became the first state in the nation to screen all newborns for SCID. SCID is a genetic disorder that is fatal without early diagnosis and treatment. Babies diagnosed can be referred for potentially life-saving treatment.
The Wisconsin Department of Health and Family Services approved moving to phase two of the pilot screening program in which screening for SCID will be routine for all newborns in Wisconsin (estimated at 70,000 annually). The screening has been added to the current panel of 47 other tests that are given to newborns.
The program's Clinical Immunodiagnostic and Research Laboratory combines academic, scientific and technical strengths to provide state-of-the-art clinical flow cytometric assays. The lab participates in a multidisciplinary approach through collaborative efforts with the Asthma/Allergy Center, Primary Immunodeficiency Program, Blood and Marrow Transplant Program and Hematology/Oncology programs at Children's Hospital to provide the best care for patients.
The lab offers specialty testing to aid in the detection, diagnosis and treatment of immunodeficiencies and other related hematopoietic disorders. The flow cytometric assays define immunodeficiencies by:
- Basic immune evaluation: T, B and NK cell subset and myeloid analysis.
- Neutrophil killing: oxidative burst capacity.
- T cell function: proliferation response to various stimuli.
- B cell memory and non-memory subset: evaluate CVID presence.
- Natural killer cell function: killing ability of NK cells.
- T Cell surface marker evaluation: upregulation of activation signals.
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