Primary immunodeficiency disorders in children can be difficult to detect and diagnose. Looking for answers, families often go from specialist to specialist seeking help. The primary immunodeficiency program at Comer Children’s takes an integrated approach, involving a variety of specialists who work together to evaluate, diagnose and treat this complex group of diseases.

We bring you the best minds in clinical immunology, hematology, transplant and infectious diseases in one convenient clinic — streamlining your child's care, getting you answers quickly and offering access to the latest treatment options.

We welcome the opportunity to provide a second opinion on the diagnosis and/or treatment plan for a primary immunodeficiency disorder. We are dedicated to giving you a second opinion on a timely basis.

A healthy immune system protects the human body from infection. Primary immunodeficiency disorders occur when a genetic defect weakens or blocks the immune system. This can result in a chronic illness that increases vulnerability to infection. Some forms of primary immunodeficiencies are mild and easily treated while others are potentially lethal and require early and aggressive treatment.

The first indication of primary immunodeficiency disorders is often recurring or uncommon infection. These disorders can be associated with other conditions such as cytopenia (low white or red blood cell count) and bone marrow failure (an inherited or acquired disease in which the bone marrow does not make enough blood cells). In some cases, primary immunodeficiencies occur with other genetic organ diseases such as skeletal or heart abnormalities.

Primary immunodeficiency disorders are classified and named according to the mechanism in the immune system that is affected. Some of the more commonly seen primary immunodeficiencies we treat are:

  • Ataxia telangiectasia
  • Chronic granulomatous disease
  • Common variable immune deficiency
  • Complement deficiencies
  • DiGeorge syndrome
  • Fanconi anemia
  • Hyper IgM syndrome
  • IgG subclass deficiency and specific antibody deficiency
  • Omenn syndrome
  • Selective IgA deficiency
  • Severe combined immune deficiency
  • Wiskott-Aldrich syndrome
  • X-linked agammaglobulinemia

Diagnosis, Evaluation & Treatment

Our highly experienced experts in clinical immunology, hematology and infectious diseases work together to evaluate and identify the type of immune disorder. Sophisticated diagnostic tools include detailed studies of lymphocytes and other white blood cells, bone marrow aspirate and biopsy, molecular analysis and DNA sequencing.

We design a care plan tailored to each patient. Treatment may include a combination of the following strategies.

Expert management of infections through skilled use of anti-infective medications.

Intravenous infusions of antibodies that boost a child's immune system.

Transplantation of donated healthy blood stem cells to restore the blood-forming cells of the bone marrow in order to create a new immune system for the patient. Other types of cell replacement therapy may also be considered.

At Comer Children's, we are always studying and developing new therapeutic approaches.

Frequently Asked Questions

Below are answers to some questions our patient's parents frequently ask about primary immunodeficiency disorders.

Primary immunodeficiency disorders are a group of inherited conditions (present at birth) that affect the immune system. They are considered primary because they are not the result of (or secondary to) another illness, drug treatment or environmental factors.

Primary immunodeficiency disorders are caused by a genetic mutation in the cells of the body’s immune system. They are not contagious; however, an infection contracted as a result of the weakened immune system may be contagious. A recurrent or unusual infectious disease is frequently the first sign of a primary immunodeficiency.

Diagnostics for primary immunodeficiencies includes a medical history, physical exam, sophisticated blood tests, bone marrow aspirate and biopsy, molecular analysis and DNA sequencing. In some cases, patients may also undergo imaging tests such as MRI or CT. Newborns are automatically screened for severe combined immunodeficiency (SCID), a life-threatening disease that occurs when a child’s bone marrow does not produce functioning white blood cells. Comer Children's is working with the State of Illinois to develop a core program for evaluation of all newborns for immunodeficiency.

Primary immunodeficiency diseases can be difficult to diagnose. Seeking the combined expertise of specialists in clinical immunology, hematology, transplant and infectious diseases may provide a more comprehensive perspective on these complex conditions. The primary immunodeficiency program at Comer Children’s consists of an integrated team of experts — all leaders in their fields — who work together to accurately diagnose each patient and to develop the most effective care plan for their condition.

For many children with a primary immunodeficiency, symptoms are mild and the illness may never be detected or cause problems. For children with a severe primary immunodeficiency, early detection, diagnosis and treatment are critical. Immunoglobulin therapy does not cure the disease, but gives patients antibodies to fight infection. Stem cell transplant, which uses cells from a donor to help a patient create a new immune system, only is recommended for the most serious cases of primary immunodeficiency. Stem cell transplant is a cure in most instances.

Scientists are exploring gene therapy treatment to replace the defective gene that is the basis of many primary immunodeficiency disorders. Although in an early stage for many immunodeficiency diseases, this approach is likely to be effective in the next five to ten years.