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The University of Chicago Medicine - Comer Children's Hospital

Primary Immunodeficiency Disorders

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 multidisciplinary Primary Immunodeficiency Program at the University of Chicago Medicine Comer Children’s Hospital takes an integrated approach to the diagnosis, evaluation and treatment of 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 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.

What are Primary Immunodeficiency Disorders?

A healthy immune system protects the human body from infection. Primary immunodeficiency disorders occur when a genetic (inherited) 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.

Types of Primary Immunodeficiencies

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
  • 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
  • Fanconi anemia

Comprehensive Diagnosis, Evaluation and Treatment of Pediatric Immune Disorders

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:

  • Antibiotics: Expert management of infections through skilled use of anti-infective medications.
  • Immunoglobulin therapy: Intravenous infusions of antibodies that boost a child's immune system.
  • Blood stem cell transplant: 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.
  • Research-based therapies: At the University of Chicago Medicine, we are always studying and developing new therapeutic approaches.

Learn more about the multidisciplinary team of experts in the Primary Immunodeficiency Program.