Immunodeficiencies

The immune system is a complex network of cells, barrier tissues and organs whose function is to prevent, identify and eliminate infections and stop the development of cancer within the human body. Patients who have a defect in a component of the immune system may have an impaired ability to perform these functions and can be at risk for a variety of infections, and in some cases, have an increased likelihood for cancer development.

In adults, immune system defects develop more commonly from an environmental exposure, such as contracting a virus or taking a medication that suppresses the immune system, and are referred to as “secondary immunodeficiencies.” In contrast, children typically suffer from a “primary immunodeficiency,” a term used to identify patients born with the immune system defect.

With primary immunodeficiencies, a part of your child’s immune system may not work correctly or may be missing altogether. Because your child can become very sick with these disorders, early recognition of a possible immune deficiency and referral to a center with expertise in diagnosing and caring for patients with primary immunodeficiencies is extremely important. Your primary care physician may expect an immune deficiency if your child has an excessive number of infections, infections caused by organisms that do not typically cause disease, abnormal blood counts that indicate low or dysfunctional immune cells, abnormalities in organ systems that may be associated with immune deficiencies, a family history of a compromised immune system, or the development of multiple or abnormal cancers.

To assist in the early identification of immune deficiencies in patients, the state of Michigan is now screening all newborns with a blood test called a TREC assay to detect immune deficiencies associated with T-cells, an essential cell of the immune system. Without functional T-cells, your immune system has difficulty identifying and reacting to foreign invaders resulting in frequent severe infections. The TREC assay will identify infants with absent or extremely low number of T-cells through a blood test taken shortly after birth as part of the newborn screen.

If your child is found to have an abnormal TREC assay, this does not mean that your child has an immunodeficiency. However, the test does mean that additional testing is necessary for your child and the state of Michigan will be contacting you and your primary care physician about how to obtain an additional blood test. If this second blood test is abnormal, you will then be asked to bring your child to a center that specialized in the care of immunodeficiencies, such as the University of Michigan Mott Children’s Hospital, for further testing, education and possible treatment.

This test will not detect all immunodeficiency diseases, but only conditions with low T-cell numbers such as a disorder known as Severe Combined Immunodeficiency.

At the University of Michigan, we care for patients with primary immunodeficiencies within our multidisciplinary Immuno-Hematology Clinic.

Among the immunodeficiency conditions that we treat here at the University of Michigan are:

  • SCIDs (Severe Combined Immunodeficiencies)
  • CVID (Common Variable Immunodeficiency)
  • Transient hypogammaglobulinemia of infancy
  • Ataxia-Telangiectasia
  • Blooms syndrome
  • Hypogammaglobulinemia
  • XLA (X-linked Agammaglobulinemia)
  • IPEX (Immune Dysregulation, Polyendocrinopathy, Enteritis, X-linked)
  • WAS (Wiskott-Aldrich Syndrome)
  • HIGM2-HIGM4 (Autosomal Recessive Hyper IgM Syndrome)
  • DiGeorge Syndrome
  • HIM (X-linked-hyper IgM syndrome / X-linked CD40 Ligand Deficiency)
  • NEMO (X-linked NFkB Essential Modifier Deficiency)

Treatment for immunodeficiency disorders will vary on the type of disorder and health of your child, and can include medication, chemotherapy, immunoglobulin therapy, enzyme replacement, home-based therapies or a bone marrow transplant. In order to meet the needs of your child, our clinic has physicians with expertise in the crucial areas affected by immunodeficiencies, including immunology, hematology, oncology, genetics, infectious disease and bone marrow transplant. Our clinic will work closely with you and your primary physician to provide the best care for your child both at the University of Michigan C.S. Mott Children’s Hospital and at your home.

Schedule an appointment by calling 1-877-475-MOTT.