Immunology is the study of the immune system, which is the body's natural defense against infection. Our Immunology team diagnoses and treats both children and adults who have primary immune deficiency disorders (PIDDs/Inborn Errors of Immunity). There are more than 400 of these complex conditions. People with PIDDs are born with immune systems that are not working properly or that are missing needed parts. This makes them more open to serious infection and illness. Some of these conditions can run in families and be passed from generation to generation.
Seattle Children’s is one of the few places in the world where doctors are both carrying out research and providing treatment for primary immune deficiency disorders. Our experts in immunology are known around the world for their research into new ways to diagnose, treat and cure PIDDs. This allows us to use what we learn to provide the most advanced care for people with PIDDs. We work closely with Fred Hutchinson Cancer Research Center and the Seattle Cancer Care Alliance to coordinate care for our patients who need bone marrow transplants and gene therapy.
Conditions We Treat
Children’s Immunology team diagnoses and treats many primary immune deficiency disorders, including:
SCID is a group of disorders that causes serious problems in the immune system. SCID usually shows up when your child is a baby and affects the blood cells that fight infection, T- and B-lymphocytes. Children with SCID have reduced numbers of these cells or they may not work right. This makes it hard for people with SCID to fight off viruses, bacteria and other microbes that cause infections. Children with SCID can be cured by a bone marrow transplant or gene therapy. On May 21, 2010, the Department of Health and Human Services announced the addition of SCID to the recommended uniform screening of all newborns. As of December 2018, all fifty states in the U.S. are screening for SCID. This allows for babies to be diagnosed with SCID before they become sick. The Immunology team at Seattle Children’s works closely with the Washington Department of Health to ensure all babies with an abnormal newborn screening for SCID are evaluated to ensure that treatment starts as soon as possible.
Agammaglobulinemia is a disorder that blocks the development of a type of blood cell called B-lymphocytes. Mature B-lymphocytes release substances called antibodies that fight infection. People with agammaglobulinemia don't have many antibodies in their blood to fight off infections. Patients with Agammaglobulinemia can be treated with infusions of antibodies called immunoglobulins. X-linked Agammaglobulinemia (XLA) is a form of Agammaglobulinemia that only affects boys.
CVID is a group of disorders that result in a person’s inability to make antibodies (the proteins that we make to fight infections) or autoimmune problems. People with CVID can be treated with infusions of antibodies called immunoglobulins.
Hyper-IgM syndrome (HIGM)
HIGM includes a group of disorders that result in a person not having enough of the most efficient infection-fighting antibodies called immunoglobulin G (IgG). People with HIGM usually have very low levels of immunoglobulin A (IgA) antibodies and high or normal levels of the immunoglobulin M (IgM). This makes it hard for them to fight off infections. The most common form of HIGM affects boys and is called x-linked Hyper-IgM.
CGD is a disorder that can be passed on from parent to child (genetic). It causes some infection-fighting white blood cells to be unable to break down bacteria. This makes it hard for people with CGD to get rid of certain types of bacteria and fungi, making them open to getting skin and lung infections.
WAS is a disorder that can be passed on from parent to child (genetic). People with WAS have very low numbers of the blood cells (platelets) that cause blood to stick together (clot). This can cause problems with bleeding. Because WAS also affects the immune cells that fight infections, people with the disorder can get infections and autoimmune diseases.
IPEX is a disorder that can be passed on from parent to child (genetic). People with IPEX lack a type of white blood cell that regulates the immune system, the body's natural defense against disease. Without the regulating white blood cell, the immune system can attack parts of the body itself. This can cause diarrhea, rash and sometimes diabetes.
HIES is a disorder that can be passed on from parent to child (genetic). It causes cells in the immune system to react abnormally to infections. This makes it hard for people with HIES to fight off infections, especially in the lungs and skin.
DiGeorge Syndrome is a disorder caused by abnormal migration and development of certain cells and tissues during fetal development. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections.
Primary Immune Dysregulation Disorders (PIRD)
Primary immune regulatory disorders are a growing subset of genetic diseases referred to as inborn errors of immunity. Unlike classical primary immunodeficiency disorders that typically present with severe, recurrent, or unusual infections, patients with PIRD often have immune-mediated symptoms like autoimmunity, autoinflammation/hyperinflammation, lymphoproliferation, malignancy, and/or severe allergic disease. The immune dysregulation clinic can help connect the diverse immune-mediated pathologies to a gene defect and/or particular therapy.