Care that kids deserve for complicated conditions

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When a child suffers from too many infections, it isn’t always easy to pinpoint the reason. Because we only care for children, we’re experts in the ways the immune system develops from birth to young adulthood. We take all that knowledge and expertise with pediatric conditions to formulate the best treatment plan to help your child.

Here are some of the conditions we treat:

  • Ataxia-telangectasia (AT)—A rare inherited disorder that affects the immune system and nervous system
  • Autoimmune lymphoproliferative syndrome (ALPS)—An inherited disorder in which too many white blood cells gather in the lymph nodes, spleen and liver, which can cause the organs to enlarge and problems with the blood 
  • Chronic granulomatous disease (CGD)—An inherited disorder in which some immune system cells can’t fight off certain bacteria and fungi 
  • Common variable immunodeficiency (CVID)—A group of disorders in which antibody levels are too low and don’t function normally 
  • DiGeorge syndrome—Also known as velocardiofacial syndrome (VCFS), a disorder caused by a defect in chromosome 22, which leads to a weakened immune system, feeding and speech issues, and sometimes heart problems
  • Hemophagocytic lymphohistiocytosis (HLH)—A severe condition in which the immune system is overactive, leading to whole-body challenges
  • Hyperimmunoglobulin E syndrome (HIES)—Also known as Job’s syndrome, this inherited disease results in frequent skin and lung infections
  • Hyperimmunoglobulin M syndrome (HIGM)—A family of inherited disorders that leave the body vulnerable to certain infections 
  • Selective immunoglobulin A (IgA) deficiency—A common problem where one type of antibody (IgA) is missing; some people have no symptoms, while others have frequent sinusitis, ear infections, allergies or autoimmune diseases 
  • Severe combined immunodeficiency (SCID)—The most severe group of inherited disorders; SCID patients have abnormalities of the immune system that make it almost completely unable to work
  • Transient hypogammaglobulinemia of infancy (THI)—A disorder in which children temporarily have too little immunoglobulin (an antibody)
  • Wiskott-Aldrich syndrome (WAS)—A disease, usually affecting boys, in which the immune system doesn’t work properly and the blood has trouble clotting 
  • X-linked agammaglobulinemia (XLA)—A condition, usually affecting boys, in which there isn’t enough of a special type of white blood cell that helps protect against infection
  • X-linked lymphoproliferative disease (XLP)—A disorder, usually affecting boys, in which the immune system doesn’t work properly and, in particular, can’t fight off the Epstein-Barr virus (which causes mononucleosis)

For an overview of how the immune system works and links to more information on specific conditions, please also refer to the Immune Deficiency Foundation.

Treatment is a team effort

At Children’s, we believe in looking at the big picture when it comes to treating a child. Our immunology program works closely with other programs such as rheumatology and blood disorders to provide even broader expertise for illnesses that affect multiple systems of the body.

We also have some unique multidisciplinary clinics. For example, we have one of the largest programs in the country for DiGeorge syndrome/velocardiofacial syndrome. Those patients can see immunology, ear, nose, throat (ENT)genetics, speech therapy, and any other necessary departments - all in one visit. A separate clinic is the Immune Dysregulation Clinic (IDC), created for children with both weakened and over-activated immune systems. In IDC, patients are seen by immunology, rheumatology and hematology/oncology specialists.

We provide many other treatments and services, including:

  • Initial immunology evaluation with reporting to the family, their primary care physician and other specialists involved in the child’s medical care
  • Ongoing evaluation and care for children with immune deficiencies
  • Screening for associated medical problems seen in children and teens with immune deficiency, such as pulmonary (breathing), gastrointestinal (gut), ENT (ears, nose and throat) and neurologic (brain, behavior) problems; autoimmune disease; and hematologic (blood cells) abnormalities
  • Management of infectious disease and immunologic therapy for children with immunodeficiency and related infections, including antibiotics, IV and subcutaneous gammaglobulin replacement therapy, and immunomodulatory biologic medications
  • Telephone consultations with pediatricians concerned their patient may have an immune disorder 
  • Evaluation and coordination for infants with abnormal newborn screening results for severe combined immunodeficiency (SCID)

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