Primary Immunodeficiency

Yale New Haven Children's Hospital Pediatric Primary Immunodeficiency Center is the only complete pediatric immunology center in the state of Connecticut, providing our patients with comprehensive diagnoses and treatment.

Thanks to the latest immunology research underway at Yale School of Medicine, our patients have the unique opportunity to participate in and potentially benefit from research studies only offered here.

Symptoms

Primary immunodeficiency is a disease category that includes more than 150 inherited disorders of the immune system. These diseases can appear at any age, although the most severe diseases appear in early childhood.

Common symptoms include frequent, unusual or especially severe infections. Since these symptoms are also found in children without a primary immune deficiency, testing is typically required for diagnosis.

Diagnosis

The first step in diagnosing a primary immunodeficiency disease is by a complete evaluation of the patient’s immune system, which is done at the Pediatric Primary Immunodeficiency Center. The initial visit to our center may include:

• Questions about a patient’s medical and family history
• An in-depth physical exam
• Blood tests
• Breathing tests
• Radiographic tests

Treatment

Treatment ranges from “boosting” the immune system with vaccines to replacing it with a bone marrow cell transplant. One safe and effective treatment used is regularly giving the child immune protective replacement antibodies. This can be done at our pediatric infusion suite or in the comfort of your own home.

Immunological diseases we treat include:

• Periodic fever syndromes and autoinflammatory disorders
• Primary (genetic) immunodeficiency disorders
• 22q11.2 deletion syndrome
• Chronic granulomatous disease
• Chronic mucocutaneous candidiasis
• Combined and severe combined immune deficiencies
• Common variable immune deficiency
• Complement deficiencies
• Hereditary hemophagocytic lymphohistiocytosis
• Hyper IgM and Hyper IgE syndromes
• Wiskott-Aldrich syndrome
• X-linked agammaglobulinemia