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ACAAI 2011: Immunology Can Identify Unusual Conditions

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Asthma and allergy patients would benefit from their physician taking a closer look at immunology, said M. Louise Markert, MD, PhD, Associate Professor at Duke University Medical Center in Durham, NC, during a plenary session at the American College of Asthma, Allergy and Immunology's annual meeting.

BOSTON--Asthma and allergy patients would benefit from their physician taking a closer look at immunology, said M. Louise Markert, MD, PhD, Associate Professor at Duke University Medical Center in Durham, NC, during a plenary session at the American College of Asthma, Allergy and Immunology’s annual meeting this morning.

Markert said three conditions in which immunology can greatly improve patients’ health are common variable immunodeficiency (CVID), hereditary angioedema, and atypical complete DiGeorge anomaly.

CVID is the second most prevalent primary immunodeficiency, she said. There is significant variability among patients in the immune/clinical phenotypes and delay in diagnosis is common. Patients typically have recurrent sinopulmonary infections, hypogammaglobulinemia with poor antibody function, and variable T cell defects. The majority (95 percent) of patients present after the age of 6 and the mean age of symptom onset is 23 for males and 28 for females.

Clinical presentation in adults includes recurrent chest infections, rhino-sinusitis, bronchiectasis, liver disease, malabsorption, increased risk for automimmune disease, lymphoid proliferation, and malignancy.

"Think of CVID in patients with recurrent sino-respiratory infections," Markert encouraged the audience. Diagnosis should be made using serum immunoglobulins, not just IgG and specific antibody titers (protein and carbohydrate). Therapy includes immunoglobulin replacement and possibly the rotation of antibiotics.

Hereditary angioedema (HAE) can present with swelling of extremities, abdominal pain, and occasional face, airway and genital swelling. Onset is prior to age 7 in half of patients. Before the development of therapies, mortality was 30 percent. HAE treatment includes long-term therapy for patients with a history of laryngeal involvement or debilitating attacks, Markert said, as well as attenuated androgens, biologics, and prophylaxis for planned stressors.

"A delay of diagnosis is very common because no one thinks of C1 INH," she said. The delay can have several adverse effects on patients, including risk of death from respiratory compromise, narcotic addiction from treating abdominal pain, needless surgery and psychological symptoms if the patient is diagnosed with hysteria.

Atypical complete DiGeorge anomaly is not a food allergy but often mistaken for one. Patients usually have findings of complete DiGeorge anomaly plus rash and lymphadenopathy that presents at any time after birth, circulating oligoclonal T cells and naïve T cells less than 5 percent. "If the diagnosis is not made, an infant will likely die of infection after months of illness," Markert said. Treatment includes thymus transplantation.

In summary, Markert said that "keeping immunology in your thoughts can prevent serious medical problems, provide immediate relief to serious problems, and save lives."

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