Immunodeficiency Disorders
Khoa D. Tran
Frank E. Lucente
Immunodeficiency disorders routinely present as recurrent infections in the head and neck. Otolaryngologists need to know how to recognize patients with these disorders and manage their infection efficiently. This chapter reviews the otolaryngologic manifestations and the management approach of both primary and secondary immunodeficiency disorders, with special focus on acquired immunodeficiency syndrome (AIDS).
PATIENT EVALUATION
A thorough history is of paramount importance in evaluating immunodeficiency disorders in the head and neck. The type and location of the disease are often dictated by the type of immunodeficiency. Recurrent bacterial infection often relates to a defect of either neutrophil function or the humoral immune system. Recurrent viral or fungal infections, or a history of severe reactions to live viral vaccines typically suggest T-cell disorders. A detailed history of growth and development, the age of onset, and a history of current use of cytotoxic agents and steroids should be obtained. A family history of first-degree relatives is useful in identifying inherited forms of immunodeficiency disorders. The physical examination includes a complete head and neck examination with attention to the presence of lymphoid tissue, patient’s weight, and spleen evaluation.
Once the history and physical examination are complete, the type of immunodeficiency should be hypothesized and confirmed by laboratory testing. The cell-mediated immune system can be assessed by total lymphocyte count and delayed hypersensitivity skin testing. B-cell dysfunction can be evaluated with electrophoresis and quantitation of immunoglobulins. Neutrophil function can be assessed with chemotaxis testing and microbicidal assays. Complement deficiencies can be detected with total serum hemolytic complement (CH50) test. Abnormal results may necessitate further specific tests to characterize the nature of the immunodeficiency.
IMMUNODEFICIENCY DISORDERS
The immunodeficiency disorders can be classified as primary or secondary. Primary immunodeficiencies have no extrinsic etiology and are usually genetically determined. These are categorized as T-cell, B-cell, or combined deficiencies (Table 40-1). Secondary immunodeficiency disorders typically result from systemic conditions such as cytotoxicity due to medications, or acquired immunodeficiency syndrome associated with HIV infection.
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PRIMARY IMMUNODEFICIENCY
X-Linked Infantile Hypogammaglobulinemia
This immunodeficiency disorder is secondary to the absence or marked deficiency of all five immunoglobulin classes. The disease manifests in male patients at approximately 5 to 6 months of age with recurrent bacterial otitis media, meningitis, dermatitis, pneumonia, bronchitis, and occasional arthritis or malabsorption. Opportunistic infections commonly occur with Streptococcus pneumonae, Haemophilus Influenzae, or gram-negative organisms; and typically fail to respond completely to antibiotic therapy. Patients with this disease have normal response to viral infection due to intact cell-mediated immunity. Intravenous gammaglobulin is the mainstay of treatment for this disease entity.
Common Variable Immunodeficiency (Acquired Hypogammaglobulinemia)
This disease is due to hypogammaglobulinemia with characteristically higher incidence of T-cell abnormalities and higher IgG levels compared to the X-linked infantile hypogammaglobulinemia. The cell-mediated immunity is commonly intact. Affected patients include both males and females, and are typically asymptomatic until 15 to 35 years of age. The clinical manifestations are similar to those of the X-linked infantile hypogammaglobulinemia. The disease typically presents with severe chronic or recurrent sinopulmonary infections caused by Streptococcus pneumonae, Haemophilus Influenzae, or other pyogenic organisms. Intravenous gammaglobulin is the mainstay of treatment. Corticosteroids and other immunosuppressive agents are contraindicated.
Selective IgA Deficiency
This common disease entity is secondary to a decreased serum IgA level of typically less than 5mg/dL. The IgA deficiency reduces the antigen sequestration ability, leading to the enhanced susceptibility to infections, with higher levels of IgEantigen combination and allergic responses. Affected patients also have high incidence of systemic lupus erythematosus, rheumatoid arthritis, dermatomyositis, celiac disease, ulcerative colitis, pernicious anemia, thyroiditis and Sjogren’s syndrome. Recurrent sinopulmonary infections are frequent, and are treated aggressively with broad-spectrum antibiotics. Gamma immunoglobulin therapy is contraindicated due to the normal serum levels of other immunoglobulin classes and possible immunologic reaction to the foreign IgA.
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