When to Suspect Immunodeficiency

Jim Treat, MD, Professor of Clinical Pediatrics and Dermatology, Perelman School of Medicine, Associate Chair for IT for the department of Pediatrics, Fellowship Director, Pediatric Dermatology, Education Director, Pediatric Dermatology, Children’s Hospital of Philadelphia

December 2022

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Dr. Treat presented three types of clinical scenarios suggesting immunodeficiency: primary skin findings of infections that are unusual, opportunistic, or exuberant; secondary skin findings of eczematous or granulomatous changes; and immunosuppressed groups (e.g., patients with extreme prematurity, primary genetic immunodeficiencies, or iatrogenic immunodeficiencies due to medications, transplantations, or nutrition).

Dr. Treat showed pediatric cases of suggested immunodeficiency in patients with severe dermatitis, Candida infections, warts, invasive mold infections, and kwashiorkor. Many of these cases have secondary skin findings (e.g., differential diagnosis of severe eczematous change in infancy). These include patients with atopic dermatitis with infections, irritant or allergic contact dermatitis, ichthyosis, nutritional deficiencies, and immunodeficiencies. For example, a pediatric patient presented with an unusual infection and was suspected to be severely immune deficient. However, the patient was secondarily immune deficient owing to a secondary event of not eating enough food, and therefore, not getting enough immune antibodies.

Dr. Treat’s pearls included the importance of being aware of the many different ways a patient can be immunosuppressed, fungal infections and yeast infections can present in many different ways, and urgent diagnosis and therapy are key to survival in patients with infections who are immunocompromised or immunosuppressed.

Therefore, a general dermatologist’s main role is to look at common things acting exuberantly or for uncommon infections. The dermatologist should perform a work-up for primary immune deficiencies. Dr. Treat said it is also important to recognize that some unusual findings may go undetected, including severe eczematous or granulomatous changes. Referring patients with these types of findings to appropriate specialists can be life-saving.