49
Primary Immunodeficiencies
• The genetic basis has been determined for >150 primary immunodeficiencies.
• Many immunodeficiency syndromes present with dermatologic findings that can facilitate early diagnosis (Table 49.1; Figs. 49.1–49.8); these features may be divided into three categories:
Table 49.1
Cutaneous findings in primary immunodeficiency (ID) disorders.
Infectious conditions are in darker blue shading and non-infectious conditions in lighter blue shading.
Fig. 49.1 Ataxia–telangiectasia. A Characteristic linear telangiectasias on the bulbar conjunctivae. B Extensive telangiectasias on the neck of a young woman. C Persistent granulomatous plaques on the leg of a child. These lesions often ulcerate and are difficult to manage. A, Courtesy, Jean L. Bolognia, MD; B, C, Courtesy, Amy Paller, MD.
Fig. 49.2 Chronic granulomatous disease. Lupus erythematosus-like annular plaques on the neck. Courtesy, Edward Cowen, MD.
Fig. 49.3 Chronic mucocutaneous candidiasis (CMC). Non-syndromic CMC presenting as (A) extensive, recalcitrant thrush on the tongue of a 5-year-old child; (B) marked onychodystrophy with significant paronychial swelling and erythema. C Non-syndromic CMC presenting as crusted granulomatous plaques on the palm. D Recurrent cutaneous candidiasis in an infant with DiGeorge syndrome. Note the erythema, pustules, and scale-crust near the site of an intravenous line on the arm. A, B, Courtesy, Amy Paller, MD. D, Courtesy, Julie V. Schaffer, MD.
Fig. 49.4 Classic hyperimmunoglobulin E syndrome. Several mildly erythematous, slightly purulent ‘cold’ abscesses on the forehead and scalp of an infant. Courtesy, Amy Paller, MD.
Fig. 49.5 Autosomal recessive hyperimmunoglobulin E syndrome due to DOCK8
