Which physical findings are characteristic of severe combined immunodeficiency (SCID)?

Updated: May 27, 2020
  • Author: Francisco J Hernandez-Ilizaliturri, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

The physical examination may identify nonspecific signs of acute or chronic infections and those more specifically related to certain disease entities. Consider the following:

  • Growth and development may be delayed as a result of recurrent infections. Dysmorphic syndromes such as short-limbed dwarfism may occur. Hair abnormalities are observed in persons with CHH.

  • Lymphoid tissue and organs such as the tonsils, adenoids, and peripheral lymph nodes are underdeveloped in persons with XLA and those with various forms of SCID. Diffuse lymphadenopathy is observed in persons with CVID, XHM, and Omenn syndrome.

  • Permanent cutaneous scars follow skin infections. A desquamating erythematous rash is observed in persons with Omenn syndrome.

  • After recurrent episodes of otitis media, evidence of past perforations, scarring, and dull tympanic membranes are observed. Purulent nasal discharge, a cobblestone pattern of the pharyngeal mucosa, and postnasal exudate may be evident. Note the presence or absence of tonsillar tissue.

  • Evaluate for signs such as a loud pulmonic heart sound, right ventricular heave, and tricuspid regurgitation murmur. If present, these signs support the diagnosis of pulmonary hypertension. Jugular venous distention, tender hepatomegaly, and lower-extremity edema suggest cor pulmonale. Pulmonary rales, rhonchi, wheezing, and digital clubbing may be encountered.

  • Paralytic poliomyelitis may follow vaccination in patients with antibody deficiency.

  • Deep sensory loss with decreased vibratory sense and position of limb segments are observed in persons with pernicious anemia.


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