Common variable immunodeficiency presenting with a large abdominal mass.

WANG J; RODRIGUEZ-DAVALOS M; LEVI G; SAUTER B; GONDOLESI GE; CUNNINGHAM-RUNDLES C

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

MOSBY-ELSEVIER

Año: 2005 vol. 115 p. 1318 - 1320

0091-6749

Common variable immunodeficiency (CVID) is oftenassociated with recurrent sinopulmonary or gastrointestinalinfections.1 A history of recurrent infections usuallyraises the suspicion of CVID; however, associated conditionsof granulomatous infiltration, autoimmunity, ormalabsorption can be clues, leading to earlier diagnosis.The association between CVID and systemic caseatingand noncaseating granulomas is well documented.2 Herewe discuss an unusual presentation of CVID in a youngman with a large abdominal mass.The patient was a 22-year-old autistic AfricanAmerican who presented to a local hospital with weightloss (>20 lbs) and daily fevers.He had multiple episodes of otitis media in childhood, adental abscess, and 2 presumed bacterial pneumonias(at 16 years and 21 years of age) requiring intravenousantibiotics. There was no history of sinusitis. There was nofamily history of immunodeficiency, and his mother hasscleroderma.A large mesenteric mass was demonstrated by means ofcomputed tomography. Exploratory laparotomy localizedit at the root of the mesentery with multiple intestinaladhesions; the mass was initially considered unresectable.A jejunoileal bypass was performed, and he was transferredto Mount Sinai Hospital for possible intestinaltransplantation.A repeat abdominal computed tomographic scan con-firmed a complex, mixed attenuation mesenteric massmeasuring 8 cm 3 5 cm 3 7.5 cm (Fig 1), and multiplehypodense splenic masses. After a trial of intravenousantibiotics and vaccination with pneumococcal polysaccharideand hemophilus influenza type b, the tumor wasresected, and splenectomy was performed. The spleencontained multiple orange lesions with necrotic nodules,which were found on pathology to be necrotizing granulomas.Histologic stains were negative for acid-fast bacilli,fungi, and Nocardia species. There was no evidence ofmalignancy.Postoperatively, the patient experienced recurrent fevers.Biopsy of an enlarged supraclavicular lymph noderevealed necrotizing granulomas. The results of bronchoalveolarlavage were negative for malignant cells, viralinclusions, acid-fast bacilli, fungus, Pneumocystis carinii,and Legionella species.After obtaining consent, HIV DNA PCR and a Kveimtest (for sarcoid) were performed; the results of both werenegative. The fevers continued despite multiple courses ofparenteral antibiotics, and empiric treatment for tuberculosisdid not lead to improvement.The clinical findings of fever, nonspecific granulomas,and the patient?s past medical history raised the possibilityof an immunodeficiency. A lymphocyte screen revealednormal T-cell numbers (total T cells, 1022/mm3 [84%];T helper cells, 475/mm3 [39%]; and T suppressor cells,491/mm3 [41%]) but reduced natural killer cells (25/mm3[2%]; normal value, 135-525/mm3) and B cells (11/mm3[1%]; normal value, 75-375/mm3). Serum concentrationsof IgG, IgA, and IgM could not be measured (IgG,