Case Report
Common variable immunodeficiency syndrome in an adult
CNRI/Science Photo Library
Laura S Lourdes, Karen C Daily
Lancet 2014; 383: 926 Department of Medicine (L S Lourdes MD), and Department of Medicine, Division of Hematology and Oncology (K C Daily DO), University of Florida, Gainesville, FL, USA Correspondence to: Dr Laura S Lourdes, 1600 SW Archer Rd, PO Box 100277, Gainesville, FL 32610, USA [email protected]fl.edu See Online for appendix
926
In September, 2012, a 25-year-old woman came to our emergency department with a 3 week history of diarrhoea, generalised cramping abdominal pain, and low-grade fevers associated with an unintentional 9 kg weight loss. She had a history of immune thrombocytopenic purpura not needing treatment. On examination, the patient had a fever of 38·2°C and palpable axillary lymphadenopathy. CT of the chest, abdomen, and pelvis showed pulmonary nodules with patchy infiltrates bilaterally, axillary and retroperitoneal lymphadenopathy (appendix), and splenomegaly (15·3 cm). Laboratory studies showed raised white blood cell count of 1·3 × 10⁹/L (neutrophils 0·104 × 10⁹/L), and platelets 104 × 10⁹/L. Lymphoma was suspected, and the patient was admitted. Cefepime was started empirically for febrile neutropenia. Blood, urine, sputum, and stool cultures were all negative. HIV antibody and PCR tests were non-reactive. Monospot test and tests for Epstein-Barr virus and cytomegalovirus were negative for acute infection. Bronchoscopy was done because of CT findings. Bronchoalveolar lavage was positive for herpes simplex type one, for which the patient was treated with valacyclovir. Diarrhoea resolved within 1 week of admission, abdominal pain at 2 weeks, and fever by 3 weeks, at which point the patient was discharged. Excisional biopsy of an axillary lymph node showed atypical follicular lymphoid hyperplasia without evidence of lymphoma. In-situ hybridisation study for Epstein-Barr virus showed rare positive cells. Focally increased numbers of Langerhans cells were seen without granulomata. The CD4/CD8 T-cell ratio was decreased (0·65 [normal range 1–4]); however, no T-cell immunophenotypic aberrancy was detected. Serum immunoglobulin concentrations showed low IgG (3·49 g/L), low IgA (
Common variable immunodeficiency syndrome in an adult
CNRI/Science Photo Library
Laura S Lourdes, Karen C Daily
Lancet 2014; 383: 926 Department of Medicine (L S Lourdes MD), and Department of Medicine, Division of Hematology and Oncology (K C Daily DO), University of Florida, Gainesville, FL, USA Correspondence to: Dr Laura S Lourdes, 1600 SW Archer Rd, PO Box 100277, Gainesville, FL 32610, USA [email protected]fl.edu See Online for appendix
926
In September, 2012, a 25-year-old woman came to our emergency department with a 3 week history of diarrhoea, generalised cramping abdominal pain, and low-grade fevers associated with an unintentional 9 kg weight loss. She had a history of immune thrombocytopenic purpura not needing treatment. On examination, the patient had a fever of 38·2°C and palpable axillary lymphadenopathy. CT of the chest, abdomen, and pelvis showed pulmonary nodules with patchy infiltrates bilaterally, axillary and retroperitoneal lymphadenopathy (appendix), and splenomegaly (15·3 cm). Laboratory studies showed raised white blood cell count of 1·3 × 10⁹/L (neutrophils 0·104 × 10⁹/L), and platelets 104 × 10⁹/L. Lymphoma was suspected, and the patient was admitted. Cefepime was started empirically for febrile neutropenia. Blood, urine, sputum, and stool cultures were all negative. HIV antibody and PCR tests were non-reactive. Monospot test and tests for Epstein-Barr virus and cytomegalovirus were negative for acute infection. Bronchoscopy was done because of CT findings. Bronchoalveolar lavage was positive for herpes simplex type one, for which the patient was treated with valacyclovir. Diarrhoea resolved within 1 week of admission, abdominal pain at 2 weeks, and fever by 3 weeks, at which point the patient was discharged. Excisional biopsy of an axillary lymph node showed atypical follicular lymphoid hyperplasia without evidence of lymphoma. In-situ hybridisation study for Epstein-Barr virus showed rare positive cells. Focally increased numbers of Langerhans cells were seen without granulomata. The CD4/CD8 T-cell ratio was decreased (0·65 [normal range 1–4]); however, no T-cell immunophenotypic aberrancy was detected. Serum immunoglobulin concentrations showed low IgG (3·49 g/L), low IgA (
