Case DiscussionGranulomatous disease: Distinguishing primary antibody disease from sarcoidosis
Introduction
Common variable immunodeficiency disorders (CVIDs) are the commonest form of symptomatic primary immunodeficiency. We describe four patients who were initially misdiagnosed with sarcoidosis but later found to have CVIDs. Failure to diagnose CVIDs may have serious consequences, as antibody failure may result in recurrent bacterial infections and life-threatening pneumonia with associated bronchiectasis. In addition, conventional immunosuppressive treatment for sarcoidosis may be detrimental in this setting.
The purpose of highlighting this dilemma is to examine the differences in clinical features associated with each disease and to consider how management differs once the diagnosis of antibody deficiency is reached.
Section snippets
Case 1
A 43 year-old male non-smoker presented with a non-productive cough. Examination revealed cervical lymphadenopathy and parotid enlargement. Chest X-ray (CXR) was normal and lymph node biopsy demonstrated non-caseating granulomata; a diagnosis of sarcoidosis was made. Steroid therapy was not indicated.
Sixteen years later, the patient required three courses of antibiotics for recurrent pneumonia within one year. He had a previous history of recurrent sinusitis and herpes infections occurring
Comments from Dr Dilani Arnold, Dr Siraj Misbah and Dr Helen Chapel
We describe four patients who were initially diagnosed with sarcoidosis and managed accordingly, but who were subsequently found to have CVIDs between 3 and 16 years later.
Common variable immunodeficiency disorders (CVIDs) comprise a heterogeneous group of disorders characterized by primary antibody production failure, low serum immunoglobulin levels and susceptibility to recurrent infections [1]. CVIDs account for about 90% of symptomatic antibody deficiencies and may present at any age [2].
Comments from Dr. John Wiggins
Several granulomatous diseases present to chest physicians in a range of guises. By far the commonest in the UK are tuberculosis and sarcoidosis. These diseases are often thought to be easy to distinguish since sarcoidosis includes the well-characterized clinical features of hilar lymphadenopathy, erythema nodosum and uveitis. Looking at these four cases, it is understandable why the initial diagnosis was sarcoidosis, especially as CVIDs are relatively uncommon in respiratory practice and
Comments from Dr Charlotte Cunningham-Rundles
Arnold et al report a group of four patients who had pulmonary and/or lymph node granulomata, and were diagnosed as having sarcoidosis, delaying the discovery of underlying immune deficiency for years. In each case, there were significant clinical indicators indicative of immune deficiency, including significant and recurrent bacterial infections, lack of an expected antibody response, immune thrombocytopenia and a case of chicken pox as an adult. Granulomata in CVIDs occur in lungs, lymph
D.F. Arnold, BSc(Hons), MRCP
Department of Clinical Immunology, John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK
J. Wiggins, FRCP
Department of Chest Medicine, Wexham Park Hospital, Slough SL2 4HL, UK
C. Cunningham-Rundles, MD PhD
Department of Immunobiology, Mount Sinai School of Medicine, 1425 Madison Avenue, New York City, 10029, USA
S.A. Misbah, FRCP, FRCPath
Department of Clinical Immunology, John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK
H.M. Chapel, FRCP, FRCPath
Department of Clinical Immunology, John Radcliffe Hospital, Headley Way, Oxford OX3 9DU, UK
Acknowledgments
The authors wish to thank Prof K Gatter, Head of Department and Professor of Pathology, Nuffield Department of Clinical Science Laboratory, John Radcliffe Hospital, Headington, Oxford, for his assistance.
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