TY - JOUR
T1 - A case of common variable immunodeficiency presenting with furunculosis
AU - Sidwell, R. U.
AU - Ibrahim, M. A.A.
AU - Bunker, C. B.
N1 - Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.
PY - 2002
Y1 - 2002
N2 - Common variable immunodeficiency (CVID) is the most prevalent of the primary immunodeficiencies, and is characterised by low IgG and IgA, and sometimes IgM. There is some evidence of genetic susceptibility, with 20% of patients having a dominantly inherited disorder with variable expression. It is a heterogeneous disorder with protean manifestations, and as a result diagnosis is often delayed until the second or third decade, with resultant irreversible organ damage, in particular bronchiectasis. Effective treatment is available with regular 3-4-weekly infusions of immunoglobulin. The mechanism of the immunodeficiency has not yet been fully elucidated. The majority of patients present with recurrent sinopulmonary infection, however, this is a multisystem disorder and thus presents to physicians in diverse specialities including dermatology. Other clinical features of the disorder include gastrointestinal problems, granulomatous inflammation, cutaneous features, unusual presentations of enteroviral and mycoplasma infection, an increased incidence of autoimmunity, and a predisposition to lymphoma and stomach cancer. Therefore a knowledge of the disorder and appropriate suspicion by all clinicians of the possibility of such rare problems and a consequent low threshold for performing relevant investigations is imperative in allowing early recognition and instituting effective treatment. We describe a case of CVID identified when the patient developed widespread skin infection, fever and malaise. This case is an important example of a possible presentation of CVID within the dermatology clinic and demonstrates that maintaining a high level of clinical suspicion is essential for the diagnosis of the rare primary immunodeficiencies.
AB - Common variable immunodeficiency (CVID) is the most prevalent of the primary immunodeficiencies, and is characterised by low IgG and IgA, and sometimes IgM. There is some evidence of genetic susceptibility, with 20% of patients having a dominantly inherited disorder with variable expression. It is a heterogeneous disorder with protean manifestations, and as a result diagnosis is often delayed until the second or third decade, with resultant irreversible organ damage, in particular bronchiectasis. Effective treatment is available with regular 3-4-weekly infusions of immunoglobulin. The mechanism of the immunodeficiency has not yet been fully elucidated. The majority of patients present with recurrent sinopulmonary infection, however, this is a multisystem disorder and thus presents to physicians in diverse specialities including dermatology. Other clinical features of the disorder include gastrointestinal problems, granulomatous inflammation, cutaneous features, unusual presentations of enteroviral and mycoplasma infection, an increased incidence of autoimmunity, and a predisposition to lymphoma and stomach cancer. Therefore a knowledge of the disorder and appropriate suspicion by all clinicians of the possibility of such rare problems and a consequent low threshold for performing relevant investigations is imperative in allowing early recognition and instituting effective treatment. We describe a case of CVID identified when the patient developed widespread skin infection, fever and malaise. This case is an important example of a possible presentation of CVID within the dermatology clinic and demonstrates that maintaining a high level of clinical suspicion is essential for the diagnosis of the rare primary immunodeficiencies.
KW - Common variable immunodeficiency
KW - Furunculosis
KW - Immunoglobulins
UR - http://www.scopus.com/inward/record.url?scp=0036378120&partnerID=8YFLogxK
U2 - 10.1046/j.1365-2133.2002.04772.x
DO - 10.1046/j.1365-2133.2002.04772.x
M3 - Article
C2 - 12174114
AN - SCOPUS:0036378120
SN - 0007-0963
VL - 147
SP - 364
EP - 367
JO - British Journal of Dermatology
JF - British Journal of Dermatology
IS - 2
ER -