The Spectrum of Disease Manifestations in Patients with Common Variable Immunodeficiency Disorders and Partial Antibody Deficiency in a University Hospital

被引:32
作者
Maarschalk-Ellerbroek, L. J. [1 ]
Hoepelman, A. I. M. [1 ]
van Montfrans, J. M. [2 ,3 ]
Ellerbroek, P. M. [1 ]
机构
[1] Univ Med Ctr Utrecht, Dept Internal Med & Infect Dis, NL-3508 GA Utrecht, Netherlands
[2] Wilhelmina Childrens Hosp, Univ Med Ctr Utrecht, Dept Paediat Immunol, Utrecht, Netherlands
[3] Wilhelmina Childrens Hosp, Univ Med Ctr Utrecht, Dept Infect Dis, Utrecht, Netherlands
关键词
Common variable immunodeficiency; clinical manifestations; diagnostic delay; pulmonary disease; lymphoproliverative; gastrointestinal disease; autoimmune disease; malignancy; B lymphocyte; T lymphocyte; flow cytometry; DOSE INTRAVENOUS IMMUNOGLOBULIN; IGG SUBCLASS DEFICIENCY; GASTROINTESTINAL MANIFESTATIONS; PRIMARY HYPOGAMMAGLOBULINEMIA; PULMONARY COMPLICATIONS; IMMUNOLOGICAL FEATURES; ABNORMALITIES; INFECTIONS; ADULTS; PREVENTION;
D O I
10.1007/s10875-012-9671-6
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Common variable immunodeficiency disorders (CVIDs) represents a heterogeneous disease spectrum that includes recurrent infections and complications such as autoimmunity, inflammatory organ disease and an increased risk of cancer. A diagnostic delay is common in CVIDs patients. To determine the spectrum of clinical manifestations, immunological characteristics, and the time to diagnosis of 61 adult CVIDs and 18 patients with a partial antibody deficiency (SADNI and IgG subclass deficiency). A retrospective cohort study was performed in patients who met the ESID/PAGID for CVIDs, IgG subclass deficiency and SADNI. Medical records were reviewed to obtain patient demographics, clinical and laboratory data. Infections were the main presentation of all antibody deficient patients and the number of patients with infections declined during IgG therapy. The development of bronchiectasis continued despite IgG therapy, as well as the development of autoinflammatory conditions. Non-infectious disease complications were present in 30% of CVIDs patients at the time of diagnosis and this increased to 51% during follow up despite IgG therapy. The most common complications were autoimmunity or lymphoproliferative disease. The median time to diagnosis was 10 years and in the patients with non-infectious complications the time to diagnosis was considerably longer when compared to the group of patients without complications (17.6 vs. 10.2 years, p = 0.026). In contrast to the partial antibody deficiencies we found a considerable delay in the diagnosis of CVIDs, especially in those patients who were dominated by non-infectious complications, and thus increased awareness would be beneficial. Pulmonary and other complications may continue despite adequate IgG replacement therapy suggesting other causes responsible for these complications.
引用
收藏
页码:907 / 921
页数:15
相关论文
共 64 条
[31]   Alopecia universalis in a patient with common variable immunodeficiency [J].
Kiliç, SS ;
Ersoy, F ;
Sanal, Ö ;
Türkbay, D ;
Tezcan, I .
PEDIATRIC DERMATOLOGY, 1999, 16 (04) :305-307
[32]  
KINLEN LJ, 1985, LANCET, V1, P263
[33]   CD20 deficiency in humans results in impaired T cell-independent antibody responses [J].
Kuijpers, Taco W. ;
Bende, Richard J. ;
Baars, Paul A. ;
Grummels, Annette ;
Derks, Ingrid A. M. ;
Dolman, Koert M. ;
Beaumont, Tim ;
Tedder, Thomas F. ;
van Noesel, Carel J. M. ;
Eldering, Eric ;
van Lier, Rene A. W. .
JOURNAL OF CLINICAL INVESTIGATION, 2010, 120 (01) :214-222
[34]   The outcome of patients with unclassified hypogammaglobulinemia in early childhood [J].
Kutukculer, Necil ;
Gulez, Nesrin .
PEDIATRIC ALLERGY AND IMMUNOLOGY, 2009, 20 (07) :693-698
[35]   Late-Onset Combined Immune Deficiency: A Subset of Common Variable Immunodeficiency with Severe T Cell Defect [J].
Malphettes, Marion ;
Gerard, Laurence ;
Carmagnat, Maryvonnick ;
Mouillot, Gael ;
Vince, Nicolas ;
Boutboul, David ;
Berezne, Alice ;
Nove-Josserand, Raphaele ;
Lemoing, Vincent ;
Tetu, Laurent ;
Viallard, Jean-Francois ;
Bonnotte, Bernard ;
Pavic, Michel ;
Haroche, Julien ;
Larroche, Claire ;
Brouet, Jean-Claude ;
Fermand, Jean-Paul ;
Rabian, Claire ;
Fieschi, Claire ;
Oksenhendler, Eric .
CLINICAL INFECTIOUS DISEASES, 2009, 49 (09) :1329-1338
[36]   Granulomatous disease in common variable immunodeficiency [J].
Mechanic, LJ ;
Dikman, S ;
CunninghamRundles, C .
ANNALS OF INTERNAL MEDICINE, 1997, 127 (08) :613-617
[37]   RADIOLOGIC FINDINGS OF ADULT PRIMARY IMMUNODEFICIENCY DISORDERS - CONTRIBUTION OF CT [J].
OBREGON, RG ;
LYNCH, DA ;
KASKE, T ;
NEWELL, JD ;
KIRKPATRICK, CH .
CHEST, 1994, 106 (02) :490-495
[38]   COMPARISON OF HIGH-DOSE AND LOW-DOSE INTRAVENOUS IMMUNOGLOBULIN THERAPY IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES [J].
OCHS, HD ;
FISCHER, SH ;
WEDGWOOD, RJ ;
WARA, DW ;
COWAN, MJ ;
AMMANN, AJ ;
SAXON, A ;
BUDINGER, MD ;
ALLRED, RU ;
ROUSELL, RH .
AMERICAN JOURNAL OF MEDICINE, 1984, 76 (3A) :78-82
[39]   Infections in 252 patients with common variable immunodeficiency [J].
Oksenhendler, Eric ;
Gerard, Laurence ;
Fieschi, Claire ;
Malphettes, Marion ;
Mouillot, Gael ;
Jaussaud, Roland ;
Viallard, Jean-Francois ;
Gardembas, Martine ;
Galicier, Lionel ;
Schleinitz, Nicolas ;
Suarez, Felipe ;
Soulas-Sprauel, Pauline ;
Hachulla, Eric ;
Jaccard, Arnaud ;
Gardeur, Anaelle ;
Theodorou, Ioannis ;
Rabian, Claire ;
Debre, Patrice .
CLINICAL INFECTIOUS DISEASES, 2008, 46 (10) :1547-1554
[40]   Immunoglobulin prophylaxis in 350 adults with IgG subclass deficiency and recurrent respiratory tract infections:: A long-term follow-up [J].
Olinder-Nielsen, Ann-Margreth ;
Granert, Carl ;
Forsberg, Pia ;
Friman, Vanda ;
Vietorisz, Auli ;
Bjorkander, Janne .
SCANDINAVIAN JOURNAL OF INFECTIOUS DISEASES, 2007, 39 (01) :44-50