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    ABSTRACT: 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.
    Journal of Clinical Immunology 04/2012; 32(5):907-21. · 3.38 Impact Factor
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    ABSTRACT: Patiënten met primaire hypogammaglobulinemie worden gekenmerkt door recidiverende (bacteriële) infecties van de luchtwegen en het maag-darmkanaal. Substitutietherapie met intraveneus immunoglobuline heeft geresulteerd in een afname van frequentie en ernst van infecties. Intraveneuze immunoglobulinetherapie werd tot voor kort alleen in het ziekenhuis toegediend, hetgeen betekende dat de patiënt ten minste één dagdeel of zelfs een hele schooldag per twee tot vier weken kwijt was aan ziekenhuisbezoek. Tegenwoordig worden steeds meer patiënten thuis behandeld met intraveneuze immunoglobulineproducten. Voor de thuisbehandeling zijn drie aspecten van belang: de veiligheid van de patiënt, de verantwoordelijkheden van de betrokkenen en de vergoeding van de verzekeraar. Patients with primary hypogammaglobulinemia are characterised by recurrent (bacterial) infections of the respiratory tract and gastro-intestinal tract. Substitution therapy with intravenous immunoglobulin products has resulted in a decrease of the frequency and severity of infections. Usually intravenous immunoglobulin therapy is administered in the hospital. This means that the patient will be absent from school at least a daily period or one day every two to four weeks. Nowadays it is possible to treat these patients at home. Three aspects regarding home treatment are important: the safety of the patients, the responsibilities of all participating persons and reimbursement of the insurance company.
    Tijdschrift voor kindergeneeskunde 70(6):36-39.
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    ABSTRACT: In de laatste decaden is zeer grote vooruitgang geboekt in de herkenning en mogelijkheden van behandeling van primaire immuundeficiënties. De grootste vooruitgang is echter geboekt op het gebied van het ontrafelen van de genetische basis en de moleculaire pathofysiologie van veel primaire immuundeficiënties. Aan de hand van de twee ernstigste vormen van antistofdeficiënties, de aangeboren agammaglobulinemie en de ‘common variable immunodeficiency disease’ (cvid) wordt ingegaan op klinische manifestaties en huidige behandeling van deze aandoeningen. De moleculair-genetische oorzaak van agammaglobulinemie is bij veel van de patiënten bekend. De genetische basis van de heterogene groep van cvid is complex en nog onbekend. Het ontrafelen van het basismechanisme van cvid is de grote uitdaging van de komende decade en moet inzicht mogelijk maken in het wisselende ziektebeloop en prognose, waardoor betere counseling van patiënt en familie mogelijk wordt. Within the last decades, major advances have been achieved in recognition and treatment of primary immunodeficiency disease. The greatest achievement however, is the identification of the genetic basis and molecular mechanisms of many of the primary immunodeficiency disorders. The clinical manifestations and treatment of the two most severe antibody deficiency disorders, agammaglobulinemia and common variable immunodeficiency disease (cvid), are discussed. The genetic cause of agammaglobulinemia is elucidated in the majority of cases. However, cvid is still a heterogeneous group of immunodeficiency diseases under complex genetic controls. Understanding the mechanisms is a major challenge for the coming decade and would allow insight in the disease and prognosis and counseling of patients and family.
    Tijdschrift voor kindergeneeskunde 02/2002; 70(6):40-46.