M Pilar Llobet

University Hospital Vall d'Hebron, Barcino, Catalonia, Spain

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Publications (3)5.83 Total impact

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    ABSTRACT: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It can present at any age in patients with a history of recurrent bacterial infections, with or without a family history of other primary immunodeficiencies (PID), and shows a wide range of clinical manifestations and immunological data. Diagnosis is based on low IgG, IgM and/or IgA levels. Delayed diagnosis and therapy can lead to bronchiectasis and malabsorption. The aim of this study was to describe a paediatric population diagnosed of CVID and its evolution in the population. Memory B-cell (MB) classification carried out in these patients was correlated with clinical manifestations and outcome. Clinical and immunological data of 22 CVID children under 18 yr treated at our centre between 1985 and 2005 are presented. Immunological studies included those for diagnosis and MB quantification. Differences in form of presentation, familial incidence and MB classification were reviewed. A statistical descriptive analysis was made. Infections were the commonest manifestation, affecting mainly respiratory (19/22) and gastrointestinal (10/22) tracts. Bronchiectasis was present in seven cases, and detected prior to CVID diagnosis in five. Replacement therapy led to a significant reduction in the number of infections. Severe complications appeared mostly in patients without MB. Patients of the same family share the same MB group. Family members had also been diagnosed of CVID in seven cases. Early diagnosis and therapy are essential to improve outcome in these patients. MB studies are useful in children to orient prognosis and further genetic studies.
    Pediatric Allergy and Immunology 10/2008; 20(2):113-8. · 3.38 Impact Factor
  • M.P. Llobet, J.M. Bertrán, T. Español
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    ABSTRACT: Common variable immunodeficiency (CVID) is one of the more frequent primary immunodeficiencies (PID), after IgA deficiency, and affects a heterogeneous group of patients of various ages and with autosomal recessive inheritance Our objective is to present the group of children diagnosed with CVID treated in our Hospital Infantil Vall d’Hebron and comment on the diagnostic problems that can arise Sixteen boys and girls were diagnosed between the ages of 7 months and 15 years. The diagnosis is based on low immunoglobulins and a clinical picture of infection Differential diagnosis in the paediatric age must consider mainly other PIDs: transient hypogammaglobulinaemia of infancy, X chromosome-linked agammaglobulinaemia (XLA), X chromosome-linked hyper IgM syndrome (X-HIM), IgG subclass deficiency and IgA deficiency (IgAD). Other processes that evolve with recurrent respiratory infections, such as cystic fibrosis, must also be discarded Conclusions These patients present a high incidence of respiratory infections and bronchiectasias. We also observe associated allergic and autoimmune processes. Early diagnosis is indispensable to initiate suitable treatment and avoid the consequences of both respiratory and digestive infections
    Allergologia et Immunopathologia 30(1):42–46. · 1.23 Impact Factor
  • M P Llobet, J M Bertrán, T Español
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    ABSTRACT: Common variable immunodeficiency (CVID) is one of the more frequent primary immunodeficiencies (PID), after IgA deficiency, and affects a heterogeneous group of patients of various ages and with autosomal recessive inheritance. Our objective is to present the group of children diagnosed with CVID treated in our Hospital Infantil Vall d'Hebron and comment on the diagnostic problems that can arise. Sixteen boys and girls were diagnosed between the ages of 7 months and 15 years. The diagnosis is based on low immunoglobulins and a clinical picture of infection. Differential diagnosis in the paediatric age must consider mainly other PIDs: transient hypogammaglobulinaemia of infancy, X chromosome-linked agammaglobulinaemia (XLA), X chromosome-linked hyper IgM syndrome (X-HIM), IgG subclass deficiency and IgA deficiency (IgAD). Other processes that evolve with recurrent respiratory infections, such as cystic fibrosis, must also be discarded. CONCLUSIONS: These patients present a high incidence of respiratory infections and bronchiectasias. We also observe associated allergic and autoimmune processes. Early diagnosis is indispensable to initiate suitable treatment and avoid the consequences of both respiratory and digestive infections.
    Allergologia et Immunopathologia 30(1):42-6. · 1.23 Impact Factor