Manifestaciones no infecciosas del síndrome variable común de inmunodeficiencia. Asociación con los inmunofenotipos de la enfermedad.

Treball Final de Grau en Medicina. Codi: MD1158. Curs acadèmic: 2017/2018Background. Common variable immunodeficiency includes a heterogeneous group of clinical conditions. In this disease, a variable degree of B cell dysfunction and alterations of cellular immunity cause severe infection s. Beyond infections, these patients develop several non - infectious manifestations that frequently determine their clinical course. We aimed to analyze immunophenotypic markers of non - infectious manifestations in common variable immunodeficiency. Methods. We reviewed clinical histories of 40 patients fulfilling criteria of common variable immunodeficiency. The frequency of non - infectious manifestations was analyzed after grouping the patients according to immunophenotypic characteristics. Results. Granulom a ( p =0.021) and autoimmune thrombocytopenia ( p =0.028) were associated to Paris Class MB0 (42.9% and 57.1% respectively). When grouping by Freiburg criteria, both splenomegaly ( p =0.002) and thrombocytopenia ( p =0.02) showed significant differences, with grea ter prevalence in group Ia (77.8 and 55.6% respectively). EuroClass classification also produced significant differences in adenopathy ( p =0,025), splenomegaly (p=0.001) and thrombocytopenia (p<0.001), with a greater incidence in the group SmB - CD21low (66.7 %, 88.9% and 88.9%). When considering the levels of naïve CD4 T cells (CD45RA+), significant differences were found in the frequency of adenopathy ( p =0.01), splenomegaly ( p =0.014), thrombocytopenia ( p =0.014) and interstitial lung disease ( p =0.011), with a higher freq uency in patients showing lower levels (88.9%, 66.7%, 66.7% and 50% respectively). Conclusion. In CVID, immunophenotipic grouping of patients is a useful tool to predict the probability of non - infectious manifestations. Level of naïve CD4 T cell s is an important prognostic factor in CVID.4 RESUMEN Antecedentes. El síndrome variable común de inmunodeficiencia incluye un grupo muy heterogéneo de manifestaciones. Se caracteriza por presentar diversas alteraciones en las células B y en l a inmunidad celular, que producen infecciones graves. Junto con la inmunodeficiencia aparecen importantes manifestaciones no infecciosas, que pueden condicionar el pronóstico. Nuestro objetivo es estudiar estas manifestaciones buscando asociaciones con los distintos inmunofenotipos de la enfermedad. Métodos. Se analizaron las historias clínicas de 40 pacientes con criterios de síndrome variable común de inmunodeficiencia. Se agrupó a los pacientes según las clasificaciones inmunofenotípicas propuestas y se realizó un análisis de asociación con las manifestaciones no infecciosas. Resultados. La clasificación de Paris mostró diferencias entre inmunofenotipos para granulomas ( p= 0.021) y trombocitopenia ( p =0.028), con mayor frecuencia en el grupo MB0 (42.9% y 57.1%). La agrupación según Freiburg mostró diferencias significativas para esplenomegalia ( p =0.002) y trombocitopenia ( p =0.02), con mayor proporción en Ia (77 .8% y 55. 6%). EuroClass mostró diferencias en adenopatías ( p =0.025), esplenomegalia ( p =0.001) y trombocitopenia ( p <0.001) con mayor incidencia en SmB - CD21low (66.7%, 88.9% y 88.9%). La agrupación según niveles de células T CD4 vírgenes (CD45RA+) mostró diferencias en adenopatías ( p =0.01), esplenomegalia ( p =0.014), trombocitopenia ( p =0.014) y enfermed ad pulmonar intersticial ( p =0.011), más frecuentes en el grupo I (88.9%, 66.7%, 66.7% y 50% respectivamente) Conclusión. La clasificación inmunofenotípica proporciona información muy valiosa para predecir la aparición de manifestaciones no infecciosas. La determinación de células T CD4 vírgenes es un factor con gran rentabilidad pronóstic

Characteristics of 698 patients with dissociative seizures: a UK multicenter study

Objective We aimed to characterize the demographics of adults with dissociative (nonepileptic) seizures, placing emphasis on distribution of age at onset, male:female ratio, levels of deprivation, and dissociative seizure semiology. Methods We collected demographic and clinical data from 698 adults with dissociative seizures recruited to the screening phase of the CODES (Cognitive Behavioural Therapy vs Standardised Medical Care for Adults With Dissociative Non‐Epileptic Seizures) trial from 27 neurology/specialist epilepsy clinics in the UK. We described the cohort in terms of age, age at onset of dissociative seizures, duration of seizure disorder, level of socioeconomic deprivation, and other social and clinical demographic characteristics and their associations. Results In what is, to date, the largest study of adults with dissociative seizures, the overall modal age at dissociative seizure onset was 19 years; median age at onset was 28 years. Although 74% of the sample was female, importantly the male:female ratio varied with age at onset, with 77% of female but only 59% of male participants developing dissociative seizures by the age of 40 years. The frequency of self‐reported previous epilepsy was 27%; nearly half of these epilepsy diagnoses were retrospectively considered erroneous by clinicians. Patients with predominantly hyperkinetic dissociative seizures had a shorter disorder duration prior to diagnosis in this study than patients with hypokinetic seizures (P < .001); dissociative seizure type was not associated with gender. Predominantly hyperkinetic seizures were most commonly seen in patients with symptom onset in their late teens. Thirty percent of the sample reported taking antiepileptic drugs; this was more common in men. More than 50% of the sample lived in areas characterized by the highest levels of deprivation, and more than two‐thirds were unemployed. Significance Females with dissociative seizures were more common at all ages, whereas the proportion of males increased with age at onset. This disorder was associated with socioeconomic deprivation. Those with hypokinetic dissociative seizures may be at risk for delayed diagnosis and treatment