Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry.

Common variable immunodeficiency (CVID) constitutes a heterogenic group of primary immunodeficiency disorders with a wide-ranging clinical spectrum. CVID-associated non-infectious morbidity constitutes a major challenge requiring a full understanding of its pathophysiology and its clinical importance and global variability, especially considering the broad clinical, genetic, and regional heterogeneity of CVID disorders. This work aimed to develop a nationwide, multicenter, retrospective study over a 3-year period describing epidemiological, clinical, laboratory, therapeutic, and prognostic features of 250 CVID patients in Spain. The mean diagnostic delay was around 10 years and most patients initially presented with infectious complications followed by non-infectious immune disorders. However, infectious diseases were not the main cause of morbimortality. Non-infectious lung disease was extraordinarily frequent in our registry affecting approximately 60% of the patients. More than one-third of the patients in our cohort showed lymphadenopathies and splenomegaly in their follow-up, and more than 33% presented immune cytopenias, especially Evans' syndrome. Gastrointestinal disease was observed in more than 40% of the patients. Among biopsied organs in our cohort, benign lymphoproliferation was the principal histopathological alteration. Reaching 15.26%, the global prevalence of cancer in our registry was one of the highest reported to date, with non-Hodgkin B lymphoma being the most frequent. These data emphasize the importance of basic and translational research delving into the pathophysiological pathways involved in immune dysregulation and diffuse lymphocytic infiltration. This would reveal new tailored strategies to reduce immune complications, and the associated healthcare burden, and ensure a better quality of life for CVID patients.

Primary hyperaldosteronism associated with vitiligo vulgaris and autoimmune hypothyroidism.

Type 3 polyendocrine autoimmune syndrome (PAS) is defined as the association between an autoimmune thyroid disease and 1 or more other autoimmune diseases, except for autoimmune Addison disease or hypoparathyroidism. Here we report an extremely rare case of type 3 PAS in which vitiligo vulgaris and symptomless autoimmune hypothyroidism were observed during the study of primary hyperaldosteronism.

Skin metastases as first manifestation of lung cancer.

Skin metastases as manifestation of internal neoplasias constitute a 0.8% of their initial presentation and generally imply an advanced stage of the disease and a short survival. The lung cancer metastasises to the skin in 2.8-24% of the cases, generally in advanced stages of the disease, although in 7-19%, skin metastases appear as first manifestation thereof. Sometimes, the study of the extent in the patients reveals that there are no metastases at other levels. We hereby present the case of a male diagnosed with a lung cancer whose first manifestation was the appearance of skin metastases.

Recurrent pericardial effusion as initial manifestation of primary diffuse pericardial malignant mesothelioma.

The case of a 61-year-old woman who presented a recurrent symptomatic pericardial effusion and a malignant cardiac tamponade six months prior to the detection of a mediastinal anterior mass is described. Diffuse malignant pericardial mesothelioma was diagnosed after mediastinal mass biopsy. The patient underwent further oncological evaluation followed by chemotherapy.