Browsing by Author "Taulaigo, AV"
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- Fatal CTLA-4 Heterozygosity With Autoimmunity and Recurrent Infections: a De Novo MutationPublication . Moraes-Fontes, MF; Hsu, AP; Caramalho, I; Martins, C; Araújo, AC; Lourenço, F; Taulaigo, AV; Lladó, A; Holland, SM; Uzel, GPrimary immunodeficiency disorders are rarely diagnosed in adults but must be considered in the differential diagnosis of combined recurrent infections and autoimmune disease. We describe a patient with CTLA-4 haploinsufficiency and an abnormal regulatory T-cell phenotype. Unusually, infections were more severe than autoimmunity, illustrating therapeutic challenges in disease course.
- Heterogeneous lupus-specific lesions and treatment outcome, in a single patient, over a period of timePublication . Fernandes, M; Taulaigo, AV; Vidal, C; Agostini, P; Riso, N; Moraes-Fontes, MFThe report highlights the importance of strict clinico-histological correlations when skin biopsies are performed in diagnostic doubt in systemic lupus erythematosus. Furthermore, PUVA is never indicated in autoimmune conditions involving photosensitivity, due to high potential for internal and cutaneous aggravation of the disease, as the authors observed in this case.
- Mandibular Resorption and Vocal Cord Paralysis: a Catastrophic Form of Systemic SclerosisPublication . Mendonça, P; Taulaigo, AV; Caetano, A; Moraes-Fontes, MFSudden respiratory distress in association with severe weight loss are unusual features of systemic sclerosis (SSc). We report the case of a 56-year-old Caucasian woman with a 9-year history of a diffuse form of SSc who presented with acute stridor due to vocal cord paralysis and required an emergency tracheostomy. She had sought medical attention only after 4 years of disease onset, presenting with a mask-like face, diffuse skin thickening, acro-osteolysis and severe interstitial lung disease. Even though skin tightness improved after immunosuppressive treatment, several spontaneous facial fractures and episodes of dysphagia and choking occurred in the years that followed. At the time of stridor, she was severely malnourished and a percutaneous endoscopic gastrostomy was required for feeding. Permanent vocal cord damage in combination with severe loco-regional bone resorption resulted in severe disability and impaired nutrition. We hereby highlight the features of SSc for which therapy remains challenging.