Browsing by Author "Cordeiro, AI"
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- Acute Otitis Media a Reliable Warning Sign for Primary Immunodeficiencies?- A Critical AppraisalPublication . Furtado, F; Cordeiro, AI; Farela Neves, J; Neves, CAcute otitis media (AOM) is the most common infection in childhood, resulting from both anatomic and immunologic specificities of this age group. Recurrent AOM has been defined as one of the warning signs for primary immunodeficiencies (PID), In this study we evaluated the strength of recurrent AOM as clinical predictor of PID. Methods: Retrospective study (August 2010 - December 2013) which included all patients referred to PID appointment because of recurrent AOM (= 8 AOM episodes/year). Syndromic patients or those presenting with another warning sign for PID were excluded. Clinical, demographic and laboratory results were analized and statistical analysis was made using SPSS 20. Results: Seventy-five patients were included (median age 37,8 months; 62,7% male gender), corresponding to 15% of all first appointments. Other comorbidities were present in 20% of the patients and 17% had ORL surgery prior to PID referral. In most patients, the immunologic screening consisted on the evaluation of humoral function, but in selected cases other studies were performed (namely complement and lymphocyte immunophenotyping). A PID was identified in 12 children (16,0%) and the majority of these patients had other distinctive feature (personal or familiar antecedent of infection or auto-immunity, 66,7%, p<0,05). Nine children (12,0%) underwent prophylactic cotrimoxazole. The average length of follow-up was 11,2 months. Conclusion: Despite being a very frequent cause of immunologic screening, in this study recurrent AOM was not found to be a good predictor of underlying PID, unless the patients presents other significant personal or family history.
- Atypical presentation of erythema multiformePublication . Caseiro Alves, ME; Cordeiro, AI; Carvalho, R; João, A
- Beyond Polycystic Kidney DiseasePublication . Santos, SF; Francisco, T; Cordeiro, AI; Lopes, MJTuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS. We present a 13-year-old girl with bilateral renal cysts detected at the age of 9 months. At the age of 13, she was referred to the Dermatology Outpatients Clinic due to a facial cutaneous eruption. She presented with facial erythema, fibroadenomas with malar distribution and disseminated hypomelanotic macules, meeting the criteria for TS. TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing.
- A Case of Complicated Ascaris InfectionPublication . Moreira, T; Bota, S; Carvalho, MR; Cordeiro, AI; Gouveia, C; Varandas, L
- Case Report: Patient with Deficiency of ADA2 Presenting Leukocytoclastic Vasculitis and Pericarditis during Infliximab TreatmentPublication . Simão Raimundo, D; Cordeiro, AI; Parente Freixo, J; Valente Pinto, M; Neves, C; Farela Neves, J
- Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 SyndromePublication . Padeira, GL; Araújo, C; Cordeiro, AI; Freixo, J; Martins, CG; Neves, JFIn immunocompromised patients, EBV may elicit B-cell transformation and proliferation. A 5-year-old microcephalic boy was admitted with fever and non-malignant polymorphic T-cell lymphoproliferative disease associated with EBV. A presumptive diagnosis of primary immunodeficiency with inability to control EBV was made and next-generation sequencing led to the identification of a novel ZBTB24 mutation (ICF2-syndrome). This case shows that susceptibility to EBV seems to be particular of ICF-2 as it has not been described in the other types of ICF. It is mandatory to raise the hypothesis of an underlying PID in case of severe EBV infection.
- Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 CasesPublication . Costa e Castro, A; Maia, R; Batalha, S; Freixo, JP; Martins, C; Neves, C; Cordeiro, AI; Neves, JFDNA ligase IV deficiency is a rare autosomal recessive disorder associated with impaired DNA repair mechanisms. Most patients with DNA repair defects present with neurologic deficits, combined immunodeficiency, bone marrow failure, and/or hematologic neoplasia. We present 3 unrelated cases of ligase IV deficiency with different clinical presentations. Patient 1 presented at the age of 5 with bone marrow failure, dysmorphic features, and T and B lymphopenia. A compound heterozygous variant L19W/K635fs in the LIG4 gene was identified. Patient 2 presented at the age of 16 with recurrent infections. He had agammaglobulinemia and absent B cells. A homozygous R278H in the LIG4 gene was identified. Patient 3 was referred for vitiligo and B-cell lymphopenia (low class-switched B cells) and hypogammaglobulinemia. Homozygous R278H in LIG4 was also identified. In the last few years, the spectrum of clinical manifestations caused by ligase IV deficiency has widened, making it very difficult to establish an accurate clinical diagnosis. The use of NGS allows a proper diagnosis and provides a better prognosis and adequate family counseling.
- Congenital Nephrotic Syndrome in IL7Rα-SCID: A Rare Feature of Maternofetal Graft-Versus-Host DiseasePublication . Tsilifis, C; Slatter, M; Cordeiro, AI; Hambleton, S; Engelhardt, KR; Griffin, H; Gennery, AR; Neves, JF
- Défice Sintomático Transitório de Zinco: A Propósito de um Caso ClínicoPublication . Milheiro Silva, T; Machado, R; Cordeiro, AIO défice de zinco no lactente pode ocorrer por aumento das necessidades ou diminuição do aporte. A deficiência sintomática transitória de zinco resulta de uma alteração no transportador de zinco a nível da glândula mamária, conduzindo a níveis reduzidos de zinco no leite materno. Lactentes sob aleitamento materno exclusivo apresentam, nestes casos, um défice de aporte. As manifestações clínicas clássicas de défice de zinco traduzem-se por lesões cutâneas acrais e periorificiais, alopecia e diarreia, sendo indistinguíveis de outras causas de défice de zinco. Verifica-se, contudo, uma remissão das manifestações após o início de diversificação alimentar. O diagnóstico precoce e início de suplementação com zinco adquirem um papel fulcral na prevenção de alterações por défice de zinco a longo prazo.
- Ectodermal DysplasiasPublication . João, AL; Antunes, D; Cordeiro, AI; Paiva Lopes, MJEctodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn helps to explain clinical signs, with variability in severity, associated non-ectodermal abnormalities and overlap seen in many patients. We herein review the current state of knowledge regarding this distinct entity and illustrate with an elucidative case report. The need for early multidisciplinary intervention is highlighted, and further studies will focus on genetically-target therapeutic approaches.
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