Browsing by Author "Freixo, J"
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- 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.
- Hypophosphatemic Rickets: A New MutationPublication . Maio, P; Rocha, S; Mano, L; Francisco, T; Sousa, H; Freixo, J; Abranches, MIntroduction: Phosphopenic rickets is characterized by hypophosphatemia with hyperphosphaturia, normal calcemia and normal or mildly elevated PTH. This pathology may be caused by mutations in PHEX gene (phosphate regulating endopeptidase homolog X-linked). We present a clinical report of a girl with phosphopenic rickets, as consequence of a new mutation of PHEX gene. Clinical Case: We present a 4-year-old female, with unremarkable family history, who presented with failure to thrive since the first year of life (height at the 5th centile, and with the age of four below 5th centile). Blood tests showed hypophosphatemia (2.4 mg/dL), elevated alkaline phosphatase (495 U/L), normal calcemia, mildly elevated PTH (97.2 pg/mL; RR <68.3) and normal levels of 25(OH)D and 1.25(OH)D vitamins. The radiological study showed bone deformity of the radius and femur. Diagnosis of hypophosphatemic rickets was made and she was medicated with phosphorus and calcitriol. Currently, the patient has no clinical or radiographic signs of rickets, osseous age is according to real age and there was a considerable increase in growth rate (between 25th and 50th centiles). Renal ultrasound shows incipient signs of nephrocalcinosis since she was 9-year-old. The genetic study detected a heterozigous mutation of the PHEX gene: variant c.767_768del (p.Thr256Serfs*7). This variant is not described in the literature or databases. However, since it introduces a premature stop codon that can produce a truncated protein, this is very likely a pathogenic variant. The parent’s genetic study is still in progress. Conclusions: Presently more than 200 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. We describe a new mutation of this gene. Knowledge about new mutations can improve patient’s outcome.
- A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous CandidiasisPublication . Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Farela Neves, Jnborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
- A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous CandidiasisPublication . Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Neves, JFInborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.