A5046237034- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Blood disorders and treatments
- Inflammasome and immune disorders
- Parvovirus B19 Infection Studies
- SARS-CoV-2 and COVID-19 Research
- Diabetes and associated disorders
- Autoimmune and Inflammatory Disorders Research
- Platelet Disorders and Treatments
- NF-κB Signaling Pathways
- Pediatric health and respiratory diseases
- Blood groups and transfusion
- Kawasaki Disease and Coronary Complications
- Legionella and Acanthamoeba research
- interferon and immune responses
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Fungal Infections and Studies
- Chronic Lymphocytic Leukemia Research
- Inflammatory Bowel Disease
- Bacterial Infections and Vaccines
- Infectious Diseases and Tuberculosis
- Respiratory viral infections research
- T-cell and B-cell Immunology
- Pneumocystis jirovecii pneumonia detection and treatment
- DNA Repair Mechanisms
Hospital de Dona Estefânia
2016-2025
Universidade Nova de Lisboa
2015-2025
Centro Hospitalar de Lisboa Central
2010-2023
University of Lisbon
2021-2023
Hospital da Luz
2021-2022
Nova Medical (United States)
2019-2021
Amsterdam University Medical Centers
2021
National Institute of Allergy and Infectious Diseases
2019
National Institutes of Health
2016-2019
National Institute of Health
2019
Summ a r y WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4).Myelokathexis neutropenia neutrophil retention bone marrow.Patients with are often treated granulocyte colony-stimulating factor (G-CSF), which can increase counts but does not affect cytopenias other than neutropenia.In this investigator-initiated,...
Background: The autoinflammation and phospholipase Cγ2 (PLCγ2)-associated antibody deficiency immune dysregulation (APLAID) syndrome is a rare primary immunodeficiency caused by gain-of-function mutation S707Y in the PLCG2 gene previously described two patients from one family. APLAID presented with early-onset blistering skin lesions, posterior uveitis, inflammatory bowel disease (IBD) recurrent sinopulmonary infections humoral defect, but lacked circulating autoantibodies had no...
Autoimmunity develops as a result of breakdown in immune tolerance and activation autoreactive cells. Most the common autoimmune diseases are polygenic (1) suggesting dysregulation multiple signalling pathways. By contrast, monogenic Inborn Errors Immunity (IEI), which also can autoimmunity, disease is triggered by single genetic defect. Therefore, discovery causative mutations IEI allows tracing molecular mechanisms leading to autoimmunity humans from defect function specific gene patients...
DNA Ligase 4 is critical to nonhomologous end joining, necessary for V(D)J recombination in T and B cell development. deficiency a rare autosomal recessive disorder caused by hypomorphic mutations the gene, that can lead wide range of phenotypes. We describe case causing type T-B-NK+ atypical SCID, highlighting clinical immunologic manifestations. An eight-year-old female, from São Nicolau Island (Cape Verde), presented at our hospital with history recurrent pneumonia suppurative otitis,...
Patients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated their underlying chromosomal aberrations outside well-known examples Down and DiGeorge syndromes. Therefore, we performed this retrospective, observational survey study. All members European Society for Immunodeficiencies (ESID) were invited to participate by reporting patients aberration (excluding syndromes) in...
Background:In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown be involved in complex etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype ideal management these patients often differ from those IBD. However, due high costs complexity of data analysis, high-throughput screening for causes has not yet become standard part diagnostic work-up eoIBD patients.
Abstract Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see limited number of cases during their career. Diseases multi-organ autoimmunity autoinflammation especially challenging, they characterized by diverse clinical phenotypes highly variable expressivity. The GAIN consortium (German Auto Immunity Network) developed dataset addressing these challenges. ICD-11, HPO, ATC codes were incorporated to document various...
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defect in production of phagocyte-derived reactive oxygen species, which leads to recurrent infections with characteristic group pathogens not previously known include methylotrophs. Methylotrophs are versatile environmental bacteria that can use single-carbon organic compounds as their sole source energy; they rarely cause immunocompetent persons. We have identified 12 methylotrophs (5 reported here, 7 reported)...
In high-burden countries, Mycobacterium bovis Bacillus Calmette-Guérin (BCG) vaccine is administered in newborn to prevent severe tuberculosis infection. Because life-threatening disseminated BCG disease may occur children with primary immunodeficiency, vaccination strategy against should be redefined non-high-burden countries. We report the case of a patient X-linked combined immunodeficiency (SCID) who developed disease, highlighting specific strategies adopted.
We report a case of 5-year-old boy with acute disseminated encephalomyelitis as the initial presentation neuroborreliosis. Parents an upper-airway infection few days before development encephalopathy, mild facial palsy, and seizures. The patient needed mechanical ventilation for 10 days, after extubation, he presented hypotonia, ataxia, dysarthria, well weak gag cough reflexes. Brain magnetic resonance imaging showed hyperintense lesions on T2- fluid-attenuated inversion recovery sequences...
Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies VEOIBD have been identified, many highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause a subset patients with unique clinical presentation. Whole exome sequencing was performed on five families ten who presented similar...
Autoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute mononucleosis, hepatitis, cholestasis, an autoimmune disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration persistent fever, anemia, hepatosplenomegaly was consistent AIHA plus concomitant HLH. patient treated corticosteroids acyclovir, uneventful recovery. Although rare,...
Mevalonic aciduria represents the most severe form of mevalonate kinase deficiency (MKD). Patients with mevalonic have an incomplete response even to high doses anti-cytokine drugs such as anakinra or canakinumab and stem cell transplantation (SCT) a possible therapy for this disease.We report first two children affected by MKD who received haploidentical α/β T-cell B-cell depleted SCT. Both patients treosulfan-based conditioning regimen one second haploidentical-SCT secondary rejection...
X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, minority of these phenotype, similar to IL-7R-deficient patients. We report patient novel missense p.Glu297Gly mutation IL2RG presenting leaky delayed onset, moderate susceptibility infections, nodular regenerative hyperplasia. He presents preserved STAT5 tyrosine phosphorylation response IL-15...
Abstract Stevens–Johnson syndrome ( SJS ) and toxic epidermal necrolysis TEN are rare but serious dermatologic diseases with many potential multisystem complications. We describe the case of an 8‐year‐old girl who developed severe / overlap (25% her body surface area was affected) complicated by pancreatitis bronchiolitis obliterans. These complications emphasize need for careful, intensive monitoring possible interdisciplinary team approach to provide optimal treatment follow‐up.