J. Neves

发表

Mark S. Anderson, J. Casanova, J. Fellay, 2021, The Journal of experimental medicine.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

C. Klein, A. Franke, H. von Bernuth, 2017, Inflammatory bowel diseases.

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

A. Plebani, C. Pignata, H. Kanegane, 2019, The World Allergy Organization Journal.

Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family.

M. Brito, J. Neves, A. Cordeiro, 2019, The Pediatric infectious disease journal.

Invasive Meningococcal Disease Unraveling a Novel Mutation in the C5 Gene in a Portuguese Family.

M. Brito, J. Neves, A. Cordeiro, 2019, The Pediatric infectious disease journal.

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

J. Casanova, A. Puel, W. Lei, 2021, Journal of Clinical Immunology.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

The mysterious pleural effusion

R. Neves, J. Neves, G. Pereira, 2014 .

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases

J. Neves, C. Martins, R. Maia, 2022, Frontiers in Immunology.

Successful handling of autoimmunity in X‐linked thrombocytopenia (XLT) using mycophenolate mofetil

J. Neves, A. Cordeiro, C. Neves, 2012, Pediatric blood & cancer.

Congenital nephrotic syndrome in IL7Rα-SCID - a rare feature of materno-foetal graft-versus-host disease.

A. Gennery, M. Slatter, S. Hambleton, 2021, The journal of allergy and clinical immunology. In practice.

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency.

S. Holland, V. Cetica, A. Hsu, 2015, The Journal of allergy and clinical immunology.

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

Variants in STXBP3 Are Associated With Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Noor B. Dawany, W. Chung, J. Kelsen, 2021, Journal of Crohn's & colitis.

Precision medicine: The use of tailored therapy in primary immunodeficiencies

M. V. Pinto, J. Neves, 2022, Frontiers in Immunology.

Plerixafor for the Treatment of WHIM Syndrome

S. Pittaluga, E. Landon, C. Buck, 2019, The New England journal of medicine.

HAPLOIDENTICAL α/β T-CELL AND B-CELL STEM CELL TRANSPLANTATION IN SEVERE MEVALONATE KINASE DEFICIENCY.

M. Faraci, S. Volpi, M. Gattorno, 2021, Rheumatology.

Case Report: Primary Immunodeficiencies, Massive EBV+ T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome

Catarina Araújo, J. Neves, C. Martins, 2021, Frontiers in Immunology.

Hemophagocytic lymphohistiocytosis secondary to Falciparum malaria in a 5 year-old boy

C. Gouveia, J. Neves, L. Varandas, 2014, Annals of Hematology.

ERYTHRODERMIA: THE FIRST MANIFESTATION OF COMBINED IMMUNODEFICIENCY

J. Neves, M. J. Lopes, F. Diamantino, 2016 .

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation

S. Nejentsev, D. Moshous, K. Gilmour, 2019, Journal of pediatric hematology/oncology.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

S. Nejentsev, V. Plagnol, M. Katan, 2018, Front. Immunol..

Methylotroph Infections and Chronic Granulomatous Disease

S. Holland, B. Ford, C. Zerbe, 2016, Emerging infectious diseases.

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation

J. P. Vieira, Y. Bryceson, B. Tesi, 2019, The Pediatric infectious disease journal.

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

L. Borrego, C. Lacoste, C. Badens, 2017, European journal of medical genetics.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Genitourinary tumors, non-prostate

S. J. Park, I. Tannock, S. Groshen, 2012 .

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Andrew J. Oler, Eglantine Ferrand Devouge, P. Gregersen, 2023, Genome Medicine.

Nonlethal, attenuated, transfusion‐associated graft‐versus‐host disease in an immunocompromised child: case report and review of the literature

J. Neves, Deolinda Barata, Rosalina Valente, 2010, Transfusion.

Primary immunodeficiency associated with chromosomal aberration – an ESID survey

P. Soler-Palacín, D. Vinh, S. Henriet, 2016, Orphanet Journal of Rare Diseases.

Successful Handling of Disseminated BCG Disease in a Child with Severe Combined Immunodeficiency

A. Schulz, J. Neves, Deolinda Barata, 2011, Case Reports in Medicine.

[H Factor Deficiency: A Case with an Atypical Presentation].

J. Neves, C. Neves, A. Rocha, 2019, Acta Médica Portuguesa.

Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene

C. Gouveia, M. V. Pinto, J. Neves, 2022, Frontiers in Pediatrics.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis

S. Holland, A. Zelazny, M. J. Simões, 2019, Emerging infectious diseases.