Cargando…

Atypical Presentations of IPEX: Expect the Unexpected

Immune dysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) syndrome is a rare disorder that has become a model of monogenic autoimmunity. IPEX is caused by mutations in FOXP3 gene, a master regulator of regulatory T cells (Treg). Cases reported in the last 20 years demonstrate that I...

Descripción completa

Detalles Bibliográficos
Autores principales:	Consonni, Filippo, Ciullini Mannurita, Sara, Gambineri, Eleonora
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7892580/ https://www.ncbi.nlm.nih.gov/pubmed/33614561 http://dx.doi.org/10.3389/fped.2021.643094

Ejemplares similares

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
por: Gambineri, Eleonora, et al.
Publicado: (2018)

Intrauterine IPEX
por: Carneiro-Sampaio, Magda, et al.
Publicado: (2020)

IL-2 Signaling Axis Defects: How Many Faces?
por: Consonni, Filippo, et al.
Publicado: (2021)

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome
por: Barzaghi, F., et al.
Publicado: (2012)

IPEX as a Consequence of Alternatively Spliced FOXP3
por: Mailer, Reiner K.
Publicado: (2020)

IPEX Syndrome: Improved Knowledge of Immune Pathogenesis Empowers Diagnosis
por: Barzaghi, Federica, et al.
Publicado: (2021)

Editorial: IPEX 2020: An Expanding Disease Spectrum and Novel Precision Therapies
por: Bacchetta, Rosa, et al.
Publicado: (2022)

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome
por: Eren Akarcan, Sanem, et al.
Publicado: (2018)

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea
por: Zama, Daniele, et al.
Publicado: (2014)

Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study
por: Schiavo, Ebe, et al.
Publicado: (2022)

Acute Right-Sided Abdominal Pain in an Adolescent: Expect the Unexpected
por: Abuelazm, Somaya, et al.
Publicado: (2021)

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome
por: Passerini, Laura, et al.
Publicado: (2011)

FOXP3 and Tip60 Structural Interactions Relevant to IPEX Development Lead to Potential Therapeutics to Increase FOXP3 Dependent Suppressor T Cell Functions
por: Grover, Payal, et al.
Publicado: (2021)

Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders
por: Bakhtiar, Shahrzad, et al.
Publicado: (2019)

IPEX Syndrome: Genetics and Treatment Options
por: Ben-Skowronek, Iwona
Publicado: (2021)

Gastric Adenocarcinoma in the Setting of IPEX Syndrome
por: Steffin, David, et al.
Publicado: (2021)

Towards gene therapy for IPEX syndrome
por: Borna, Simon, et al.
Publicado: (2022)

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm
por: Seaby, Eleanor G., et al.
Publicado: (2017)

Extrapulmonic presentation of tuberculosis: An atypical urogenital presentation of a common disease
por: Pagni, Matthew, et al.
Publicado: (2020)

ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies
por: Consonni, Filippo, et al.
Publicado: (2022)

Unusual imaging presentation of infantile atypical Kawasaki disease
por: Kumar, Nishith, et al.
Publicado: (2016)

Atypical presentation of obstructed hemivagina and ipsilateral renal anomaly
por: Grant, Campbell, et al.
Publicado: (2018)

Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay
por: Jayaprakasan, Srilakshmi K, et al.
Publicado: (2023)

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy
por: Kadakia, Sejal, et al.
Publicado: (2019)

IPEX as a Result of Mutations in FOXP3
por: van der Vliet, Hans J. J., et al.
Publicado: (2007)

Erythema and Induration at BCG Site in IPEX Syndrome
por: Castano-Jaramillo, Lina Maria, et al.
Publicado: (2022)

An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report
por: Tidke, Shivangi C, et al.
Publicado: (2023)

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn
por: Losa, Ana, et al.
Publicado: (2023)

Extensive dental caries and periodontal disease in a child with GATA2 deficiency
por: Consonni, Filippo, et al.
Publicado: (2023)

Atypical Presentation of Fibrodysplasia Ossificans Progressiva: A Case Report and Review of Literature
por: Tiwari, Vivek, et al.
Publicado: (2018)

Accidental Pyrethroid Ingestion in Toddler: Near-Fatal Atypical Presentation and Successful Recovery
por: Pallavidino, Marco, et al.
Publicado: (2020)

Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation
por: Gambineri, Eleonora, et al.
Publicado: (2015)

A delayed diagnosis of atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A case report
por: Zhang, Ying, et al.
Publicado: (2021)

Expect the Unexpected!
por: Zimmerman, Karen G., et al.
Publicado: (2021)

Expect the unexpected
por: Rathee, Manu
Publicado: (2014)

Expecting the unexpected
Publicado: (1995)

A comparative assessment of the accuracies of Raypex 5, Raypex 6, iPex and iPex II electronic apex locators: An in vitro study
por: Gurel, Mugem Asli, et al.
Publicado: (2017)

Atypical Kawasaki Disease Presentation in a Previously Healthy Infant: A Diagnostic Challenge
por: Raza, Ali Aizad, et al.
Publicado: (2023)

SAT-306 An Atypical Presentation of Klinefelter Syndrome
por: Shah, Avni, et al.
Publicado: (2019)

THU201 Atypical Presentation Of Kallmann Syndrome With A Rare Genetic Mutation
por: Montgomery, Emily L, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_qv4hgcas3g89lqulcho85sqfua