Literature DB >> 17443345

Intracranial aneurysm associated with chronic mucocutaneous candidiasis.

M G Marazzi1, E Bondi, A Giannattasio, M Strozzi, C Savioli.   

Abstract

Chronic mucocutaneous candidiasis (CMC) is a syndrome characterised by immune deficiency, often presenting familial dominant inheritance and association with autoimmune endocrinopathies. We report on a patient with CMC who died at 5 years of age of a brain haemorrhage following the rupture of a basilar-artery aneurysm. Candida hyphae in the basilar artery were found at autopsy. A common immunologic abnormality in CMC is the failure of patient's T-lymphocytes to produce cytokines, which are essential for expression of cell-mediated immunity to Candida. Therefore, long-term treatment is mandatory.

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Year:  2007        PMID: 17443345     DOI: 10.1007/s00431-007-0490-3

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  6 in total

1.  Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Authors:  B L Loeys; R N Van Coster; L R Defreyne; J G Leroy
Journal:  Eur J Pediatr       Date:  1999-08       Impact factor: 3.183

Review 2.  Chronic mucocutaneous candidiasis.

Authors:  C H Kirkpatrick
Journal:  Pediatr Infect Dis J       Date:  2001-02       Impact factor: 2.129

3.  Cerebral vasculitis in chronic mucocutaneous candidiasis: autopsy case report.

Authors:  T Nagashima; A Miyanoshita; Y Sakiyama; Y Ozaki; A C Stan; K Nagashima
Journal:  Neuropathology       Date:  2000-12       Impact factor: 1.906

4.  Long-term therapy of chronic mucocutaneous candidiasis with ketoconazole: experience with twenty-one patients.

Authors:  C R Horsburgh; C H Kirkpatrick
Journal:  Am J Med       Date:  1983-01-24       Impact factor: 4.965

5.  Cerebral vasculitis associated with chronic mucocutaneous candidiasis.

Authors:  M Grouhi; I Dalal; E Nisbet-Brown; C M Roifman
Journal:  J Pediatr       Date:  1998-10       Impact factor: 4.406

6.  Aneurysm associated with chronic mucocutaneous candidiasis during long-term therapy with ketoconazole.

Authors:  D Leroy; A Dompmartin; J P Houtteville; J Theron
Journal:  Dermatologica       Date:  1989
  6 in total
  11 in total

Review 1.  Intracranial aneurysms: from vessel wall pathology to therapeutic approach.

Authors:  Timo Krings; Daniel M Mandell; Tim-Rasmus Kiehl; Sasikhan Geibprasert; Michael Tymianski; Hortensia Alvarez; Karel G terBrugge; Franz-Josef Hans
Journal:  Nat Rev Neurol       Date:  2011-09-20       Impact factor: 42.937

Review 2.  Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

Authors:  Anne Puel; Capucine Picard; Sophie Cypowyj; Desa Lilic; Laurent Abel; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2010-07-30       Impact factor: 7.486

Review 3.  Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.

Authors:  Anne Puel; Sophie Cypowyj; László Maródi; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Journal:  Curr Opin Allergy Clin Immunol       Date:  2012-12

4.  A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

Authors:  Jakob Nielsen; Emil Kofod-Olsen; Eva Spaun; Carsten S Larsen; Mette Christiansen; Trine Hyrup Mogensen
Journal:  BMJ Case Rep       Date:  2015-10-22

Review 5.  Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors:  Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2020-08-27       Impact factor: 8.317

6.  Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Authors:  Julie Toubiana; Satoshi Okada; Julia Hiller; Matias Oleastro; Macarena Lagos Gomez; Juan Carlos Aldave Becerra; Marie Ouachée-Chardin; Fanny Fouyssac; Katta Mohan Girisha; Amos Etzioni; Joris Van Montfrans; Yildiz Camcioglu; Leigh Ann Kerns; Bernd Belohradsky; Stéphane Blanche; Aziz Bousfiha; Carlos Rodriguez-Gallego; Isabelle Meyts; Kai Kisand; Janine Reichenbach; Ellen D Renner; Sergio Rosenzweig; Bodo Grimbacher; Frank L van de Veerdonk; Claudia Traidl-Hoffmann; Capucine Picard; Laszlo Marodi; Tomohiro Morio; Masao Kobayashi; Desa Lilic; Joshua D Milner; Steven Holland; Jean-Laurent Casanova; Anne Puel
Journal:  Blood       Date:  2016-04-25       Impact factor: 22.113

7.  STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses.

Authors:  Ori Scott; Kyle Lindsay; Steven Erwood; Antonio Mollica; Chaim M Roifman; Ronald D Cohn; Evgueni A Ivakine
Journal:  NPJ Genom Med       Date:  2021-05-14       Impact factor: 8.617

Review 8.  Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy.

Authors:  Anna R Huppler; Shrinivas Bishu; Sarah L Gaffen
Journal:  Arthritis Res Ther       Date:  2012-07-23       Impact factor: 5.156

9.  New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Authors:  Beáta Soltész; Beáta Tóth; Nadejda Shabashova; Anastasia Bondarenko; Satoshi Okada; Sophie Cypowyj; Avinash Abhyankar; Gabriella Csorba; Szilvia Taskó; Adrien Katalin Sarkadi; Leonóra Méhes; Pavel Rozsíval; David Neumann; Liudmyla Chernyshova; Zsolt Tulassay; Anne Puel; Jean-Laurent Casanova; Anna Sediva; Jiri Litzman; László Maródi
Journal:  J Med Genet       Date:  2013-05-24       Impact factor: 6.318

10.  The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Authors:  Mark Depner; Sebastian Fuchs; Jan Raabe; Natalie Frede; Cristina Glocker; Rainer Doffinger; Effrossyni Gkrania-Klotsas; Dinakantha Kumararatne; T Prescott Atkinson; Harry W Schroeder; Tim Niehues; Gregor Dückers; Asbjørg Stray-Pedersen; Ulrich Baumann; Reinhold Schmidt; Jose L Franco; Julio Orrego; Moshe Ben-Shoshan; Christine McCusker; Cristina Miuki Abe Jacob; Magda Carneiro-Sampaio; Lisa A Devlin; J David M Edgar; Paul Henderson; Richard K Russell; Anne-Bine Skytte; Suranjith L Seneviratne; Jennifer Wanders; Hans Stauss; Isabelle Meyts; Leen Moens; Milos Jesenak; Robin Kobbe; Stephan Borte; Michael Borte; Dowain A Wright; David Hagin; Troy R Torgerson; Bodo Grimbacher
Journal:  J Clin Immunol       Date:  2015-11-25       Impact factor: 8.317

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