Spectrum of Atypical Clinical Presentations in Patients with BiallelicPRF1Missense Mutations
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Spectrum of Atypical Clinical Presentations in Patients with BiallelicPRF1Missense Mutations
Authors
Keywords
-
Journal
PEDIATRIC BLOOD & CANCER
Volume 62, Issue 12, Pages 2094-2100
Publisher
Wiley
Online
2015-07-16
DOI
10.1002/pbc.25646
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers
- (2014) Claire Aguilar et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Unusual Clinical Presentations of Familial Hemophagocytic Lymphohistiocytosis Type-2
- (2014) Snehal Mhatre et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missensePRF1mutation
- (2014) Ayad Ahmed Hussein et al. PEDIATRIC BLOOD & CANCER
- Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning
- (2014) Elena Sieni et al. Frontiers in Immunology
- Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production
- (2013) S. C. C. Chiang et al. BLOOD
- Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation
- (2013) Cristina Dias et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recurrent Macrophage Activation Syndrome Associated With Heterozygous Perforin W374X Gene Mutation in a Child with Systemic Juvenile Idiopathic Arthritis
- (2013) Sule Unal et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis
- (2012) K. Deiva et al. NEUROLOGY
- Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
- (2011) M. Meeths et al. BLOOD
- Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
- (2011) K. Zhang et al. BLOOD
- Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
- (2010) M. Meeths et al. BLOOD
- Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases
- (2010) J. Rohr et al. HAEMATOLOGICA
- The structural basis for membrane binding and pore formation by lymphocyte perforin
- (2010) Ruby H. P. Law et al. NATURE
- Perforin deficiency attenuates inflammation and tumor growth in colitis-associated cancer
- (2009) Maximilian J. Waldner et al. INFLAMMATORY BOWEL DISEASES
- Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer
- (2009) J. Chia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis
- (2009) Sebastiaan J. Vastert et al. RHEUMATOLOGY
- Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms
- (2008) Kejian Zhang et al. ARTHRITIS AND RHEUMATISM
- Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis
- (2008) AnnaCarin Horne et al. BRITISH JOURNAL OF HAEMATOLOGY
- A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency
- (2007) Andrew D. Beaty et al. PEDIATRIC BLOOD & CANCER
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now