Cargando…

Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations

Detalles Bibliográficos
Autores principales:	Nademi, Zohreh, Radwan, Nesrine, Rao, Kanchan, Gilmour, Kimberly, Worth, Austen, Booth, Claire
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2019
Materias:	Letter to Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086673/ https://www.ncbi.nlm.nih.gov/pubmed/31144249 http://dx.doi.org/10.1007/s10875-019-00649-w

Ejemplares similares

X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective
por: Panchal, Neelam, et al.
Publicado: (2018)

X‐linked lymphoproliferative syndrome associated with Epstein–Barr virus encephalitis and lymphoproliferative disorder
por: Mukai, Takeo, et al.
Publicado: (2023)

Transfer of gene-corrected T cells corrects humoral and cytotoxic defects in patients with X-linked lymphoproliferative disease
por: Panchal, Neelam, et al.
Publicado: (2018)

Lymphoma and cerebral vasculitis in association with X-linked lymphoproliferative disease
por: Zhu, Jia, et al.
Publicado: (2013)

Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations
por: Isaacs, David, et al.
Publicado: (2017)

X-Linked Lymphoproliferative Disease Presenting as Pancytopenia in a 10-Month-Old Boy
por: Chadha, S. Nicole, et al.
Publicado: (2010)

Diacylglycerol Kinase alpha in X Linked Lymphoproliferative Disease Type 1
por: Velnati, Suresh, et al.
Publicado: (2021)

Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience
por: Kreins, Alexandra Y., et al.
Publicado: (2021)

The Caregiver Identity in Context: The Consequences of Identity Threat From Siblings
por: Rurka, Marissa, et al.
Publicado: (2020)

THE CAREGIVER IDENTITY IN CONTEXT: CONSEQUENCES OF IDENTITY THREAT FROM SIBLINGS
por: Rurka, Marissa, et al.
Publicado: (2022)

Epstein-Barr virus induced hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease
por: Sankararaman, Senthilkumar, et al.
Publicado: (2014)

137 Hypogammaglobulinemia in a Boy: Consider Also X-linked Lymphoproliferative Disease
por: Gamez, Luisa, et al.
Publicado: (2012)

Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1
por: Tamura, Akihiro, et al.
Publicado: (2018)

Sibling risks in cancer: clues to recessive or X-linked genes?
por: Hemminki, K, et al.
Publicado: (2001)

X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases
por: Nokalna, Ieva, et al.
Publicado: (2020)

X-linked lymphoproliferative syndrome in mainland China: review of clinical, genetic, and immunological characteristic
por: Xu, Tao, et al.
Publicado: (2019)

Fatal SARS in X-Linked Lymphoproliferative Disease Type 1: A Case Report
por: Chung, Ming Hin, et al.
Publicado: (2022)

Outcome of Hematopoietic Stem Cell Transplantation in patients with Mendelian Susceptibility to Mycobacterial Diseases
por: Radwan, Nesrine, et al.
Publicado: (2021)

Varied phenotypic presentations of Homocystinuria in two siblings
por: Kaliaperumal, Subashini, et al.
Publicado: (2014)

Preimplantation Genetic Testing for a Chinese Family With X-Linked Lymphoproliferative Syndrome Type 1
por: Chen, Songchang, et al.
Publicado: (2020)

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children—A Case Report
por: Prader, Seraina, et al.
Publicado: (2021)

Biosimilar FSH preparations- are they identical twins or just siblings?
por: Orvieto, Raoul, et al.
Publicado: (2016)

Host natural killer immunity is a key indicator of permissiveness for donor cell engraftment in patients with severe combined immunodeficiency()
por: Hassan, Amel, et al.
Publicado: (2014)

Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease
por: CHRISTODOULOU, Panayiotis, et al.
Publicado: (2019)

Allogeneic Lymphocyte Transfer in MHC-Identical Siblings and MHC-Identical Unrelated Mauritian Cynomolgus Macaques
por: Mee, Edward T., et al.
Publicado: (2014)

Erratum: Biosimilar FSH preparations- are they identical twins or just siblings?
por: Orvieto, Raoul, et al.
Publicado: (2016)

Comment on “Biosimilar FSH preparations- are they identical twins or just siblings?”
por: Strowitzki, Thomas, et al.
Publicado: (2016)

Autoimmune lymphoproliferative syndrome identified through reverse phenotyping
por: Kocheva, Svetlana, et al.
Publicado: (2022)

First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey
por: Kesici, Selman, et al.
Publicado: (2018)

The Natural History of X-Linked Lymphoproliferative Disease (XLP1): Lessons from a Long-Term Survivor
por: Jiang, Yike, et al.
Publicado: (2020)

Effects of Burosumab Treatment on Two Siblings with X-Linked Hypophosphatemia. Case Report and Literature Review
por: Jurca, Claudia Maria, et al.
Publicado: (2022)

Bone marrow transplantation from alternative donors for thalassemia: HLA-phenotypically identical relative and HLA-nonidentical sibling or parent transplants
por: Gaziev, D, et al.
Publicado: (2000)

Analysis of the Phenotype Differences in Siblings with Alkaptonuria
por: Zatkova, Andrea, et al.
Publicado: (2022)

Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product
por: Pasquier, Benoit, et al.
Publicado: (2005)

Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome
por: Cruikshank, Mary, et al.
Publicado: (2015)

Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3
por: Knebel, Birgit, et al.
Publicado: (2016)

Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report
por: Francisco Junior, Ronaldo da Silva, et al.
Publicado: (2022)

Phenotypic variation between siblings with Metachromatic Leukodystrophy
por: Elgün, Saskia, et al.
Publicado: (2019)

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

Tumor Necrosis Factor Sustains the Generalized Lymphoproliferative Disorder ( gld ) Phenotype
por: Körner, Heinrich, et al.
Publicado: (2000)

Cannot write session to /tmp/vufind_sessions/sess_kbi56rshm701qn0dnu15frk7pd