Nijmegen breakage syndrome (NBS)
Tags: AUTOSOMAL recessive polycystic kidney; MICROCEPHALY; IMMUNODEFICIENCY; MEDICAL genetics; HEMATOPOIETIC stem cells -- Transplantation
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- Gene Therapy for SCID-X1: Round 2. Herzog, Roland W. // Molecular Therapy;Nov2010, Vol. 18 Issue 11, p1891
The article offers information on gene therapy in relation with X-linked severe combined immunodeficiency. It says that gene therapies were conducted in two clinical trials in France and Great Britain but the clinical trials have been postponed because the patients developed leukemia due to...
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Adenosine deaminase deficiency is a disorder of purine metabolism manifesting severe combined immunodeficiency (ADA-SCID) and systemic abnormalities. Increased levels of the substrate deoxyadenosine triphosphate (dATP) lead to immunodeficiency and are associated in a murine model with pulmonary...
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In this article, the author discusses the effectiveness of gene therapy for the treatment of severe combined immunodeficiency (SCID). He mentions that the absence of the transplantation of allogeneic hematopoietic stem cells (HSCs) has driven the emergence of the idea of gene therapy in which...
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Reactivation of latent cytomegalovirus (CMV) in the transient state of immunodeficiency after hematopoietic cell transplantation (HCT) is the most frequent and severe viral complication endangering leukemia therapy success. By infecting the bone marrow (BM) stroma of the transplantation...
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Background: Hematopoietic stem cell transplant using human leukocyte antigen (HLA)- matched sibling or unrelated bone marrow, or related or unrelated cord blood has been performed successfully to treat patients with different types of hematological malignancies, genetic disorders and hereditary...
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Introduction Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by a mutation of the WAS protein gene. This protein actively participates in important cellular processes, and its presence is related to diverse clinical manifestations, including cutaneous alterations....
- Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene. Mih�i, Ercan; T�rkkahraman, Doga; Ellard, Sian; Ak�urin, Sema; Bircan, Iffet // Journal of Clinical Research in Pediatric Endocrinology;Jun2012, Vol. 4 Issue 2, p101
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2a kinase...
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Albumin, a serum transport protein, provides 80% of colloid osmotic pressure. Congenital analbuminemia (CAA) is an autosomal recessive disorder characterized by absence of serum albumin. Fifty cases of CAA have been reported throughout the world; however, little is known about its clinical...
