ECZEMA
A.L. Billson, A.V. Pearce, C. Tuffrey in Key Topics in Paediatrics, 1994
Atopic eczema affects 3% of children under 5 years old, most commonly from 3 months to 2 years. The skin changes include intraepidermal oedema, which is followed by inflammation and intense itching of the skin. The skin is often erythematous, and may ooze and crust, with later changes of lichenification or alterations of pigmentation. Up to 80% of children affected have a positive family history of atopic conditions. A minor defect of cell-mediated immunity and suppressor T-cell numbers is thought to be a factor in pathogenesis. Rarely, eczema is a feature of another disorder, e.g. Wiskott-Aldrich syndrome, phenylketonuria.
SPONTANEOUS THROMBOSIS OF HEPATIC ANEURYSMS IN AN INFANT WITH WISKOTT–ALDRICH SYNDROME
Published in Pediatric Hematology and Oncology, 2009
Laura Merlini, Sylviane Hanquinet, Tayfun Gungor, Hulya Ozsahin
Vasculitides and aneurysm formation are well-known complications in Wiskott-Aldrich syndrome (WAS), most often appearing later in life, usually in second decade. The authors report the case of a 5-month-old boy with a genetically and phenotypically severe Wiskott-Aldrich syndrome and sequential formation and spontaneous thrombosis of hepatic aneurysms. This case demonstrates that aneurysm formation may develop early in the course of severe WAS phenotypes. Because of the progressive nature of these manifestations, surgical or interventional procedures are not advisable. Early allogeneic hematopoietic stem cell transplantation (HSCT) should be considered before the manifestation of irrreversible organ damage.
Two cases of wiskott–Aldrich syndrome in neonates due to gene mutations
Published in Fetal and Pediatric Pathology, 2013
Shulian Zhang, Rong Zhang, Chao Chen, Jinqiao Sun
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia and immune deficiency. WAS gene mutations impair WAS protein function which cause WAS. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may have similar but less severe symptoms those are also caused by mutations of the same gene. We present two cases of WAS in neonates with WAS gene mutations. Early genetic diagnosis can help to the treatment and prevention this disease.
Genome editing: An alternative to retroviral vectors for Wiskott-Aldrich Syndrome (WAS) Gene Therapy?
Published in Expert Opinion on Orphan Drugs, 2016
F. Martin, A. Gutierrez-Guerrero, S. Sánchez, G. Galvani, K. Benabdellah
Introduction: Hematopoietic stem cells (HSCs) transduced with retroviral vectors (RVs) have shown good therapeutic efficacy in Wiskott-Aldrich Syndrome (WAS). However, RVs integrate randomly into the genome of HSCs which represents a potential safety concern. In this context, gene correction using genome editing (GE) technologies has been proposed as a possible alternative to integrative retroviral vectors. Areas covered: Lentiviral vectors (LVs) have obtained the best results in clinical trials for WAS gene therapy. In this review we will describe the different tools used for GE. The efficiency and safety of WAS gene correction will be put in context with the results obtained with LVs. Expert opinion In spite of their excellent results in recent WAS clinical trials, LVs integrate randomly into the genome and can therefore produce undesired side effects. WAS gene correction by GE could, in theory, avoid these potential problem. However, the low efficiency of gene correction in HSCs hampers the applications of this technology for WAS GT. We can therefore state that LVs are still the tool of choice for WAS gene therapy.
Related Knowledge Centers
- Eczema
- Immunoglobulin
- Hemostatic Disorders
- Chromosome
- Blood Coagulation Disorders
- X-Linked Genetic Diseases
- Hemorrhagic Disorders