John Libbey Eurotext

Hématologie

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Wiskott-Aldrich syndrome Ahead of print

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Authors
1 Unité immuno hématooncologie pédiatrique, CRCINA, U1232, CHU Angers, université Angers, Angers
2 Laboratoire immunologie, CRCINA, U1232, CHU Angers, université Angers, Angers
3 Ceredih, unité immunohématopédiatrique, hôpital Necker-Enfants Malades, Sorbonne Paris Cité, Imagine Institute, U 1163, université Paris Descartes, Collège de France, Paris
4 Ceredih, unité immunohématopédiatrique, hôpital Necker-Enfants Malades, Sorbonne Paris Cité, Imagine Institute, U 1163, université Paris Descartes, Collège de France, Paris
* Correspondence

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder, characterised by a classic triad of microthrombocytopenia, eczema and infections. It is a monogenic X-linked recessive disorder. X-linked thrombocytopenia (XLT) is now considered to be part of this syndrome with clinical forms initially described as less severe, but the non-serious evolution of which is now questioned. WAS/XLT usually occurs during childhood, but neonatal onset is possible. This pathology is associated with an increased risk of autoimmune manifestations and onco-haematological complications which can occur regardless of the initial severity. The first manifestations are haemorrhagic (petechiae, bruising, purpura, epistaxis, oral or intracranial bleeding, bloody diarrhoea). The second characteristic is acute or chronic eczema. As a result of the immune deficiency, there are infectious manifestations (airways, digestive tract, skin) due to conventional or opportunistic bacteria. The severity of the disease, in addition to severe infectious complications, is linked to autoimmune manifestations in more than 40% of cases (haemolytic anaemia and/or autoimmune neutropenia, vasculitis, inflammatory colitis, glomerulopathy and inflammatory joint pathologies). Patients with WAS also have an increased risk of developing tumours (especially lymphomas) at any age. Therapeutic progress in recent years has been based on better management of complications, better results of bone marrow transplantation, and the development of gene therapy.