X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.

A large proportion of patients with mutations in the Wiskott-Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Whereas stem cell transplantation at an early age is the treatment of choice for patients with WAS, therapeutic options for patients with XLT are controversial. In a retrospective multicenter study we defined the clinical phenotype of XLT and determined the probability of severe disease-related complications in patients older than 2 years with documented WAS gene mutations and mild-to-moderate eczema or mild, infrequent infections. Enrolled were 173 patients (median age, 11.5 years) from 12 countries spanning 2830 patient-years. Serious bleeding episodes occurred in 13.9%, life-threatening infections in 6.9%, autoimmunity in 12.1%, and malignancy in 5.2% of patients. Overall and event-free survival probabilities were not significantly influenced by the type of mutation or intravenous immunoglobulin or antibiotic prophylaxis. Splenectomy resulted in increased risk of severe infections. This analysis of the clinical outcome and molecular basis of patients with XLT shows excellent long-term survival but also a high probability of severe disease-related complications. These observations will allow better decision making when considering treatment options for individual patients with XLT.

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Immunologi inom det medicinska området hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Immunology in the medical area hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Pediatrik hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Pediatrics hsv//eng
Adolescent
Adult
Aged
Autoimmune Diseases
epidemiology
etiology
Child
Child
Preschool
Disease-Free Survival
Female
Genes
X-Linked
Hemorrhage
epidemiology
etiology
Humans
Incidence
Infection
epidemiology
etiology
Kaplan-Meier Estimate
Male
Middle Aged
Mutation
Neoplasms
epidemiology
etiology
Phenotype
Retrospective Studies
Thrombocytopenia
complications
genetics
mortality
Wiskott-Aldrich Syndrome Protein
genetics
Young Adult

Bittner, Tanja C (author)
Nonoyama, Shigeaki (author)
Notarangelo, Lucia Dora (author)
Burns, Siobhan (author)
Imai, Kohsuke (author)
Espanol, Teresa (author)
Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xfasan (author)
Pellier, Isabelle (author)
Strauss, Gabriele (author)
Morio, Tomohiro (author)
Gathmann, Benjamin (author)
Noordzij, Jeroen G (author)
Fillat, Cristina (author)
Hoenig, Manfred (author)
Nathrath, Michaela (author)
Meindl, Alfons (author)
Pagel, Philipp (author)
Wintergerst, Uwe (author)
Fischer, Alain (author)
Thrasher, Adrian J (author)
Belohradsky, Bernd H (author)
Ochs, Hans D (author)
Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik (creator_code:org_t)

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Immunology in th ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

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