Laure Kornreich

Early Severe Pseudomonas Infections Revealing MyD88 Deficiency in Two Siblings: A Case Report

Louise Belenger, Laure Kornreich, Céline Mignon, Guillaume Smits et autres

MyD88 deficiency is an innate immune deficiency that confers susceptibility to bacterial infections, particularly S. pneumoniae , S. aureus , and P. aeruginosa . This autosomal recessive deficiency was first described in 2008 by Van Bernuth et al. Most infections occur before …

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Hemorrhagic Cystitis Following Hematopoietic Stem Cell Transplantation in Children: A Single Pediatric Center Experience

Pauline Mazilier, Laurence Dedeken, Eleonore Powis, Pierluigi Calò et autres

BACKGROUND: Hemorrhagic cystitis (HC) is a frequent and potentially severe complication following hematopoietic stem cell transplantation (HSCT) in children. It significantly affects the quality of life and prolongs hospitalization. Despite its frequency, no standardized management guidelines exist. This study aimed to describe …

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Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond

Elien Beyls, Evi Duthoo, Lynn Backers, Karlien Claes et autres

Human inborn errors of immunity (IEI) represent a diverse group of genetic disorders affecting the innate and/or adaptive immune system. Some IEI entities comprise defects in DNA repair factors, resulting in (severe) combined immunodeficiencies, bone marrow failure, predisposition to malignancies, and potentially …

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Results of the prospective EORTC Children Leukemia Group study 58081 in precursor B‐ and T‐cell acute lymphoblastic leukemia

Carine Domenech, Michal Kiciński, Barbara De Moerloose, Caroline Piette et autres

Abstract Here, we report the results of the prospective cohort study EORTC‐CLG 58081 and compare them to the control arm of the randomized phase 3 trial EORTC‐CLG 58951, on which treatment recommendations were built. In both studies, patients aged 1–18 years with …

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Outcomes of Children with Sickle Cell Disease Born Outside Belgium Remain Different Compared to Those Born in Belgium Despite Similar Management

Emily Antonovics, Alina Ferster, Laurence Dedeken, Andrea Nebbioso et autres

Sickle cell disease (SCD) is characterised by a multitude of phenotypic expressions that are influenced by the environment and genetics. The only well-established treatments are infection prevention, hydroxyurea (HU), chronic transfusions, and hematopoietic stem-cell transplantation (HSCT). Early strategies facilitated by neonatal screening …

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Oral vinorelbine in young patients with desmoid-type fibromatosis

Laure Kornreich, Daniel Orbach, Nayla Nicolas, Hervé J. Brisse et autres

BACKGROUND: Desmoid-type fibromatosis are rare intermediate tumors in children and adolescents. Owing to local aggressiveness and relapse, systemic treatment for symptomatic advanced or progressive forms is recommended. Following promising results in adult patients, oral vinorelbine is investigated in young patients. METHODS: A …

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Growth Hormone Replacement Therapy Seems to Be Safe in Children with Low-Grade Midline Glioma: A Series of 124 Cases with Review of the Literature

Coline Bret Puvilland, Carine Villanueva, Anaëlle Hemmendinger, Laure Kornreich et autres

There is little scientific evidence regarding the safety of GHRT in LGG, where GH deficiency is common. Purpose: to compare the recurrence rate in children with midline LGG, depending on whether or not they have received GHRT, in order to assess its …

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A paediatric myelodysplastic syndrome with 5q deletion associated with Fanconi anaemia

Laure Kornreich, Jean Soulier, Béatrice Grange, Sandrine Girard et autres

Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation

Hannah Tamary, Isaac Yaniv, Joel Stein, Orly Dgany et autres

OBJECTIVES: Familial thrombocytopenia is a relatively rare and heterogeneous group of clinical and genetic syndromes of unknown etiology. Recently, mutations in a few hematopoietic transcription factors were implicated in dysmegakaryopoiesis with and without dyserythropoietic anemia. The aim of the present study was …

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Tietze’s syndrome in children and infants

M Mukamel, Laure Kornreich, Gadi Horev, A. Zebria et autres

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