Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

Marie‐Olivia Chandesris, Isabelle Melki, Angels Natividad, +44

Medicine

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Jean Donadieu, Odile Fenneteau, Blandine Beaupain, +17

Haematologica

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

Jérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, +32

Blood

Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system

Christelle Dufour, Annick Beaugrand, Marie‐Cécile Le Deley, +11

Cancer

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity

Anne‐Laure Mathieu, Estelle Verronèse, Gillian Rice, +36

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyAutoimmune DiseasePrkdc MutationsImmunodeficienciesImmunology +7

Pulmonary manifestations in adult patients with chronic granulomatous disease

Hélène Salvator, Nizar Mahlaoui, Émilie Catherinot, +16

European Respiratory Journal

Pulmonary CareAdvanced Lung DiseaseImmunodeficienciesDiagnosisPathology +15

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study

Francesca Ferrua, Stefania Galimberti, Virginie Courteille, +62

Journal of Allergy and Clinical Immunology

Child-onset and adolescent-onset acquired thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency: a cohort study of the French national registry for thrombotic microangiopathy

Bérangère S. Joly, Alain Stépanian, Thierry Leblanc, +11

The Lancet Haematology

ThrombopoiesisThrombosisFrench National RegistryPediatric HematologyImmunodeficiencies +8

Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort

Nathalie Aladjidi, Helder Fernandes, Thierry Leblanc, +27

Frontiers in Pediatrics

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

Sarah Ducamp, Caroline Kannengiesser, Mohamed Touati, +18

Human Mutation