Title :

Neurological involvement in childhood evans syndrome

Author(s) :

Pincez, Thomas [Auteur]
Neven, Benedicte [Auteur]
Le Pointe, Hubert Ducou [Auteur]
Varlet, Pascale [Auteur]
Fernandes, Helder [Auteur]
Gareton, Albane [Auteur]
Leverger, Guy [Auteur]
Leblanc, Thierry [Auteur]
Chambost, Herve [Auteur]
Michel, Gerard [Auteur]
Pasquet, Marlene [Auteur]
Millot, Frederic [Auteur]
Hermine, Olivier [Auteur]
Mathian, Alexis [Auteur]
Hully, Marie [Auteur]
ZEPHIR, Helene [Auteur]
Hamidou, Mohamed [Auteur]
Durand, Jean-Marc [Auteur]
Perel, Yves [Auteur]
Landman-Parker, Judith [Auteur]
Rieux-Laucat, Frederic [Auteur]
Aladjidi, Nathalie [Auteur]

Journal title :

Journal of clinical immunology

Abbreviated title :

J. Clin. Immunol.

Publication date :

2019-01-22

ISSN :

1573-2592

Keyword(s) :

neurological disorder
lymphoproliferation
primary immunodeficiency
Evans syndrome
Autoimmune cytopenia
CTLA deficiency

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and ...
Show more >Immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) are associated in the definition of Evans syndrome (ES). The occurrence of neurological involvement in this population is poorly described and suggests an underlying primary immunodeficiency (PID). We aimed to describe the clinical manifestations, evolution, and PID profiles of these patients. OBS'CEREVANCE is a French, nationwide prospective cohort that includes children with chronic ITP, AIHA, and ES. Patients with a neurological involvement were described. Centralized radiological and pathological reviews and genetic analyses were performed. On October 2016, eight patients (7/181 ES, 1/371 AIHA, and 0/615 ITP) were identified, all male, with a median age (range) at cytopenia onset of 11.5 years (1.6-15.8). Neurological symptoms appeared with a median delay of 6 years (2.5-18) after cytopenia and were polymorphic: seizures (n = 4), cranial nerve palsy (n = 2), Brown-Sequard syndrome (n = 2), intracranial pressure (n = 2), vertigo (n = 1), and/or sensory neuropathy (n = 1). Magnetic resonance imaging (MRI) showed inflammatory lesions, confirmed by pathology for five patients with macrophagic or lymphoplasmocytic infiltrates. All patients had other relevant immunopathological manifestations: pulmonary nodules (n = 6), lymphoproliferation (n = 4), abnormal immunophenotype (n = 8), and hypogammaglobulinemia (n = 7). Treatment consisted of steroids that improved symptomatology and MRI. Five patients relapsed and three had an asymptomatic radiological progression. A PID was identified in 3/8 patients: 22q11.2 microdeletion (n = 1) and CTLA deficiency (n = 2). Neurological involvement is a rare and severe late event in the course of childhood ES, which can reveal an underlying PID. Imaging and pathology examination highlight a causative immune dysregulation that may guide targeted therapeutic strategies.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Neuroinflammation & Multiple Sclerosis (NEMESIS)

Submission date :

2021-06-23T13:42:42Z