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Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice

Martínez-Valdez, Libny MD*; Deyà-Martínez, Angela MD, PhD*,†; Giner, María T. MD*; Berrueco, Rubén MD, PhD; Esteve-Solé, Ana MSc*,†; Juan, Manel MD, PhD†,§; Plaza-Martín, Ana M. MD, PhD*,†; Alsina, Laia MD, PhD*,†

Journal of Pediatric Hematology/Oncology: October 2017 - Volume 39 - Issue 7 - p 490–494
doi: 10.1097/MPH.0000000000000880
Original Articles

Background: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID).

Materials and Methods: Review of clinical charts and laboratory results of pediatric patients followed-up in the outpatient clinic of PID with a diagnosis of ES and humoral immunodeficiency.

Results: Three pediatric patients, a boy and 2 girls, presented with corticosteroid-dependent ES. In the diagnostic approach, autoimmune lymphoproliferative syndrome was ruled out, and during follow-up, patients showed laboratory signs of humoral immune deficiency and were diagnosed with CVID. After initiating the recommended treatment for CVID with AC, patients improved without new exacerbations.

Conclusions: These cases highlight the importance of detection of possible PID in the context of ES and the establishment of CVID treatment to control AC.

Departments of *Allergy and Clinical Immunology

Hematology and Oncology, Hospital Sant Joan de Dèu, Institut de Recerca Pediàtrica Hospital Sant Joan de Dèu, Esplugues de Llobregat

§Immunology Department, Hospital Clinic-IDIBAPS, Universitat de Barcelona

Functional Unit of Clinical Immunology SJD-Clinic, Barcelona, Spain

L.M.-V. and A.D.-M. are co-authors.

Supported by the projects PI12/01990 and PI15/01094 to LA, integrated in the Plan Nacional de I+D+I and cofinanced by the ISCIII—Subdirección General de Evaluación y Formento de la Investigación Sanitaria—and the Fondo Europeo de Desarrollo Regional (FEDER).

The authors declare no conflict of interest.

Reprints: Laia Alsina, MD, PhD, Allergy and Clinical Immunology Department, Hospital Sant Joan de Dèu, Institut de Recerca Pediàtrica Hospital Sant Joan de Dèu, Passeig Sant Joan de Dèu 2, Esplugues de Llobregat, Barcelona 08950, Spain (e-mail:

Received December 9, 2015

Accepted April 24, 2017

Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.