Severe Combined Immunodeficiency Signalized by Eosinophilia and Lymphopenia in Rotavirus Infected Infants

Abstract

Background: Severe combined immunodeficiency (SCID) is a heterogeneous disease consisting of several different subtypes. Most subtypes present during infancy and without treatment, infections usually lead to early death. Diagnosis of SCID can be difficult as new subtypes are expected to be discovered soon. Late diagnosis is associated with a poorer outcome. Infections like rotavirus enteritis cannot be cleared in children with SCID due to impaired immunity. The aim of our study was to identify clues in children with rotavirus enteritis that aid to diagnose SCID early.

Patients and Methods: Total white blood counts in a cohort of SCID patients with persistent rotavirus infection at diagnosis (n = 18) were compared to total white blood counts in matched control patients without SCID but with rotavirus infection.

Results: Relative and absolute lymphopenia and eosinophilia were more common in SCID patients (p<0.005).

Conclusion: In infants with rotavirus infection, a full blood count should be performed: Eosinophilia and/or lymphopenia raise a high suspicion of SCID.

Zusammenfassung

Hintergrund: Der schwere kombinierte Immundefekt (SCID) ist eine heterogene Gruppe von Erkrankungen mit unterschiedlichen Subtypen. Die meisten Subtypen manifestieren sich in der Säuglingszeit und führen ohne Therapie in der Regel zum frühen Tod. Die Diagnose eines SCID kann schwierig sein, da ständig neue Subtypen entdeckt werden. Eine Verzögerung der Diagnose ist mit einer schlechteren Prognose assoziiert. Infektionen wie die Rotavirus-Enteritis können von Kindern mit SCID nicht bewältigt werden. Ziel der Studie war die Identifikation von klinischen Merkmalen, die bei Kindern mit Rotavirus-Enteritis eine frühe Diagnosestellung des schweren kombinierten Immundefektes (SCID) ermöglichen.

Patienten und Methoden: Differentialblutbilder einer Kohorte von Patienten mit SCID und chronischer Rotavirusinfektion bei Diagnose (n = 18) und von gematchten Kontrollpatienten mit Rotavirusinfektion ohne SCID wurden verglichen.

Ergebnisse: Relative und absolute Lymphopenie und Eosinophilie traten bei SCID-Patienten deutlich häufiger auf (p<0.005).

Schlussfolgerung: Bei Säuglingen mit Rotavirusinfektion ist ein Differentialblutbild anzufertigen: Eosinophilie und/oder Lymphopenie sind hoch verdächtig auf das Vorliegen eines SCID.

Key words

severe combined immunodeficiency - persistent rotavirus infection - lymphopenia - eosinophilia

Schlüsselwörter

schwerer kombinierter Immundefekt - chronische Rotavirusinfektion - Lymphopenie - Eosinophilie

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