Evans Syndrome and Antibody Deficiency: An Atypical Presentation of Chromosome 22q11.2 Deletion Syndrome

Gloria Colarusso,Chiara Azzari,Fabio Tucci,Tommaso Casini,Elisabetta Lapi,Eleonora Gambineri,Francesca Lippi

doi:10.4081/pr.2010.e13

Gloria Colarusso, Chiara Azzari + Show 5 more

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https://doi.org/10.4081/pr.2010.e13

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Abstract

We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

Highlights

N deletion within the 22q11.2 region.[2]
Abstract ly We report a case of an 8-year-old male n patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in o whom the 22q11.2 deletion syndrome (22q11.2 e DS) was diagnosed
The case is of paru ticular interest because it suggests the need to l research chromosome 22q11.2 deletion in ia patients who present with autoimmune cytopenia and peculiar facial abnormalities, rc which could be an atypical presentation of an e incomplete form of 22q11.2 DS. mm Introduction co Chromosome 22q11.2 deletion syndrome - (22q11.2 DS) is considered the most common n human deletion syndrome with an estimated o incidence of 1:4000 live births.[1]

Summary

Introduction

N deletion within the 22q11.2 region.[2]. The clin - ical expressivity of the syndrome is highly variable comprising more than 100 phenotypes, a slight alteration of the focal frontal subcortical signal, interpreted as a possible outcome of perinatal hypoxic-ischemic insult. Abstract ly We report a case of an 8-year-old male n patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in o whom the 22q11.2 deletion syndrome (22q11.2 e DS) was diagnosed. Serum immunoglobulin levels were normal for his age (IgG 518 mg/dL, IgA 87 mg/dL, IgM 116 mg/dL).

Results

Conclusion