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Title of Journal: Eur J Pediatr

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Abbravation: European Journal of Pediatrics

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Springer Berlin Heidelberg

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DOI

10.1007/bf02424744

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1432-1076

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Autoimmune pancytopenia in a child with DiGeorge

Authors: Bénédicte Bruno Catherine Barbier Anne Lambilliotte Christian Rey Dominique Turck
Publish Date: 2002/06/13
Volume: 161, Issue: 7, Pages: 390-392
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Abstract

We report on the development of autoimmune pancytopenia in a child with DiGeorge syndrome carrying the 22q11 microdeletion She had congenital heart disease dysmorphic facies thymic hypoplasia immunodeficiency velopharyngeal insufficiency scoliosis and a hearing deficit She had a low Tcell count with a normal CD4/CD8 ratio IgA deficiency and a normal lymphoblastic response to mitogens She has presented with pancytopenia since 10 years of age leucocytes 3300/mm3 haemoglobin 107 g/l platelets 80000/mm3 Plateletassociated antibodies antineutrophil antibodies and Coombs positive red cells were present At 14 years of age she presented with a severe episode of haemolysis with pancytopenia Steroids were effective in treating the pancytopenia at a dose of 2 mg/kg per day for 6 weeks Since 15 years of age she has had episodes of acrocyanosis At 16 years of age she still had mild pancytopenia without any treatment Conclusion the clinical spectrum of the 22q11 microdeletion syndrome is very broad This case suggests that autoimmune disease such as pancytopenia is part of the 22q11 microdeletion syndrome

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