Klin Padiatr 2004; 216(1): 24-25
DOI: 10.1055/s-2004-817993
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Failure to Thrive in a 14-Month-Old Boy with Lymphopenia and Eosinophilia

Gedeihstörungen bei einem 14 Monate alten Jungen mit Lymphopenie und EosinophilieC.  Härtel1 , T.  Strunk1 , P.  Bucsky1 , C.  Schultz1
  • 1Department of Pediatrics at University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany
Further Information

Publication History

Publication Date:
28 January 2004 (online)

Abstract

We describe the case of a 14-month-old boy with delayed-onset SCID due to ADA-deficiency which was masqueraded only by failure to thrive. Remarkably, the child had no serious infections and an adequate immune response. However, absolute lymphopenia, eosinophilia and absent thymus on chest x-ray were indicative for immunodeficiency.

References

  • 1 Buckley R H, Schiff R I, Schiff S E, Markert L, Williams L W, Harville T O, Roberts J L, Puck J M. Human severe combined immunodeficiency: Genetic, phenotypic and functional diversity in one hundred eight infants.  J Pediatrics. 1997;  130 378-387
  • 2 Hershfield M S, Mitchell B S. Immunodeficiency diseases caused by Adenosine deaminase deficiency. In: Scriver CR, Beaudet MD, Sly WS, Valle MD (eds) The Metabolic & Molecular Bases of Inherited Disease, 8th edition. New York; Mc Graw-Hill 2001: 2588
  • 3 Muul L M, Tuschong L M, Soenen S L. et al . Persistence and expression of the adenosine deaminase gene for 12 years and immune reaction to gene transfer components: long-term results of the first clinical gene therapy trial.  Blood. 2003;  101 2563-2569
  • 4 Baum C, Dullmann J, Li Z, Fehse B, Meyer J, Williams D A, Kall C von. Side effects of retroviral gene transfer into hematopoietic stem cells.  Blood. 2003;  101 2099-2114
  • 5 Comans-Bitter W M, Groot R de, Beemd R van den, Neijens H J, Hop W CJ, Groeneveld K, Hooijkas H, Dongen J JM van. Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations.  J Pediatrics. 1997;  130 388-393

Christoph Härtel MD 

Department of Pediatrics, University of Lübeck

Ratzeburger Allee 160

D-23538 Lübeck

Germany

Phone: 0451/500-2606

Fax: 0451/500-6064

Email: haertel@paedia.ukl.mu-luebeck.de

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