Pediatr. praxi. 2011;12(6):416-418

Atypical manifestation of severe combined immunodeficiency

MUDr.Petr Smíšek, MUDr.Aleš Janda, MSc., Ph.D., MUDr.Ester Mejstříková, Ph.D., MUDr.Petra Keslová, MUDr.Martina Suková, prof.MUDr.Petr Sedláček, CSc., prof.MUDr.Jan Starý, DrSc.
Klinika dětské hematologie a onkologie FN Motol, Praha

We report on two girls with severe combined immunodeficiency (SCID) in whom the disease manifested with severe skin affliction and

less frequent symptoms – thrombocytopenia and leucocytosis.

Keywords: severe combined immunodeficiency, hematopoietic stem cell transplantation, infection, exanthema, thrombocytopenia

Published: December 10, 2011  Show citation

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Smíšek P, Janda A, Mejstříková E, Keslová P, Suková M, Sedláček P, Starý J. Atypical manifestation of severe combined immunodeficiency. Pediatr. praxi. 2011;12(6):416-418.
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    References

    1. Formánková R, Bartůňková J, Šedivá A, et al. Problematika včasného stanovení diagnózy těžkého kombinovaného imunodeficitu. Čes-slov. Pediat 2007; 62(1): 5-15.
    2. Cooper MD, Lanier LL, Conley ME, et al. Immunodeficiency Disorders. Hematology Am Soc Hematol Educ Program 2003: 314-330. Go to original source... Go to PubMed...
    3. Freiberger T. Molekulární genetika primárních poruch imunity. Alergie 2004; 6(4): 23-33.
    4. Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: Inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2008; 122(6): 1082-1086. Go to original source... Go to PubMed...
    5. Notarangelo L. Primary immunodeficiencies presenting with cytopenias. Hematology Am Soc Hematol Educ Program 2009: 139-143. Go to original source... Go to PubMed...

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