ABSTRACTS â ORAL PRESENTATIONS - AMCA, spol. s r.o.
ABSTRACTS â ORAL PRESENTATIONS - AMCA, spol. s r.o.
ABSTRACTS â ORAL PRESENTATIONS - AMCA, spol. s r.o.
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genetic analysis of RMRP gene based on classical sequencing which revealed that the<br />
girl is a compound heterozygote for mutations affecting the RMRP gene. She inherited<br />
paternal duplication in promoter region causing transcription impairment; on maternal<br />
allele we detected a point mutation at position 35 of the gene. This position is strongly<br />
conserved in the entire class of mammals.<br />
Now, 15 months after HSCT, our patient is alive and well.<br />
Conclusion: We present the youngest patient so far transplanted for cartillage hair<br />
hypoplasia due to severe immunodeficiency. The diagnostic pipeline for primary<br />
immunodeficiencies was extended to TREC/KREC analysis, enabling robust assessment<br />
of the number of newly emerging lymphocytes. Although not leading to definitive<br />
diagnosis in this particular case, exome sequencing seems to be relatively cheap and fast<br />
variant to classical sequencing of individual genes.<br />
Acknowledgements<br />
Supported by the project for conceptual development of research organization 00064203.<br />
E.F. was supported by the L‘Oreal-UNESCO program “For Women in Science” 2013.<br />
References<br />
Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C,<br />
Antonarakis SE, Superti-Furga A, Reymond A: Evolutionary comparison provides evidence<br />
for pathogenicity of RMRP mutations. PLoS Genet. 2005 Oct;1(4):e47.<br />
Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W,<br />
Wulfraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M,Bredius RG, Notarangelo<br />
LD, Mazzolari E, Neven B, Güngör T; Inborn Error Working Party of the European Bone<br />
Marrow Transplantation (EBMT) group: Clinical and immunologic outcome of patients<br />
with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood. 2010<br />
Jul 8;116(1):27-35.<br />
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A: Type and level of RMRP functional<br />
impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia<br />
spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29.<br />
P60. THE SPECIFICITY OF CYTOMETRIC DETECTION OF HLA-B27 IS COMPARABLE TO<br />
MICROCYTOTOXIC TEST<br />
Olga Kryštůfková, Klára Prajzlerová, Hana Hulejová, Ivana Půtová<br />
Department of Clinical Immunology of the Institute of Rheumatology, Prague, Czech<br />
Republic and Dept. of Rheumatology, 1 st Faculty of Medicine, Charles University,<br />
Prague, Czech Republic, krys@revma.cz<br />
A strong association between HLA-B27 and ankylosing spondylitis or other diseases<br />
from a group of axial spondyloarthritis (SpA) has been demonstrated. HLAB-27 positivity<br />
has been included into SpondyloArthritis international Society classification criteria<br />
for axial SpA (Rudwaleit, 2009). HLA-typing performed with the microcytotoxic tests<br />
is time consuming and expensive if used for HLA-B27 screening, therefore alternative<br />
flow cytometry method was developed (Pei, 1993). HLA-B27 belongs to the HLA-B7<br />
Analytical Cytometry VII 159
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