Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia

Atar Lev, Ninette Amariglio, Yael Levy, Zvi Spirer, Yair Anikster, Gideon Rechavi, Benjamin Dekel, Raz Somech*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Schimke immuno-osseous dysplasia (SIOD) is caused by SMARCAL1 deficiency and characterized by defective T-cell immunity. The immunodeficiency and the role of thymic function in SIOD patients are not clearly understood. We performed thymic evaluations by assessing T-cell receptor (TCR) diversity, rearrangement, and excision circles in family members with different disease severity carrying the same bi-allelic mutation and in a heterozygous carrier. The expression of SMARCAL1 mRNA in a normal thymic sample was measured using real-time quantitative polymerase chain reaction. Thymus functions were significantly reduced in SIOD patients, and these findings were highly correlated with the clinical phenotype. Quantification of SMARCAL1 mRNA transcript was 3.86-fold higher than normal values for adult kidneys. Genotype alone apparently does not define phenotype, and analysis of TCR diversity, rearrangement, and thymus output can quantify the extent of T-cell immunodeficiency. High thymic expression of SMARCAL1 mRNA raises the possibility of its importance in thymus maintenance and function.

Original languageEnglish
Pages (from-to)375-381
Number of pages7
JournalClinical Immunology
Issue number3
StatePublished - Dec 2009


  • Immunodeficiency
  • SIOD
  • Schimke
  • Skeletal dysplasia
  • TCR
  • TREC
  • Thymus


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