1. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia 
Geraldine Aubert, PhD, Kevin A. Strauss, MD, Peter M. Lansdorp, MD, PhD, Nicholas L. Rider, DO 
Journal of Allergy and Clinical Immunology 
Volume 140, Issue 4, Pages e1 (October 2017)
DOI: /j.jaci
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2. Journal of Allergy and Clinical Immunology 2017 140, 1120-1129
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3. Fig 1
Predicted structure of lncRNA RMRP. Diagram representing a 2-dimensional prediction model of RMRP molecule folding generated with residue 70A highlighted in the inset (diagram generated with Assemble 2, RMRP variants are predicted to affect RNA folding, as well as RNA interactions, and have been shown to affect the known functions of RMRP.20
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4. Fig 2
Growth kinetics of primary PBMCs from patients with CHH. A, Total viable cell counts from primary PBMC cultures from RMRP70A>G/70A>G patients with CHH (black dotted line) and RMRP+/70A>G carriers (gray line). UPN series 2 represents a replication cohort of duplicate measurements for patients with CHH and triplicate measurements for carrier subjects. B, Cumulative population doublings of primary PBMC cultures based on the same growth data as in Fig 2, A, and including control cultures.
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5. Fig 3
Telomere length and telomerase activity of leukocytes from patients with CHH. A, Telomere length measurements of leukocytes from RMRP70A>G/70A>G patients with CHH (solid circles) and RMRP+/70A>G carriers (open circles) compared with percentile distribution derived from 835 healthy subjects. B and C, Measurement of telomerase activity and semiquantification of total extension products, as well as a heat-inactivated control (H) from PBMCs (Fig 3, B), with comparison to negatively selected lymphocyte-enriched (eL) cultures (Fig 3, C).
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6. Fig 4
Molecular investigation of telomere deficiency in patients with CHH. Triplicate measurements of the relative transcript expression for RMRP, TERT, and TERC relative to GAPDH (error bars represent SDs). The RMRP70A>G heterozygous sample was set as a reference (light gray bars). Heterozygous (gray bars) and homozygous (black bars) samples were considered as groups for 2-tailed t test comparisons, with a P value of less than .05 considered statistically significant (**). A Significant result was obtained for RMRP only (P = .0043).
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7. Fig E1
Molecular investigation of telomere deficiency in patients with CHH. TERT immunoprecipitation followed by RT-qPCR quantification of pulled down RNA molecules expressed relative to input (Jurkat control cells for proof-of-principle enrichment; A) or expressed as a ratio relative to input in stimulated cells from RMRP70A>G heterozygous (gray bars) and homozygous (black bars) samples (B).
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