Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects Noriko Nakagawa,

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Presentation transcript:

Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects Noriko Nakagawa, MD, Kohsuke Imai, MD, PhD, Hirokazu Kanegane, MD, PhD, Hiroki Sato, MS, Masafumi Yamada, MD, PhD, Kensuke Kondoh, MD, PhD, Satoshi Okada, MD, PhD, Masao Kobayashi, MD, PhD, Kazunaga Agematsu, MD, PhD, Hidetoshi Takada, MD, PhD, Noriko Mitsuiki, MD, Koichi Oshima, MD, Osamu Ohara, PhD, Deepti Suri, MD, Amit Rawat, MD, Surjit Singh, MD, Qiang Pan- Hammarström, MD, PhD, Lennart Hammarström, MD, PhD, Janine Reichenbach, MD, Reinhard Seger, MD, Tadashi Ariga, MD, PhD, Toshiro Hara, MD, PhD, Toshio Miyawaki, MD, PhD, Shigeaki Nonoyama, MD, PhD Journal of Allergy and Clinical Immunology Volume 128, Issue 1, Pages 223-225.e2 (July 2011) DOI: 10.1016/j.jaci.2011.01.052 Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Sensitivity levels of cjKRECs and sjKRECs. Various numbers of purified normal B cells were serially added to whole PB from a patient with XLA (P20) to obtain B-cell–added XLA whole blood. cjKRECs and sjKRECs were measured in 3 to 10 samples of each concentration in triplicate. In all analyses, RNaseP (internal control) was positive (2.3 ± 0.2 × 105 copies/μg DNA). X-axis, B-cell numbers in 1 μL whole blood from a patient with XLA. Y-axis, Percentages of the KREC-positive results in the tests. Journal of Allergy and Clinical Immunology 2011 128, 223-225.e2DOI: (10.1016/j.jaci.2011.01.052) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Copy numbers of sjKRECs measured in neonatal Guthrie cards or dried blood spots obtained from B-cell–deficient patients. On all samples from control, neonatal Guthrie cards (n = 133) were sjKREC-positive (4.8 ± 0.6 × 103 copies/μg DNA). B-cell–deficient patients were negative for sjKRECs in neonatal Guthrie cards (XLA, n = 7; non-XLA, n = 1) and dried blood spots (XLA, n = 23; non-XLA, n = 4). Journal of Allergy and Clinical Immunology 2011 128, 223-225.e2DOI: (10.1016/j.jaci.2011.01.052) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions