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Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase  Yukiko Kasahara, MD, Hideo Kaneko, MD, PhD, Toshiyuki.

Published byFriederike Krüger Modified over 5 years ago

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Presentation on theme: "Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase  Yukiko Kasahara, MD, Hideo Kaneko, MD, PhD, Toshiyuki."— Presentation transcript:

1 Hyper-IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase 
Yukiko Kasahara, MD, Hideo Kaneko, MD, PhD, Toshiyuki Fukao, MD, PhD, Tomoyoshi Terada, MD, PhD, Tsutomu Asano, MD, Kimiko Kasahara, Naomi Kondo, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 112, Issue 4, Pages (October 2003) DOI: /S (03)

2 FIG 1 AClinical course and levels of serum Ig in the patient. With time, the serum IgG level gradually decreased, and the IgM level increased. She did not have severe infections, even without intravenous injection of Ig. B Clinical course of the measles attack at 25 years old. The IgG level for measles increased 2 weeks later. URI, Upper respiratory tract infection. Journal of Allergy and Clinical Immunology  , DOI: ( /S (03) )

3 FIG 2 PCR analysis of expression of AID and β-actin in PMA- and TGF-β–stimulated PBMCs of the patient and control subject. The patient's AID gene expression was upregulated by PMA and TGF-β. C–, Control PBMCs without stimulation; C+, control PBMCs stimulated with PMA and TGF-β; P–, patient's PBMCs without stimulation; P+, patient's PBMCs stimulated with PMA and TGF-β Journal of Allergy and Clinical Immunology  , DOI: ( /S (03) )

4 FIG 3 Sequence analysis of the AID gene (antisense patterns). Profiles of PCR products of cDNA (A and B) of the patient showed 2 patterns: wild-type and mutant. The mutant type (Fig 3, B) had a c568 C-to-T substitution (arrow), resulting in the R190X mutation. The same region of genomic DNA (C) had an N peak consisting of C and T in exon 5 (arrow). No other mutations were detected in the AID gene of the patient. Journal of Allergy and Clinical Immunology  , DOI: ( /S (03) )

5 FIG 4 Detection of cC568T by using the artificial primer and NdeI digestion. As shown in the upper panel, the PCR product was 105 bp long (wild-type), and expected yields were 84- and 21-bp fragments (mutant) after NdeI digestion. P/H, Size marker; P, patient; F, patient's father; M, patient's mother; B, patient's brother. Journal of Allergy and Clinical Immunology  , DOI: ( /S (03) )

6 FIG 5 Expression of the GST-AID fusion protein. The mutant AID protein was 2 kd less than the wild-type AID protein because a carboxy terminus of 9 amino acids was deleted in the mutant AID protein. Both the wild-type and mutant were stably expressed as GST fusion proteins. St, Size marker. Journal of Allergy and Clinical Immunology  , DOI: ( /S (03) )

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