| Characterization of B Cells of Lymph Nodes and Peripheral Blood in a Patient with Hyper IgM Syndrome |
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Dong Soo Kim1, Kyuong Mi Shin1, Woo Ick Yang2, Jeon-Soo Shin3, Chang Hwa Song4, Eun Kyeong Jo4 |
1Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea
2Department of Pathology, Yonsei University College of Medicine, Seoul, Korea
3Department of Microbiology, Yonsei University College of Medicine, Seoul, Korea
4Department of Microbiology, College of Medicine, Chungnam National University, Daejon, Korea |
| Hyper IgM Syndrome 환자에서 얻은 림프절 및 말초혈액 B세포의 특성 |
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김동수1, 신경미1, 양우익2, 신전수3, 송창화4, 조은경4 |
1연세대학교 의과대학 소아과학교실
2연세대학교 의과대학 병리학교실
3연세대학교 의과대학 미생물학교실
4충남대학교 의과대학 미생물학교실 |
Correspondence:
Dong Soo Kim, Email: dskim6634@yumc.yonsei.yonsei.ac.kr
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| Abstract |
Purpose
: Hyper IgM syndrome(HIGM) is characterized by severe recurrent bacterial infections with decreased serum levels of IgG, IgA, and IgE but elevated IgM levels. Recently, it has been classified into three groups; HIGM1, HIGM2 and a rare form of HIGM. HIGM1 is a X-linked form of HIGM and has now been identified as a T-cell deficiency in which mutations occur in the gene that encodes the CD40 ligand molecule. HIGM2 is an autosomal recessive form of HIGM. Molecular studies have shown that the mutation of HIGM2 is in the gene that encodes activation-induced cytidine deaminase(AID). Recently, another rare form of X-linked HIGM syndrome associated with hypohydrotic ectodermal dysplasia has been identified. We encountered a patient with a varient form of HIGM2. To clarify the cause of this form of HIGM, we evaluated the peripheral B cells of this patient.
Methods
: The lymphocytes of the patient were prepared from peripheral blood. B cells were immortalized with the infection of EBV. Cell cycle analysis was done with the immortalized B cells of the patient. Peripheral mononuclear cells were stained with monoclonal anti-CD40L antibody. Total RNA was extracted from the peripheral mononuclear cells. After RT-PCR, direct sequencing for CD40L gene and HuAID gene were done. Immunostainings of a lymph node for CD3, CD23, CD40, Fas-L, bcl-2, BAX were done.
Results
: The peripheral B cells of this patient showed normal expression of CD40L molecule and normal sequencing of CD40L gene, and also normal sequencing of AID gene. Interestingly, the peripheral B cells of this patient showed a decreased population of G2/mitosis phase in cell cycles which recovered to normal with the stimulation of IL-4.
Conclusion
: We suspect that the cause of increased serum IgM in this patient may be from a decrease of G2/mitosis phase of the peripheral B cells, which may be from the decreased production or secretion of IL-4. Therefore, this may be a new form of HIGM. |
| Key Words:
Hyper IgM Syndrome, CD40L, AID, Cell Cycle |
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