X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report.
X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report.
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男孩 X 连锁高 IgM 综合征伴嗜酸性粒细胞增多：病例报告
DOI：
10.3892/etm.2015.2261
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发表时间：
2015-04
影响因子：
2.7
通讯作者：
Chen Z
中科院分区：
文献类型：
--
作者：
Guo LI;Chen BO;Xu B;Lu M;Ning B;Chen Z
高IgM综合征（hyper-IgM syndrome，HIGMs）是一组原发性免疫缺陷疾病，其特征是血清IgM水平正常或升高，而血清IgG、伊加和IgE水平低或缺乏。在这里，我们报告一例X-连锁的高血糖症与一个新的CD 40 L基因突变的嗜酸性粒细胞增多症。患者从4个月大开始出现复发性肺炎和急性呼吸窘迫综合征（ARDS）。免疫学评价显示血清IgM水平正常，血清IgG和伊加水平显著降低。对CD 40 L基因的遗传学分析显示，在外显子5的核苷酸位置410（c.410-2A>G）处存在剪接突变，这在以前的文献中从未报道过。在每3至4周定期静脉注射免疫球蛋白（IVIG）替代治疗和随访期间使用甲氧苄啶-磺胺甲恶唑预防感染后，患者的免疫球蛋白水平恢复正常，无肺部感染。在口服小剂量类固醇药物治疗5个月后，嗜酸性粒细胞计数也恢复正常。综上所述，CD 40 L基因突变的X连锁高IgM综合征伴嗜酸性粒细胞增多症可通过IVIG替代疗法和小剂量类固醇药物成功治疗。
The hyper-IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X-linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The patient experienced recurrent pneumonia and acute respiratory distress syndrome (ARDS) from 4 months of age. Immunological evaluation revealed a normal level of serum IgM, with significantly low levels of serum IgG and IgA. Genetic analysis of the CD40L gene revealed a splice mutation in exon 5 at the nucleotide position 410 (c.410-2A>G), which has never been reported previously in the literature. Following treatment with regular intravenous immunoglobulin (IVIG) replacement therapy every 3 to 4 weeks and infection prophylaxis with trimethoprim-sulfamethoxazole during follow-up, the patient’s immunoglobulin level returned to normal with no pulmonary infection. The eosinophil count also returned to normal after a small dose of steroid agent treatment was administered orally for 5 months. In summary, X-linked hyper-IgM syndrome with CD40L gene mutation presenting with eosinophilia may be successfully treated using IVIG replacement therapy and a small dose of steroid agent.
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影响因子：
7.3
作者：
Al-Herz W;Bousfiha A;Casanova JL;Chatila T;Conley ME;Cunningham-Rundles C;Etzioni A;Franco JL;Gaspar HB;Holland SM;Klein C;Nonoyama S;Ochs HD;Oksenhendler E;Picard C;Puck JM;Sullivan K;Tang ML
通讯作者：
Tang ML
亚形核因子-kappaB 必需调节剂突变数据库和重建系统可识别表型和免疫多样性。
影响因子：
14.2
作者：
Hanson, Eric P.;Monaco-Shawver, Linda;Solt, Laura A.;Madge, Lisa A.;Banerjee, Pinaki P.;May, Michael J.;Orange, Jordan S.
通讯作者：
Orange, Jordan S.
影响因子：
6.5
作者：
Davies EG;Thrasher AJ
通讯作者：
Thrasher AJ
影响因子：
9.1
作者：
Cabral-Marques, Otavio;Klaver, Stefanie;Condino-Neto, Antonio
通讯作者：
Condino-Neto, Antonio
影响因子：
1.6
作者：
Winkelstein, JA;Marino, MC;Conley, ME
通讯作者：
Conley, ME