Abstract: 【Abstract】Objective To explore the clinical features and genotypic characteristics of the X-linked hyper-immunoglobulin M syndrome. Methods On July 16th 2017, the clinical features, laboratory tests, and treatment process of one infant diagnosed as recurrent granulocytopenia in the department of Pediatrics in Shandong Provincial Hospital were analyzed. The next generation sequence (NGS) was used to detect the gene of the infant; the gene mutation of the infant and his patient was confirmed by Sanger sequencing method. Results The infant was a male of 2 years and 8 months old, who was hospitalized because of severe pneumonia at age of 2 years and 2 months and suffered with granulocytopenia recurrently after discharging. Bone marrow puncture showed agranulocytosis. The test results of this hospitalization indicated significant decrease levels of IgG、IgA and IgE and normal level of IgM. Genetic test result showed that there was a hemizygous mutation: c.761C>G (number 761 nucleotide in the coding region was varied from cytosine to guanine) in gene CD40LG exon 5 of the infant, causing the amino acid to change p.T254R (number 254 amino acid was altered from threonine to arginine), which was a missense mutation. The mutation did not belong to polymorphism loci and the frequency of occurrence was extremely low in the population, which was not discovered in the HGMD professional database. Further pedigree analysis was performed that the infant's mother proved to be a heterozygous variation of the specific locus of suspecting as pathogenic variation, which was X-linked recessive inheritance and inherited from his mother. The patient was infused with 7.5 g human immunoglobulin every 1-2 month after the genetic diagnosis. Being followed up for 8 monthsafter discharge, the patient was infused 4 times with occasional common cold and without pneumonia. Conclusion The infants with recurrent granulocytopenia should be given immune function screening assoon as possible. The identifying of primary immunodeficiency diseases should be strengthen. Genetic test is the gold standard for X-linked HIGM diagnosis
商晓红 刘奉琴 孙妍 柳彩虹 王增敏 王倩 胡艳艳 杨建美 李桂梅. X 连锁高IgM 综合征的临床特征及基因诊断[J]. 发育医学电子杂志, 2018, 6(4): 236-241.
SHANG Xiao-hong, LIU Feng-qin, SUN Yan, LIU Cai-hong, WANG Zeng-min, WANG Qian, HU Yan-yan, YANG Jian-mei, LI Gui-mei. Clinical features and gene diagnosis of X-linked hyper-immunoglobulin M syndromes. Journal of Developmental Medicine(Electronic Version), 2018, 6(4): 236-241.
2018, Vol. 6 
