Hyper-IgM syndrome: Report of one case

Yi-Chun Ma, Shyh-Dar Shyur, Li-Hsin Huang, Jiunn-Yi Wu, Sheng-Chieh Lin

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl; IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6%, CD4 10.3%, CD8 2.2%, CD19 30.2%, CD57 1.0% and active T cells 1.1%. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed IgM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48%) of the patient's in vitro activated CD4+ T cells expressed CD40L, compared with 33.54% from a healthy control. The patient's father, mother and sister all had a normal CD40L expression activation patterns (43.52%, 40.78%, 34.11%, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.
Original languageEnglish
Pages (from-to)334-339
Number of pages6
JournalActa Paediatrica Taiwanica
Issue number6
Publication statusPublished - 2004
Externally publishedYes


  • CD40 ligand
  • Hyper-IgM syndrome
  • antibiotic agent
  • cotrimoxazole
  • immunoglobulin
  • immunoglobulin A
  • immunoglobulin E
  • immunoglobulin G
  • immunoglobulin M
  • article
  • case report
  • diagnostic procedure
  • family
  • flow cytometry
  • human
  • hyperimmunoglobulinemia M
  • immune deficiency
  • immunocompetent cell
  • immunoglobulin blood level
  • infant
  • infection prevention
  • male
  • Pneumocystis pneumonia
  • pneumonia
  • recurrent infection
  • T lymphocyte
  • treatment outcome
  • CD4-Positive T-Lymphocytes
  • CD40 Ligand
  • Humans
  • Hypergammaglobulinemia
  • Immunoglobulin M
  • Infant
  • Male
  • Pneumonia


Dive into the research topics of 'Hyper-IgM syndrome: Report of one case'. Together they form a unique fingerprint.

Cite this