Hyper-IgM1 syndrome with interstitial pneumonia and diarrhea caused by coxsackievirus B4 in a 3-month-old infant

Sheng-Chieh Lin, Shyh-Dar Shyur, Yi-Chun Ma, Li-Hsin Huang, Wen I. Lee

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


Background: Hyper-IgM1 syndrome is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand gene. It is characterized by normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE levels. Patients with this syndrome often easily develop infections. During the past decade, it has become clear that enteroviral infections may also occur as a manifestation of hyper-IgM1 syndrome. Objective: To report a case of hyper-IgM1 syndrome in a 3-month-old boy who had interstitial pneumonia and intractable diarrhea. Methods: Chest radiography, bronchoscopy, immune studies, and open lung biopsy were performed. Results: Chest radiography revealed diffuse bilateral infiltrates. Immune studies revealed the following proportions of lymphocyte markers: CD3, 5,976/μL; CD4, 5,015/μL; CD8, 866/μL; CD19, 1,325/μL; CD16 + 56, 935/μL; and active T cells, 225/μL. The IgG level was 190 mg/dL; IgA, 2 mg/dL; IgM, 34 mg/dL; IgE, 1 IU/dL; and CH50, 23.8/mL. CD40L expression was less than 1%, and a Tyr 169 Asn (t526a) mutation in the exon 5 tumor necrosis factor domain of the CD40L gene was found. The patient was treated with intravenous immunoglobulin and had a dramatic improvement in symptoms. Open lung biopsy failed to demonstrate pneumocystis, and there was no evidence of cryptosporidium in the stool. However, coxsackievirus B4 was isolated by viral throat culture. Conclusion: Interstitial pneumonia and diarrhea caused by coxsackievirus B4 may be a complication of hyper-IgM1 syndrome.
Original languageEnglish
Pages (from-to)93-97
Number of pages5
JournalAnnals of Allergy, Asthma and Immunology
Issue number1
Publication statusPublished - 2005
Externally publishedYes


  • CD16 antigen
  • CD19 antigen
  • CD3 antigen
  • CD4 antigen
  • CD40 antigen
  • CD8 antigen
  • ceftriaxone
  • cotrimoxazole
  • immunoglobulin A
  • immunoglobulin E
  • immunoglobulin G
  • immunoglobulin M
  • tumor necrosis factor
  • tyrosine
  • vancomycin
  • article
  • bronchoscopy
  • case report
  • clinical feature
  • Coxsackie virus B4
  • Cryptosporidium
  • diarrhea
  • Enterovirus infection
  • gene mutation
  • human
  • human tissue
  • hyperimmunoglobulinemia M
  • immune deficiency
  • immune status
  • interstitial pneumonia
  • male
  • newborn
  • open lung biopsy
  • priority journal
  • thorax radiography
  • throat culture
  • virus culture
  • virus isolation
  • Antigens, CD
  • CD40 Ligand
  • Diarrhea
  • Enterovirus B, Human
  • Enterovirus Infections
  • Humans
  • Hypergammaglobulinemia
  • Immunoglobulin M
  • Immunoglobulins
  • Infant
  • Lung
  • Lung Diseases, Interstitial
  • Lymphocytes
  • Male
  • Radiography, Thoracic
  • Syndrome


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