A possible familial lymphoproliferative disorder in two male siblings of children with recurrent wheezing and lung infections since infancy

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• 作者：Shih-Hsiang Chen (1)
  Shao-Hsuan Hsia (2)
  Jainn-Jim Lin (2)
  Kin-Sun Wong (3)
  Chih-Wei Wang (4)
  Lee-Yung Shih (5)
  Wen-I Lee (6)
  
• 关键词：Children ; Familial lymphoproliferative malignancy ; Lymphomatoid granulomatosis ; Recurrent wheezing ; X ; linked
• 刊名：International Journal of Hematology
• 出版年：2014
• 出版时间：October 2014
• 年：2014
• 卷：100
• 期：4
• 页码：407-412
• 全文大小：1,057 KB
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• 作者单位：Shih-Hsiang Chen (1)
  Shao-Hsuan Hsia (2)
  Jainn-Jim Lin (2)
  Kin-Sun Wong (3)
  Chih-Wei Wang (4)
  Lee-Yung Shih (5)
  Wen-I Lee (6)
  
  1. Division of Hematology/Oncology, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, 5 Fu-Shin Street, Kwei-Shan 333, Taoyuan, Taiwan
  2. Division of Critical Care and Emergency Medicine, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
  3. Division of Pulmonology, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
  4. Department of Anatomic Pathology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
  5. Division of Hematology/Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
  6. Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Taoyuan, Taiwan
  
• ISSN：1865-3774

文摘

Malignancies that result in wheezing in infants are very uncommon. Given its rarity in children, the diagnosis is challenging, and in the absence of a high index of suspicion, delayed diagnosis is not uncommon. Here we report two male siblings of children who presented with recurrent wheezing and recurrent lung infections since infancy. Both children showed no laboratory evidence of immunodeficiency. Lymphocytic interstitial pneumonia or hypersensitivity pneumonitis was histologically suspected in lung biopsy specimens from the older brother. He subsequently developed Epstein-Barr virus (EBV)-associated hemophagocytic lymphohistiocytosis and died. Based on the family history, we screened mutations among PRF1, Munc13-4, STX11, SH2D1A, and XIAP genes for the younger brother, but did not identify any mutations. He also underwent lung biopsy, which showed interstitial infiltration of lymphoid cells. In situ hybridization for EBV-encoded RNA showed a positive nuclear signal in the lymphoid cells. The presence of clonal B-cell proliferations was detected by clonally rearranged immunoglobulin studies. Lymphomatoid granulomatosis grade 3 was finally diagnosed. The progression of disease was rapid, and the patient died, despite rituximab therapy. The similar clinical manifestations in two male siblings suggest the possibility that a previously undescribed genetic defect contributed to these familial lymphoproliferative malignancies.