@article{721e12939547400ba7f9af974e947b12,
title = "Hyper-IgM1 syndrome with interstitial pneumonia and diarrhea caused by coxsackievirus B4 in a 3-month-old infant",
abstract = "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.",
keywords = "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",
author = "Sheng-Chieh Lin and Shyh-Dar Shyur and Yi-Chun Ma and Li-Hsin Huang and Lee, {Wen I.}",
note = "被引用次數：9 Export Date: 7 April 2016 CODEN: ALAIF 通訊地址: Shyur, S.-D.; Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2 Chung-Shan North Road, Taipei 104, Taiwan; 電子郵件： abc1016@ms2.mmh.org.tw 化學物質/CAS: ceftriaxone, 73384-59-5, 74578-69-1; cotrimoxazole, 8064-90-2; immunoglobulin E, 37341-29-0; immunoglobulin G, 97794-27-9; immunoglobulin M, 9007-85-6; tyrosine, 16870-43-2, 55520-40-6, 60-18-4; vancomycin, 1404-90-6, 1404-93-9; Antigens, CD; CD40 Ligand, 147205-72-9; Immunoglobulin M; Immunoglobulins 參考文獻: Kroczek, R.A., Graf, D., Brugnoni, D., Defective expression of CD40 ligand on T cells causes {"}X-linked immunodeficiency with hyper-IgM (HIGM1){"} (1994) Immunol Rev, 138, pp. 39-59; Fuleihan, R.L., Hyper IgM syndrome: The other side of the coin (2001) Curr Opin Pediatr, 13, pp. 528-532; Leone, V., Tommasini, A., Andolina, M., Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome (2002) Bone Marrow Transplant, 30, pp. 49-52; Banatvala, N., Davies, J., Kaniriou, M., Hypogammaglobulinaemia associated with normal or increased IgM (the hyper IgM syndrome): A case series review (1994) Arch Dis Child, 71, pp. 150-152; Halliday, E., Winkelstein, J., Webster, A.D.B., Enteroviral infections in primary immunodeficiency: A survey of morbidity and mortality (2003) J Infect, 46, pp. 1-8; Rosen, F.S., Kevy, S.V., Merier, E., Recurrent bacterial infections and dysgammaglobulinemia: Deficiency of 7S y-globulins in the presence of elevated 19S y-globulins (1961) Pediatrics, 28, pp. 182-195; Winkelstein, J.A., Marino, M.C., Ochs, H., The X-linked hyper-IgM syndrome: Clinical and immunologic features of 79 patients (2003) Medicine, 82, pp. 373-384; Levy, J., Espanol-Boren, T., Thomas, C., Clinical spectrum of X-linked hyper-IgM syndrome (1997) J Pediatr, 131, pp. 47-54; Notarangelo, L.D., Hayward, A.R., X-linked immunodeficiency with hyper-IgM (XHIM) (2000) Clin Exp Immunol, 120, pp. 399-405; Schneider, L.C., X-linked hyper IgM syndrome (2000) Clin Rev Allergy Immunol, 19, pp. 205-215; Yilmaz, G.G., Yilmaz, E., Coskun, M., Cutaneous histoplasmosis in a child with hyper-IgM (1995) Pediatr Dermatol, 12, pp. 235-238; Cunningham, C.K., Bonville, C.A., Ochs, H.D., Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome (1999) J Pediatr, 134, pp. 584-588; McKinney, R.E., Katz, S.L., Wilfert, C.M., Chronic enteroviral meningoencephalitis in agammaglobulinemia patients (1987) Rev Infect Dis, 9, pp. 334-356; Shyur, S.D., Hill, H.R., Immunodeficiency in the 1990s (1991) Pediatr Infect Dis J, 10, pp. 598-611; Sneller, M.C., Common variable immunodeficiency (2001) Am J Med Sci, 321, pp. 42-48; Atkinson, T.P., Smith, C.A., Hsu, Y.M., Leukocyte transfusion-associated granulocyte responses in a patient with x-linked hyper-IgM syndrome (1998) J Clin Immunol, 18, pp. 430-439; Miller, M.L., Algayed, I.A., Yogev, R., Atypical Pneumocystis carinii pneumonia in a child with hyper-IgM syndrome (1998) Pediatr Pathol Lab Med, 18, pp. 71-78; Morag, A., Ogra, P.L., Enterovirus (2000) Nelson Textbook of Pediatrics. 16th Ed., pp. 959-964. , Behrman RE, ed. Philadelphia, PA: WB Saunders Co; Farrington, M., Grosmaire, L.S., Nonoyama, S., CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency (1994) Proc Natl Acad Sci USA, 91, pp. 1099-1103; Wang, W.C., Cordoba, J., Infante, A.J., Conley, M.E., Successful treatment of neutropenia in the hyper-IgM syndrome with granulocyte colony-stimulating factor (1994) Am J Pediatr Hematol Oncol, 16, pp. 160-163; Thomas, C., De Saint Basile, G., Le Deist, F., Brief report: Correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation (1995) N Engl J Med, 333, pp. 426-429; Fagioli, F., Biasin, E., Berger, M., Successful unrelated cord blood transplantation in two children with severe combined immunodeficiency syndrome (2003) Bone Marrow Transplant, 31, pp. 133-136; Knutsen, A.P., Steffen, M., Wassmer, K., Wall, D.A., Umbilical cord blood transplantation in Wiskott Aldrich syndrome (2003) J Pediatr, 142, pp. 519-523",
year = "2005",
language = "English",
volume = "95",
pages = "93--97",
journal = "Annals of Allergy, Asthma and Immunology",
issn = "1081-1206",
publisher = "American College of Allergy, Asthma and Immunology",
number = "1",
}
