TY - JOUR
T1 - Hyper-IgM1 syndrome with interstitial pneumonia and diarrhea caused by coxsackievirus B4 in a 3-month-old infant
AU - Lin, Sheng-Chieh
AU - Shyur, Shyh-Dar
AU - Ma, Yi-Chun
AU - Huang, Li-Hsin
AU - Lee, Wen I.
N1 - 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: [email protected]
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
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
KW - CD16 antigen
KW - CD19 antigen
KW - CD3 antigen
KW - CD4 antigen
KW - CD40 antigen
KW - CD8 antigen
KW - ceftriaxone
KW - cotrimoxazole
KW - immunoglobulin A
KW - immunoglobulin E
KW - immunoglobulin G
KW - immunoglobulin M
KW - tumor necrosis factor
KW - tyrosine
KW - vancomycin
KW - article
KW - bronchoscopy
KW - case report
KW - clinical feature
KW - Coxsackie virus B4
KW - Cryptosporidium
KW - diarrhea
KW - Enterovirus infection
KW - gene mutation
KW - human
KW - human tissue
KW - hyperimmunoglobulinemia M
KW - immune deficiency
KW - immune status
KW - interstitial pneumonia
KW - male
KW - newborn
KW - open lung biopsy
KW - priority journal
KW - thorax radiography
KW - throat culture
KW - virus culture
KW - virus isolation
KW - Antigens, CD
KW - CD40 Ligand
KW - Diarrhea
KW - Enterovirus B, Human
KW - Enterovirus Infections
KW - Humans
KW - Hypergammaglobulinemia
KW - Immunoglobulin M
KW - Immunoglobulins
KW - Infant
KW - Lung
KW - Lung Diseases, Interstitial
KW - Lymphocytes
KW - Male
KW - Radiography, Thoracic
KW - Syndrome
M3 - Article
SN - 1081-1206
VL - 95
SP - 93
EP - 97
JO - Annals of Allergy, Asthma and Immunology
JF - Annals of Allergy, Asthma and Immunology
IS - 1
ER -