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

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 journal › Article › peer-review

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.

Original language	English
Pages (from-to)	93-97
Number of pages	5
Journal	Annals of Allergy, Asthma and Immunology
Volume	95
Issue number	1
Publication status	Published - 2005
Externally published	Yes

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Cite this

@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： [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",

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",

}

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 -

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

Abstract

Keywords

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