Hyper-IgM syndrome: Report of one case

Yi-Chun Ma, Shyh-Dar Shyur, Li-Hsin Huang, Jiunn-Yi Wu, Sheng-Chieh Lin

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl; IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6%, CD4 10.3%, CD8 2.2%, CD19 30.2%, CD57 1.0% and active T cells 1.1%. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed IgM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48%) of the patient's in vitro activated CD4+ T cells expressed CD40L, compared with 33.54% from a healthy control. The patient's father, mother and sister all had a normal CD40L expression activation patterns (43.52%, 40.78%, 34.11%, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.
Original languageEnglish
Pages (from-to)334-339
Number of pages6
JournalActa Paediatrica Taiwanica
Volume45
Issue number6
Publication statusPublished - 2004
Externally publishedYes

Fingerprint

Hyper-IgM Immunodeficiency Syndrome
CD40 Ligand
Immunoglobulin M
Immunoglobulin A
Immunoglobulin E
Immunoglobulin G
Intravenous Immunoglobulins
Pneumonia
T-Lymphocytes
Pneumocystis Pneumonia
Sulfamethoxazole Drug Combination Trimethoprim
Infection
Fathers
Siblings
Flow Cytometry
Reference Values
Mothers
Anti-Bacterial Agents
Serum

Keywords

  • CD40 ligand
  • Hyper-IgM syndrome
  • antibiotic agent
  • cotrimoxazole
  • immunoglobulin
  • immunoglobulin A
  • immunoglobulin E
  • immunoglobulin G
  • immunoglobulin M
  • article
  • case report
  • diagnostic procedure
  • family
  • flow cytometry
  • human
  • hyperimmunoglobulinemia M
  • immune deficiency
  • immunocompetent cell
  • immunoglobulin blood level
  • infant
  • infection prevention
  • male
  • Pneumocystis pneumonia
  • pneumonia
  • recurrent infection
  • T lymphocyte
  • treatment outcome
  • CD4-Positive T-Lymphocytes
  • CD40 Ligand
  • Humans
  • Hypergammaglobulinemia
  • Immunoglobulin M
  • Infant
  • Male
  • Pneumonia

Cite this

Ma, Y-C., Shyur, S-D., Huang, L-H., Wu, J-Y., & Lin, S-C. (2004). Hyper-IgM syndrome: Report of one case. Acta Paediatrica Taiwanica, 45(6), 334-339.

Hyper-IgM syndrome: Report of one case. / Ma, Yi-Chun; Shyur, Shyh-Dar; Huang, Li-Hsin; Wu, Jiunn-Yi; Lin, Sheng-Chieh.

In: Acta Paediatrica Taiwanica, Vol. 45, No. 6, 2004, p. 334-339.

Research output: Contribution to journalArticle

Ma, Y-C, Shyur, S-D, Huang, L-H, Wu, J-Y & Lin, S-C 2004, 'Hyper-IgM syndrome: Report of one case', Acta Paediatrica Taiwanica, vol. 45, no. 6, pp. 334-339.
Ma Y-C, Shyur S-D, Huang L-H, Wu J-Y, Lin S-C. Hyper-IgM syndrome: Report of one case. Acta Paediatrica Taiwanica. 2004;45(6):334-339.
Ma, Yi-Chun ; Shyur, Shyh-Dar ; Huang, Li-Hsin ; Wu, Jiunn-Yi ; Lin, Sheng-Chieh. / Hyper-IgM syndrome: Report of one case. In: Acta Paediatrica Taiwanica. 2004 ; Vol. 45, No. 6. pp. 334-339.
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abstract = "The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl; IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6{\%}, CD4 10.3{\%}, CD8 2.2{\%}, CD19 30.2{\%}, CD57 1.0{\%} and active T cells 1.1{\%}. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed IgM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48{\%}) of the patient's in vitro activated CD4+ T cells expressed CD40L, compared with 33.54{\%} from a healthy control. The patient's father, mother and sister all had a normal CD40L expression activation patterns (43.52{\%}, 40.78{\%}, 34.11{\%}, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.",
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author = "Yi-Chun Ma and Shyh-Dar Shyur and Li-Hsin Huang and Jiunn-Yi Wu and Sheng-Chieh Lin",
note = "被引用次數:3 Export Date: 7 April 2016 CODEN: TEYZF 通訊地址: Shyur, S.-D.; Department of Pediatrics, Mackay Memorial Hospital, Chung-Shan North Road, Taipei 104, Taiwan; 電子郵件: abc1016@ms2.mmh.org.tw 化學物質/CAS: CD40 ligand, 226713-27-5; cotrimoxazole, 8064-90-2; immunoglobulin E, 37341-29-0; immunoglobulin G, 97794-27-9; immunoglobulin M, 9007-85-6; immunoglobulin, 9007-83-4; CD40 Ligand, 147205-72-9; Immunoglobulin M 參考文獻: Fuleihan, R.L., Hyper-IgM syndrome (1998) Encyclopedia of Immunology, 2nd Ed., pp. 1166-1169. , Delves PJ, Roitt IM, eds. London: Academic Press; Santadusit, S., Visitsunthon, N., Ochs, H.D., Vischyanond, P., X-linked hyper-IgM syndrome: A report of the first case in Thailand with confirmed mutation of CD40 ligand gene (2000) Asian Pac J Allergy Immunol, 18, pp. 165-168; Buckley, R.H., Hyperimmunoglobulin M (2001) Samter's Immunologic Disease, 6th Ed., p. 320. , Austen KF, Frank MM, Atkinson JP, Cantor H, eds. Philadelphia: Lippincott Williams & Wilkins; O'Gorman, M.R., Zaas, D., Paniagua, M., Corrochano, V., Scholl, P.R., Pachman, L.M., Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers (1997) Clin Immunol Immunopathol, 85, pp. 172-181; Callard, R.E., Smith, S.H., Herbert, J., CD40 ligand expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive and non-X-linked forms of the disease, and obligate carrier (1994) J Immunol, 153, pp. 3295-3306; Jo, E.K., Kim, H.S., Lee, M.Y., X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: The first case with molecular diagnosis in Korea (2002) J Korean Med Sci, 17, pp. 116-120; Fuleihan, R.L., Hyper-IgM syndrome: The other side of the coin (2001) Curr Opin Pediatr, 13, pp. 528-532; Miller, M.L., Algayed, I.A., Yogev, R., Chou, P.M., Scholl, P.R., Pachman, L.M., Atypical Pneumocystis carinii pneumonia in a child with hyper-IgM syndrome (1998) Pediatr Pathol Lab Med, 18, pp. 71-78; Levy, J., Espanol-Boren, T., Thomas, C., Clinical spectrum of X-linked hyper-IgM syndrome (1997) J Pediatr, 131, pp. 47-54; Wang, I.J., Wang, A.J., Van, D.C., Lin, S.J., Chiang, B.L., Hyper-IgM syndrome: A case report (2003) J Microbiol Immunol Infect, 36, pp. 215-217; Shyur, S.D., Hill, H.R., Recent advances in the genetics of primary immunodeficiency syndrome (1996) J Pediatr, 129, pp. 8-24; Stieham, E.R., Immunoglobulin deficiency with increased IgM (hyper-IgM syndrome) (1996) Stieham Immunologic Disorders in Infants and Children, 4th Ed., pp. 311-314. , Philadelphia: WB Saunders; Ramesh, N., Geha, R.S., Notarangelo, L.D., CD40 ligand and the hyper-IgM syndrome (1999) Primary Immunodeficiency Disease: A Molecular and Genetic Approach, pp. 233-245. , Ochs HD, Smith CIE, Puck JM, eds. New York: Oxford; Inwald, D.P., Peters, M.J., Walshe, D., Jones, A., Davies, E.G., Klein, N.J., Absence of platelet CD40L identifies patients with X-linked hyper-IgM syndrome (2000) Clin Exp Immunol, 120, pp. 499-502; Jayoussi-Assalia, R., Etzioni, A., Notarangelo, L.D., Prenatal diagnosis of X-linked hyper-IgM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis (2000) Prenat Diagn, 20, pp. 822-823; Kato, T., Tsuge, I., Inaba, J., Kato, K., Matsuyama, T., Kojima, S., Successful bone marrow transplantation in a child with XHIM (1999) Bone Marrow Transplant, 23, pp. 1081-1083; Scholl, P.R., O'Gorman, M.R., Pachman, L.M., Haut, P., Kletzel, M., Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation (1998) Bone Marrow Transplant, 22, pp. 1215-1218; Ostenstad, B., Giliani, S., Mellbye, O.J., Nilsen, B.R., Abrahamsen, T., A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency (1997) Clin Exp Immunol, 107, pp. 230-234; Robert, L., T-cell immunodeficiency disorders (2001) Medical Immunology, 10th Ed., pp. 317-318. , Tristram G, Daniel P, Abba I, John B, eds. United States: Appleton & Lange",
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language = "English",
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pages = "334--339",
journal = "Pediatrics and Neonatology",
issn = "1875-9572",
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TY - JOUR

T1 - Hyper-IgM syndrome: Report of one case

AU - Ma, Yi-Chun

AU - Shyur, Shyh-Dar

AU - Huang, Li-Hsin

AU - Wu, Jiunn-Yi

AU - Lin, Sheng-Chieh

N1 - 被引用次數:3 Export Date: 7 April 2016 CODEN: TEYZF 通訊地址: Shyur, S.-D.; Department of Pediatrics, Mackay Memorial Hospital, Chung-Shan North Road, Taipei 104, Taiwan; 電子郵件: abc1016@ms2.mmh.org.tw 化學物質/CAS: CD40 ligand, 226713-27-5; cotrimoxazole, 8064-90-2; immunoglobulin E, 37341-29-0; immunoglobulin G, 97794-27-9; immunoglobulin M, 9007-85-6; immunoglobulin, 9007-83-4; CD40 Ligand, 147205-72-9; Immunoglobulin M 參考文獻: Fuleihan, R.L., Hyper-IgM syndrome (1998) Encyclopedia of Immunology, 2nd Ed., pp. 1166-1169. , Delves PJ, Roitt IM, eds. London: Academic Press; Santadusit, S., Visitsunthon, N., Ochs, H.D., Vischyanond, P., X-linked hyper-IgM syndrome: A report of the first case in Thailand with confirmed mutation of CD40 ligand gene (2000) Asian Pac J Allergy Immunol, 18, pp. 165-168; Buckley, R.H., Hyperimmunoglobulin M (2001) Samter's Immunologic Disease, 6th Ed., p. 320. , Austen KF, Frank MM, Atkinson JP, Cantor H, eds. Philadelphia: Lippincott Williams & Wilkins; O'Gorman, M.R., Zaas, D., Paniagua, M., Corrochano, V., Scholl, P.R., Pachman, L.M., Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers (1997) Clin Immunol Immunopathol, 85, pp. 172-181; Callard, R.E., Smith, S.H., Herbert, J., CD40 ligand expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive and non-X-linked forms of the disease, and obligate carrier (1994) J Immunol, 153, pp. 3295-3306; Jo, E.K., Kim, H.S., Lee, M.Y., X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: The first case with molecular diagnosis in Korea (2002) J Korean Med Sci, 17, pp. 116-120; Fuleihan, R.L., Hyper-IgM syndrome: The other side of the coin (2001) Curr Opin Pediatr, 13, pp. 528-532; Miller, M.L., Algayed, I.A., Yogev, R., Chou, P.M., Scholl, P.R., Pachman, L.M., Atypical Pneumocystis carinii pneumonia in a child with hyper-IgM syndrome (1998) Pediatr Pathol Lab Med, 18, pp. 71-78; Levy, J., Espanol-Boren, T., Thomas, C., Clinical spectrum of X-linked hyper-IgM syndrome (1997) J Pediatr, 131, pp. 47-54; Wang, I.J., Wang, A.J., Van, D.C., Lin, S.J., Chiang, B.L., Hyper-IgM syndrome: A case report (2003) J Microbiol Immunol Infect, 36, pp. 215-217; Shyur, S.D., Hill, H.R., Recent advances in the genetics of primary immunodeficiency syndrome (1996) J Pediatr, 129, pp. 8-24; Stieham, E.R., Immunoglobulin deficiency with increased IgM (hyper-IgM syndrome) (1996) Stieham Immunologic Disorders in Infants and Children, 4th Ed., pp. 311-314. , Philadelphia: WB Saunders; Ramesh, N., Geha, R.S., Notarangelo, L.D., CD40 ligand and the hyper-IgM syndrome (1999) Primary Immunodeficiency Disease: A Molecular and Genetic Approach, pp. 233-245. , Ochs HD, Smith CIE, Puck JM, eds. New York: Oxford; Inwald, D.P., Peters, M.J., Walshe, D., Jones, A., Davies, E.G., Klein, N.J., Absence of platelet CD40L identifies patients with X-linked hyper-IgM syndrome (2000) Clin Exp Immunol, 120, pp. 499-502; Jayoussi-Assalia, R., Etzioni, A., Notarangelo, L.D., Prenatal diagnosis of X-linked hyper-IgM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis (2000) Prenat Diagn, 20, pp. 822-823; Kato, T., Tsuge, I., Inaba, J., Kato, K., Matsuyama, T., Kojima, S., Successful bone marrow transplantation in a child with XHIM (1999) Bone Marrow Transplant, 23, pp. 1081-1083; Scholl, P.R., O'Gorman, M.R., Pachman, L.M., Haut, P., Kletzel, M., Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation (1998) Bone Marrow Transplant, 22, pp. 1215-1218; Ostenstad, B., Giliani, S., Mellbye, O.J., Nilsen, B.R., Abrahamsen, T., A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency (1997) Clin Exp Immunol, 107, pp. 230-234; Robert, L., T-cell immunodeficiency disorders (2001) Medical Immunology, 10th Ed., pp. 317-318. , Tristram G, Daniel P, Abba I, John B, eds. United States: Appleton & Lange

PY - 2004

Y1 - 2004

N2 - The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl; IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6%, CD4 10.3%, CD8 2.2%, CD19 30.2%, CD57 1.0% and active T cells 1.1%. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed IgM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48%) of the patient's in vitro activated CD4+ T cells expressed CD40L, compared with 33.54% from a healthy control. The patient's father, mother and sister all had a normal CD40L expression activation patterns (43.52%, 40.78%, 34.11%, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.

AB - The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl; IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6%, CD4 10.3%, CD8 2.2%, CD19 30.2%, CD57 1.0% and active T cells 1.1%. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed IgM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48%) of the patient's in vitro activated CD4+ T cells expressed CD40L, compared with 33.54% from a healthy control. The patient's father, mother and sister all had a normal CD40L expression activation patterns (43.52%, 40.78%, 34.11%, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.

KW - CD40 ligand

KW - Hyper-IgM syndrome

KW - antibiotic agent

KW - cotrimoxazole

KW - immunoglobulin

KW - immunoglobulin A

KW - immunoglobulin E

KW - immunoglobulin G

KW - immunoglobulin M

KW - article

KW - case report

KW - diagnostic procedure

KW - family

KW - flow cytometry

KW - human

KW - hyperimmunoglobulinemia M

KW - immune deficiency

KW - immunocompetent cell

KW - immunoglobulin blood level

KW - infant

KW - infection prevention

KW - male

KW - Pneumocystis pneumonia

KW - pneumonia

KW - recurrent infection

KW - T lymphocyte

KW - treatment outcome

KW - CD4-Positive T-Lymphocytes

KW - CD40 Ligand

KW - Humans

KW - Hypergammaglobulinemia

KW - Immunoglobulin M

KW - Infant

KW - Male

KW - Pneumonia

M3 - Article

VL - 45

SP - 334

EP - 339

JO - Pediatrics and Neonatology

JF - Pediatrics and Neonatology

SN - 1875-9572

IS - 6

ER -