Hyper-IgM syndrome: Report of one case

Acta Paediatrica Taiwanica

Volumn 45, Issue 6, 2004, Pages 334-339

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

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

CD40 ligand; Hyper IgM syndrome

Indexed keywords

ANTIBIOTIC AGENT; CD40 LIGAND; 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;

EID: 17044396380     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Fuleihan RL. Hyper-IgM syndrome. In: Delves PJ, Roitt IM, eds. Encyclopedia of Immunology, 2nd ed. London: Academic Press, 1998; 1166-9.
2. Santadusit S, Visitsunthon N, Ochs HD, Vischyanond P. X-linked hyper-IgM syndrome: a report of the first case in Thailand with confirmed mutation of CD40 ligand gene. Asian Pac J Allergy Immunol 2000; 18:165-8.
3. Buckley RH. Hyperimmunoglobulin M. In: Austen KF, Frank MM, Atkinson JP, Cantor H, eds. Samter's Immunologic disease, 6th ed. Philadelphia: Lippincott Williams & Wilkins, 2001; 320.
4. O'Gorman MR, Zaas D, Paniagua M, Corrochano V, Scholl PR, Pachman LM. Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers. Clin Immunol Immunopathol 1997; 85:172-81.
5. Callard RE, Smith SH, Herbert J, et al. 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. J Immunol 1994; 153:3295-306.
6. Jo EK, Kim HS, Lee MY, et al. X-linked hyper-IgM syndrome associated with Cryptosporidium parvum and Cryptococcus neoformans infections: the first case with molecular diagnosis in Korea. J Korean Med Sci 2002; 17:116-20.
7. Fuleihan RL. Hyper-IgM syndrome: the other side of the coin. Curr Opin Pediatr 2001; 13:528-32.
8. Miller ML, Algayed IA, Yogev R, Chou PM, Scholl PR, Pachman LM. Atypical Pneumocystis carinii pneumonia in a child with hyper-IgM syndrome. Pediatr Pathol Lab Med 1998; 18:71-8.
9. Levy J, Espanol-Boren T, Thomas C, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131:47-54.
10. Wang IJ, Wang AJ, Van DC, Lin SJ, Chiang BL. Hyper-IgM syndrome: a case report. J Microbiol Immunol Infect 2003; 36:215-7.
11. Shyur SD, Hill HR. Recent advances in the genetics of primary immunodeficiency syndrome. J Pediatr 1996; 129:8-24.
12. Stieham ER. Immunoglobulin deficiency with increased IgM (hyper-IgM syndrome). In: Stieham immunologic disorders in infants and children, 4th ed. Philadelphia: WB Saunders, 1996; 311-4.
13. Ramesh N, Geha RS, Notarangelo LD. CD40 ligand and the hyper-IgM syndrome, In: Ochs HD, Smith CIE, Puck JM, eds. Primary immunodeficiency disease: a molecular and genetic approach. New York: Oxford, 1999; 233-45.
14. Inwald DP, Peters MJ, Walshe D, Jones A, Davies EG, Klein NJ. Absence of platelet CD40L identifies patients with X-linked hyper-IgM syndrome. Clin Exp Immunol 2000; 120:499-502.
15. Jayoussi-Assalia R, Etzioni A, Notarangelo LD, et al. Prenatal diagnosis of X-linked hyper-IgM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis. Prenat Diagn 2000; 20:822-3.
16. Kato T, Tsuge I, Inaba J, Kato K, Matsuyama T, Kojima S. Successful bone marrow transplantation in a child with XHIM. Bone Marrow Transplant 1999; 23:1081-3.
17. Scholl PR, O'Gorman MR, Pachman LM, Haut P, Kletzel M. Correction of neutropenia and hypogammaglobulinemia in X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. Bone Marrow Transplant 1998; 22:1215-8.
18. Ostenstad B, Giliani S, Mellbye OJ, Nilsen BR, Abrahamsen T. A boy with X-linked hyper-IgM syndrome and natural killer cell deficiency. Clin Exp Immunol 1997; 107:230-4.
19. Robert L. T-cell immunodeficiency disorders. In: Tristram G, Daniel P, Abba I, John B, eds. Medical immunology, 10th ed. United States: Appleton & Lange, 2001; 317-8.