FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 342:320-324 February 3, 2000 Number 5 Next

Nedim Hadi, M.D., Antonio Pagliuca, M.D., Mohamed Rela, M.D., Bernard Portmann, M.D., Alison Jones, Ph.D., Paul Veys, M.D., Nigel D. Heaton, M.D., Ghulam J. Mufti, M.D., and Giorgina Mieli-Vergani, Ph.D.

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

	Full Text PDF Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

The hyper-IgM syndrome, a rare form of combined primary immunodeficiency, is characterized by neutropenia and defective B-cell isotype switching, which results in elevated or normal levels of serum IgM and low levels of serum IgG, IgA, and IgE.¹ Clinically, patients with the syndrome have serious pyogenic infections caused by encapsulated bacteria, suggestive of the presence of humoral immunodeficiency. They are also susceptible to infections with intracellular pathogens such as Pneumocystis carinii, Cryptosporidium parvum, and leishmania, because of a possible defect in cellular immunity.^2,3

The inheritance is usually X-linked, but autosomal recessive and autosomal dominant forms have also been documented.⁴ The . . . [Full Text of this Article]

Case Report

Methods

Results

Liver Transplantation

Bone Marrow Transplantation

Discussion

Source Information

From the Departments of Child Health (N.H., G.M.-V.), Haematological Medicine (A.P., G.J.M.), and Transplant Surgery (M.R., N.D.H.) and the Institute of Liver Studies (B.P.), King's College Hospital; and the Host Defense Unit, Hospital for Sick Children (A.J., P.V.) — both in London.

Address reprint requests to Dr. Hadi at the Department of Child Health, King's College Hospital, Denmark Hill, London SE5 9RJ, United Kingdom, or at nedim.hadzic@kcl.ac.uk.

References

This article has been cited by other articles:

• Yong, P F K, Post, F A, Gilmour, K C, Grosse-Kreul, D, King, A, Easterbrook, P, Ibrahim, M A A (2008). Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene. J. Clin. Pathol. 61: 1220-1222 [Abstract] [Full Text]  
• Lim, M. S., Elenitoba-Johnson, K. S.J. (2004). The Molecular Pathology of Primary Immunodeficiencies. J. Mol. Diagn. 6: 59-83 [Full Text]  
• Jacobsohn, D. A., Emerick, K. M., Scholl, P., Melin-Aldana, H., O'Gorman, M., Duerst, R., Kletzel, M. (2004). Nonmyeloablative Hematopoietic Stem Cell Transplant for X-Linked Hyper-Immunoglobulin M Syndrome With Cholangiopathy. Pediatrics 113: e122-127 [Abstract] [Full Text]  
• Gennery, A. R., Khawaja, K., Veys, P., Bredius, R. G. M., Notarangelo, L. D., Mazzolari, E., Fischer, A., Landais, P., Cavazzana-Calvo, M., Friedrich, W., Fasth, A., Wulffraat, N. M., Matthes-Martin, S., Bensoussan, D., Bordigoni, P., Lange, A., Pagliuca, A., Andolina, M., Cant, A. J., Davies, E. G. (2004). Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood 103: 1152-1157 [Abstract] [Full Text]  
• Cooper, M. D., Lanier, L. L., Conley, M. E., Puck, J. M. (2003). Immunodeficiency Disorders. ASH Education Book 2003: 314-330 [Abstract] [Full Text]  
• Arkwright, P. D., Abinun, M., Cant, A. J. (2002). Autoimmunity in human primary immunodeficiency diseases. Blood 99: 2694-2702 [Abstract] [Full Text]  
• Khawaja, K, Gennery, A R, Flood, T J, Abinun, M, Cant, A J (2001). Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. Arch. Dis. Child. 84: 508-511 [Abstract] [Full Text]  
• Matthes-Martin, S., Peters, C., Konigsrainer, A., Fritsch, G., Lion, T., Heitger, A., Kapelari, K., Kronberger, M., Offner, F., Wrba, F., Margreiter, R., Gadner, H. (2000). Successful stem cell transplantation following orthotopic liver transplantation from the same haploidentical family donor in a girl with hemophagocytic lymphohistiocytosis. Blood 96: 3997-3999 [Abstract] [Full Text]  
• Saleem, M A, Arkwright, P D, Davies, E G, Cant, A J, Veys, P A (2000). Clinical course of patients with major histocompatibility complex class II deficiency. Arch. Dis. Child. 83: 356-359 [Abstract] [Full Text]