Immunodeficiency with hyper-IgM (HIM) - PubMed (original) (raw)
Affiliations
- PMID: 1554497
Review
Immunodeficiency with hyper-IgM (HIM)
L D Notarangelo et al. Immunodefic Rev. 1992.
Abstract
Immunodeficiency with hyper-IgM (HIM) is a rare disorder characterized by recurrent infections associated with low IgG and IgA, and normal to increased IgM serum levels. Both primary and secondary forms of HIM syndrome have been reported. Among primary HIM syndrome, evidence for genetic heterogeneity is provided by the occurrence of the disease as X-linked, autosomal recessive, or autosomal dominant trait. The most common clinical manifestations include upper and lower respiratory tract infections, otitis, diarrhoea, oral ulcers, lymphoid hyperplasia, and autoimmunity. Recurrent neutropaenia is a frequent finding. Immunological abnormalities consist of lack of IgG and IgA secretion, and failure to respond to vaccination. Lymph nodes show absence of germinal centres. Few patients with a concurrent T-cell defect, and clinical expression of combined immune deficiency, have been reported. The gene responsible for the X-linked HIM syndrome (HIGM1) has been tentatively assigned to Xq24-27. However, carrier detection and prenatal diagnosis are not yet possible. Pathogenetic hypotheses include failure of B-cell differentiation, and defective regulation of immunoglobulin isotype switching due to abnormal T-cell-mediated signals. Treatment is mainly based upon regular administration of intravenous immunoglobulins. Steroids may be useful in the treatment of neutropaenia and of severe autoimmune manifestations.
Similar articles
- [Hypogammaglobulinemia G and A with hypergammaglobulinemia M. Apropos of 12 cases].
Benkerrou M, Gougeon ML, Griscelli C, Fischer A. Benkerrou M, et al. Arch Fr Pediatr. 1990 May;47(5):345-9. Arch Fr Pediatr. 1990. PMID: 2369267 French. - The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.
Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME. Winkelstein JA, et al. Medicine (Baltimore). 2003 Nov;82(6):373-84. doi: 10.1097/01.md.0000100046.06009.b0. Medicine (Baltimore). 2003. PMID: 14663287 - CD40 ligand (CD40L) 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 carriers.
Callard RE, Smith SH, Herbert J, Morgan G, Padayachee M, Lederman S, Chess L, Kroczek RA, Fanslow WC, Armitage RJ. Callard RE, et al. J Immunol. 1994 Oct 1;153(7):3295-306. J Immunol. 1994. PMID: 7916370 - Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features.
Lougaris V, Badolato R, Ferrari S, Plebani A. Lougaris V, et al. Immunol Rev. 2005 Feb;203:48-66. doi: 10.1111/j.0105-2896.2005.00229.x. Immunol Rev. 2005. PMID: 15661021 Review. - [Molecular genetics of X-linked primary immunodeficiencies: advances in diagnosis and prevention].
Carbonara A, Brusco A, Carbonara C. Carbonara A, et al. Ann Ital Med Int. 1996 Jul-Sep;11(3):180-6. Ann Ital Med Int. 1996. PMID: 8998263 Review. Italian.
Cited by
- Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.
Drabe CH, Marvig RL, Borgwardt L, Lundgren JD, Maquart HVH, Katzenstein TL, Helleberg M. Drabe CH, et al. Front Immunol. 2020 Sep 11;11:567856. doi: 10.3389/fimmu.2020.567856. eCollection 2020. Front Immunol. 2020. PMID: 33013931 Free PMC article. - X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.
Gallagher J, Adams J, Hintermeyer M, Torgerson TR, Lopez-Guisa J, Ochs HD, Szabo S, Salib M, Verbsky J, Routes J. Gallagher J, et al. J Clin Immunol. 2016 Aug;36(6):564-70. doi: 10.1007/s10875-016-0307-0. Epub 2016 Jun 20. J Clin Immunol. 2016. PMID: 27324886 - Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.
Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A. Ferrari S, et al. Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9. doi: 10.1073/pnas.221456898. Proc Natl Acad Sci U S A. 2001. PMID: 11675497 Free PMC article. - Abnormal CD40 ligand (CD154) expression in human immunodeficiency virus-infected children.
O'Gorman MR, DuChateau B, Paniagua M, Hunt J, Bensen N, Yogev R. O'Gorman MR, et al. Clin Diagn Lab Immunol. 2001 Nov;8(6):1104-9. doi: 10.1128/CDLI.8.6.1104-1109.2001. Clin Diagn Lab Immunol. 2001. PMID: 11687447 Free PMC article. - Hyper IgM syndrome: two mutations distinguish HIM.
Foy TM, Masters SR, Noelle RJ. Foy TM, et al. J Clin Invest. 1994 Oct;94(4):1349-50. doi: 10.1172/JCI117467. J Clin Invest. 1994. PMID: 7523448 Free PMC article. Review. No abstract available.
Publication types
MeSH terms
Substances
LinkOut - more resources
Other Literature Sources
Miscellaneous