Hyper-IgM Immunodeficiency Syndrome (Hyper-IgM Syndrome)

A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Also Known As:
Hyper-IgM Syndrome; HIGM2 Syndrome; HIGM3 Syndrome; HIGM5 Syndrome; Hyper-IgM Immunodeficiency Syndrome Type 2; Hyper-IgM Immunodeficiency Syndrome Type 3; Hyper-IgM Immunodeficiency Syndrome Type 5; Hyper-IgM Syndrome 2; Hyper-IgM Syndrome 3; Hyper-IgM Syndrome 5; Immunodeficiency with Hyper-IgM Syndrome; HIGM2 Syndromes; HIGM3 Syndromes; HIGM5 Syndromes; Hyper IgM Immunodeficiency Syndrome; Hyper IgM Immunodeficiency Syndrome Type 2; Hyper IgM Immunodeficiency Syndrome Type 3; Hyper IgM Immunodeficiency Syndrome Type 5; Hyper IgM Immunodeficiency Syndrome, Type 2; Hyper IgM Immunodeficiency Syndrome, Type 3; Hyper IgM Immunodeficiency Syndrome, Type 5; Hyper IgM Syndrome; Hyper IgM Syndrome 2; Hyper IgM Syndrome 3; Hyper IgM Syndrome 5; Hyper-IgM Immunodeficiency Syndromes; Hyper-IgM Syndrome 5s; Hyper-IgM Syndromes; Immunodeficiency Syndrome, Hyper-IgM; Immunodeficiency Syndromes, Hyper-IgM; Immunodeficiency with Hyper IgM Syndrome; Hyper-IgM Immunodeficiency Syndrome, Type 2; Hyper-IgM Immunodeficiency Syndrome, Type 3; Hyper-IgM Immunodeficiency Syndrome, Type 5
Networked: 248 relevant articles (1 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Toxoplasmosis
2. Common Variable Immunodeficiency
3. Chronic Granulomatous Disease
4. Kidney Neoplasms (Kidney Cancer)
5. Infection


1. Aghamohammadi, Asghar: 13 articles (06/2014 - 01/2004)
2. Rezaei, Nima: 13 articles (01/2014 - 01/2004)
3. Durandy, Anne: 10 articles (06/2012 - 10/2003)
4. Nonoyama, Shigeaki: 7 articles (10/2015 - 03/2003)
5. Fischer, Alain: 7 articles (01/2007 - 10/2003)
6. Imai, Kohsuke: 6 articles (10/2015 - 10/2003)
7. Lee, Wen-I: 6 articles (09/2013 - 10/2003)
8. Ochs, Hans D: 6 articles (04/2012 - 04/2002)
9. Moin, Mostafa: 6 articles (07/2007 - 01/2004)
10. Morio, Tomohiro: 5 articles (10/2015 - 03/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyper-IgM Immunodeficiency Syndrome:
1. Immunoglobulins (Immunoglobulin)IBA
2. CD40 Ligand (CD40L)IBA
3. Bruton type agammaglobulinemiaIBA
4. Cytidine DeaminaseIBA
5. Immunoglobulin D (IgD)IBA
6. Proteins (Proteins, Gene)IBA
7. Immunoglobulin M (IgM)IBA
8. Immunoglobulin G (IgG)IBA
9. Immunoglobulin A (IgA)IBA
01/01/1998 - "Total variable immunodeficiency (TVID), selective deficiency of IgA, congenital agammaglobulinemia, hyper-IgM-syndrome were detected in 74, 13, 10 and 3% of patients, respectively. "
10/01/2001 - "Consider hyper-IgM syndrome in a male child with recurrent bacterial or opportunistic infections, neutropenia, hypogammaglobulinaemia (IgG and IgA) and normal T- and B-cell counts. "
08/01/2004 - "Articles related to clinical immunology that were selected include the first report of lymphocyte subsets values from a large cohort of normal children; the description of new genetic defects in primary immunodeficiencies; a description of the complications of gene therapy for X-linked severe combined immunodeficiency; a report of 79 patients with hyper-IgM syndrome; a report of the mechanism of action and complications of intravenous immunoglobulin; a report of new approaches for immunotherapy; and an article on advances in HIV infection and management, including a report of defensins, small molecules with anti-HIV properties. "
03/15/2012 - "A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgM syndrome. "
03/01/1992 - "Seven forms of X-linked (XL) immunodeficiency have been described (XL agammaglobulinemia, XL severe combined immunodeficiency [SCID], Wiskott-Aldrich syndrome, XL chronic granulomatous disease, XL hyper-IgM syndrome with low IgG and IgA, and XL lymphoproliferative syndrome), and properdine deficiency. "
10. Immunoglobulin E (IgE)IBA

Therapies and Procedures

1. Transplants (Transplant)
2. Immunomodulation
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Hematopoietic Stem Cell Transplantation
5. Stem Cell Transplantation