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Hyper-IgM Immunodeficiency Syndrome (Hyper-IgM Syndrome)

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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

Experts

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 03/01/2008 - "Immunoglobulin class switch recombination deficiencies (Ig CSR deficiencies) or Hyper IgM syndromes (HIGM) are a group of primary immunodeficiency diseases, characterized by defective CD40 signaling of B cells, resulting in reduced CSR and somatic hypermutation. " 02/01/2005 - "The delineation of hyper-IgM syndromes made it possible to better define the mechanisms underlying the two major events of antibody maturation in humans, CSR and introduction of somatic hypermutation (SHM) in the variable region of immunoglobulins. " 01/01/2004 - "Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes)." 10/01/2001 - "First-line therapeutic options for hyper-IgM syndrome include regular intravenous immunoglobulin and prophylactic trimethoprimsulphamethoxazole." 03/01/2001 - "Past medical history included immunoglobulin replacement for hyper-IgM syndrome for the previous eight years. "
2.	CD40 Ligand (CD40L)IBA 06/15/1995 - "Using immunohistochemistry, the present study analyzes the cell microenvironment of lymphoid tissues in two cases of X-linked hyper-IgM syndrome, a congenital immunodeficiency caused by mutations of the CD40L gene, and which represents a unique model to dissect the functional and morphologic consequences of disrupted CD40/CD40L interactions. " 10/01/1994 - "Recent studies show that most patients with X-linked hyper IgM syndrome have defects in the gene for CD40 ligand. " 05/01/2015 - "A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child." 09/01/2014 - "X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. " 09/01/2014 - "A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome."
3.	Bruton type agammaglobulinemiaIBA 11/01/2007 - "This comprehensive approach revealed that, in Taiwan, in some patients mild forms of X-linked agammaglobulinemia and hyper-IgM syndrome caused the CVID phenotype. " 06/01/1999 - "These observations will be discussed, with reference to a recent classification of CVID distinguishing four different clinical entities: i) CVID presenting with clinical and immunological features of X-linked agammaglobulinemia; ii) CVID presenting with clinical and immunological features of X-linked hyper-IgM syndrome; iii) CVID associated with systemic granulomatous disease; and iiii) CVID associated with autoimmune manifestations." 04/01/2015 - "In this study, we analyzed gene mutations in four X-linked PID pedigrees, which include one X- linked agammaglobulinemia (XLA) pedigree, one X-linked chronic granulomatous disease (XCGD) pedigree, and two X-linked Hyper IgM syndrome (XHIGM) pedigrees. " 12/01/2011 - "In this study, 33 patients with PADs (21 common variable immunodeficiency, 8 X-linked agammaglobulinemia and 4 hyper IgM syndrome) and 66 controls were examined; the number of decayed, missed and filled teeth (DMFT) were investigated. " 07/01/2005 - "Data of 19 X-linked agammaglobulinemia (XLA), 7 hyper-IgM syndrome (HIM) and 20 common variable immunodeficiency (CVID) patients were analyzed. "
4.	Cytidine DeaminaseIBA 12/01/2000 - "Recent studies have shown that mutations in a newly described RNA editing enzyme, activation-induced cytidine deaminase (AID), can cause an autosomal recessive form of hyper IgM syndrome. " 11/01/2014 - "A novel mouse model for the hyper-IgM syndrome: a spontaneous activation-induced cytidine deaminase mutation leading to complete loss of Ig class switching and reduced somatic hypermutation." 09/01/2009 - "Activation-induced cytidine deaminase expression and activity in the absence of germinal centers: insights into hyper-IgM syndrome." 12/01/2004 - "Mutations in activation-induced cytidine deaminase can cause an autosomal recessive form of hyper-IgM syndrome. " 12/01/2004 - "A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome."
5.	Immunoglobulin D (IgD)IBA 08/15/1998 - "The present study analyzed peripheral blood B cell populations separated by IgD and CD27 expression in six males with X-linked hyper-IgM syndrome (XHIM). " 08/15/1998 - "Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome." 09/01/2009 - "Nonetheless, despite their inability to express CD154 and initiate GC responses, patients with type 1 hyper-IgM syndrome (HIGM1) support populations of IgM(+)IgD(+)CD27(+) B cells that express mutated Ig genes. " 04/01/2002 - "The observation of defective memory B cells with abnormal cell marker expression and function demonstrates that naive CVID B cells including those expressing IgD(+) CD27(+), in analogy to cord blood and hyper-IgM syndrome B cells, may be responsible for their failure to differentiate into plasma cells and to produce high-affinity antibodies of different isotypes." 09/01/2005 - "We have analyzed EBV infection in nine cases of X-linked hyper-immunoglobulin M (hyper-IgM) syndrome who, due to a mutation in CD40 ligand gene, do not have a classical, class-switched memory B-cell population (IgD(-) CD27(+)). "
6.	Proteins (Proteins, Gene)IBA 07/01/2006 - "Novel findings are awaited from the study of the yet genetically undefined hyper-IgM syndromes, leading to the identification of activation-induced cytidine deaminase cofactors and proteins involved in class switch recombination-induced DNA repair. "
7.	Immunoglobulin M (IgM)IBA 08/01/2013 - "Mutations in the AID gene (AICDA) have been found in patients with autosomal recessive Hyper-IgM (HIGM) syndrome type 2. Here, two 9- and 14-year-old Brazilian sisters, from a consanguineous family, were diagnosed with HIGM2 syndrome. " 05/01/2012 - "However, the relationships between specific genes and hyper-IgM are now very well defined, as it has been documented in primary hyper IgM syndromes. " 12/01/2010 - "Despite the decreased serum IgM level, an X-linked hyper-IgM syndrome (X-HIGM) was considered. " 10/01/2001 - "In X-linked hyper-IgM syndrome: - the serum IgM concentration is normal in about 50% of cases. " 06/01/2000 - "Analysis of the V(H)DJ(H) repertoire of peripheral blood IgM(+) B cells from a patient with X-linked hyper-IgM syndrome (X-HIgM) was undertaken to determine whether the distribution of V(H) families in the productive repertoire might be regulated by in vivo CD40-CD154 interactions. "
8.	Immunoglobulin G (IgG)IBA 06/01/2014 - "Patients with XLA, CVID, and hyper-IgM syndrome without complications had higher trough and initial IgG levels, and shorter delays in diagnosis. " 11/01/2004 - "Biased immunoglobulin G (IgG) subclass production in a case of hyper-IgM syndrome." 07/20/2007 - "The non-responder patients included 5 cases with common variable immunodeficiency, two cases with hyper IgM syndrome, and one case with IgG subclass deficiency. " 01/01/2002 - "Differential diagnosis in the paediatric age must consider mainly other PIDs: transient hypogammaglobulinaemia of infancy, X chromosome-linked agammaglobulinaemia (XLA), X chromosome-linked hyper IgM syndrome (X-HIM), IgG subclass deficiency and IgA deficiency (IgAD). " 10/01/1995 - "We tested for infection with hepatitis C virus (HCV) in 58 patients affected by humoral immunodeficiencies: 43 common variable immunodeficiency (CVI), two hyper IgM syndrome (HIM), two IgG subclass deficiency, four ataxia-telangiectasia (AT), and seven X-linked agammaglobulinaemia (XLA). "
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 10/01/1994 - "In comparison with B cells from controls or patients with hyper IgM syndrome and mutant CD40 ligand, B cells from the patients with hyper IgM syndrome and normal CD40 ligand were defective in their ability to secrete IgE (P < 0.02) or express activation markers, CD25 and CD23 (P < 0.02) in response to stimulation with anti-CD40. " 12/01/2011 - "Patients with severe forms of primary immunodeficiency diseases (PIDs) have more profound immune defects involving this impaired circuit in patients with severe combined immunodeficiencies (SCID) including complete DiGeorge syndrome, X-linked hyper IgM syndrome (HIGM) (CD40L mutation), CD40 deficiency, immunodeficiency with or without anhidrotic ectodermal dysplasia (NEMO and IKBA mutations), chronic granulomatous disease (CGD) and hyper IgE recurrent infection syndromes (HIES). " 01/01/2008 - "Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to IgG and IgA. " 02/01/2015 - "Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. " 06/01/2014 - "Hyper IgM syndrome is a primary immunodeficiency disorder characterized by normal or raised levels of immunoglobulin (Ig) M with low or absent IgG, IgA, and IgE. "

Therapies and Procedures

1.	Transplants (Transplant) 02/01/2012 - "A total of 458 patients participated in the study: 259 immunodeficient (HIV, cancer, renal transplant hyper-IgM syndrome, HIV and unintended pregnancy) and 178 immunocompetent individuals provided stool samples and 21 patients bile samples. " 09/01/2015 - "Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience."
2.	Immunomodulation 01/01/1996 - "The critical role of CD40-CD40 ligand-mediated effects in T cell-dependent B cell activation, shown through the study of patients with common variable immunodeficiency and hyper IgM syndrome, suggests a potential narrow target for immunomodulatory therapy. "
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 10/01/2004 - "Successful Bone Marrow Transplantation in a Child with X-Linked Hyper-IgM Syndrome." 03/01/2001 - "Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome." 02/03/2000 - "Correction of the hyper-IgM syndrome after liver and bone marrow transplantation." 05/01/1999 - "We report a case of an 11-year-old boy who underwent successful bone marrow transplantation for X-linked hyper-IgM syndrome (XHIM). " 05/01/1999 - "Successful bone marrow transplantation in a child with X-linked hyper-IgM syndrome."
4.	Hematopoietic Stem Cell Transplantation 10/01/2015 - "The long-term outcome of X-linked hyper-IgM syndrome (XHIM) caused by mutations in CD40LG is poor, and the only curative treatment is hematopoietic stem cell transplantation (HSCT). " 02/01/2013 - "Hematopoietic stem cell transplantation for hyper-IgM syndromes." 05/01/2004 - "Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience." 07/01/2003 - "Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency."
5.	Stem Cell Transplantation 01/01/2005 - "Donor lymphocyte infusion can eliminate mixed chimerism in nonmyeloablative stem cell transplantation for correction of hyper-IgM syndrome." 06/01/2004 - "A 3 and 1/2-yr-old boy underwent matched unrelated stem cell transplantation (SCT) for hyper-IgM syndrome. "