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Type 1 Hyper-IgM Immunodeficiency Syndrome

Subscribe to New Research on Type 1 Hyper-IgM Immunodeficiency Syndrome

An X-linked hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 LIGAND.

Also Known As:

Hyper-IgM Immunodeficiency Syndrome, Type 1; HIGM1 Syndrome; Hyper-IgM Immunodeficiency, X-Linked; Hyper-IgM Syndrome 1; HIGM1 Syndromes; Hyper IgM Immunodeficiency Syndrome, Type 1; Hyper IgM Immunodeficiency, X Linked; Hyper IgM Syndrome 1; Hyper-IgM Immunodeficiencies, X-Linked; Immunodeficiencies, X-Linked Hyper-IgM; Immunodeficiency, X-Linked Hyper-IgM; Syndrome 1, Hyper-IgM; Syndrome, HIGM1; Syndromes, HIGM1; X-Linked Hyper-IgM Immunodeficiencies; X-Linked Hyper-IgM Immunodeficiency

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Lymphoid Leukemia

Experts

1.	Romero, Z: 1 article (04/2011)
2.	Martín, F: 1 article (04/2011)
3.	Molina, I J: 1 article (04/2011)
4.	Torres, S: 1 article (04/2011)
5.	Muñoz, P: 1 article (04/2011)
6.	Cobo, M: 1 article (04/2011)
7.	Unciti, J D: 1 article (04/2011)
8.	Pál, Endre: 1 article (05/2007)
9.	Simon, Gábor: 1 article (05/2007)
10.	Gömöri, Eva: 1 article (05/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type 1 Hyper-IgM Immunodeficiency Syndrome:

1.	CD40 Ligand (CD40L)IBA 02/01/1997 - "Mutations of the CD40L gene have been associated with the X-linked hyper-IgM immunodeficiency syndrome, pointing to the critical role of the CD40/CD40L interaction in the T cell-B cell interplay. " 04/01/2011 - "CD40L, the gene mutated in the X-linked hyper-immunoglobulin M syndrome (HIGM1), is tightly regulated to allow surface expression of its product only on T cells stimulated by antigen encounter. " 05/01/1995 - "In HIGM1 syndrome, which is characterized by greatly decreased levels of IgG, IgA and IgE, there are mutations in CD40L resulting in a completely non-functional extracellular domain. " 08/01/1996 - "In hyper-immunoglobulin M1 (HIGM1) syndrome, which is characterized by greatly decreased levels of immunoglobulin G, A and E (IgG, IgA and IgE), there are mutations in the CD40L resulting in a completely non-functional extracellular domain. "
2.	Immunoglobulin M (IgM)IBA 07/01/1995 - "We challenge the theory that the CD40-CD40 ligand is the only explanation for X-linked immunodeficiency in patients with hyper-immunoglobulin M (IgM) syndrome (HIGM1), and we demonstrate an intrinsic defect in the patients' B cells. " 04/01/2011 - "CD40L, the gene mutated in the X-linked hyper-immunoglobulin M syndrome (HIGM1), is tightly regulated to allow surface expression of its product only on T cells stimulated by antigen encounter. "
3.	Immunoglobulin G (IgG)IBA 05/01/1995 - "In HIGM1 syndrome, which is characterized by greatly decreased levels of IgG, IgA and IgE, there are mutations in CD40L resulting in a completely non-functional extracellular domain. " 08/01/1996 - "In hyper-immunoglobulin M1 (HIGM1) syndrome, which is characterized by greatly decreased levels of immunoglobulin G, A and E (IgG, IgA and IgE), there are mutations in the CD40L resulting in a completely non-functional extracellular domain. "
4.	Immunoglobulin E (IgE)IBA 05/01/1995 - "In HIGM1 syndrome, which is characterized by greatly decreased levels of IgG, IgA and IgE, there are mutations in CD40L resulting in a completely non-functional extracellular domain. " 08/01/1996 - "In hyper-immunoglobulin M1 (HIGM1) syndrome, which is characterized by greatly decreased levels of immunoglobulin G, A and E (IgG, IgA and IgE), there are mutations in the CD40L resulting in a completely non-functional extracellular domain. "
5.	Immunoglobulin A (IgA)IBA 05/01/1995 - "In HIGM1 syndrome, which is characterized by greatly decreased levels of IgG, IgA and IgE, there are mutations in CD40L resulting in a completely non-functional extracellular domain. " 08/01/1996 - "In hyper-immunoglobulin M1 (HIGM1) syndrome, which is characterized by greatly decreased levels of immunoglobulin G, A and E (IgG, IgA and IgE), there are mutations in the CD40L resulting in a completely non-functional extracellular domain. "
6.	Immunoglobulins (Immunoglobulin)IBA 08/01/1996 - "In hyper-immunoglobulin M1 (HIGM1) syndrome, which is characterized by greatly decreased levels of immunoglobulin G, A and E (IgG, IgA and IgE), there are mutations in the CD40L resulting in a completely non-functional extracellular domain. "
7.	AntigensIBA 04/01/2011 - "CD40L, the gene mutated in the X-linked hyper-immunoglobulin M syndrome (HIGM1), is tightly regulated to allow surface expression of its product only on T cells stimulated by antigen encounter. "
8.	A 19IBA 05/30/2007 - "The authors report two patients: a 67 year-old male treated because of chronic lymphoid leukemia, and a 19 year-old male having a hereditary immunodeficiency, X-linked hyper IgM syndrome. "