Hypohidrotic X-Linked Hyper-IgM Immunodeficiency with Ectodermal Dysplasia

Also Known As:

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Type 1 Hyper-IgM Immunodeficiency Syndrome
2.	Ectodermal Dysplasia (Aplasia Cutis Congenita)
3.	Dermatitis

Experts

1.	Iwai, Kazuhiro: 1 article (03/2011)
2.	Nakagawa, Tomoko: 1 article (03/2011)
3.	Nakahara, Masaki: 1 article (03/2011)
4.	Nakano, Hiroyasu: 1 article (03/2011)
5.	Saeki, Yasushi: 1 article (03/2011)
6.	Sakata, Shin-ichi: 1 article (03/2011)
7.	Tanaka, Keiji: 1 article (03/2011)
8.	Taniguchi, Masami: 1 article (03/2011)
9.	Tokunaga, Fuminori: 1 article (03/2011)
10.	Brady, William: 1 article (12/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypohidrotic X-Linked Hyper-IgM Immunodeficiency with Ectodermal Dysplasia:

1.	NF-kappa B (NF-kB)IBA 03/01/2001 - "Overall, the phenotype observed in XHM-ED patients shows that the putative zinc-finger domain of NEMO has a regulatory function and demonstrates the definite requirement of CD40-mediated NF-kappaB activation for B cell immunoglobulin class-switching." 12/01/2004 - "Hypomorphic mutations in the zinc finger domain of NF-kappaB essential modulator (NEMO) cause X-linked hyper-IgM syndrome with ectodermal dysplasia (XHM-ED). " 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "
2.	CD40 Ligand (CD40L)IBA 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "
3.	Interleukin-12 (IL 12)IBA 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "
4.	CytokinesIBA 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "
5.	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "
6.	LipopolysaccharidesIBA 03/01/2001 - "Nevertheless, innate immunity is preserved in XHM-ED patients because APCs retain the capacity to respond to stimulation by lipopolysaccharide or Staphylococcus aureus Cowan's antigen (SAC). "
7.	Immunoglobulin IsotypesIBA 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "
8.	Immunoglobulin M (IgM)IBA 03/31/2011 - "Cpdm (chronic proliferative dermatitis) mice develop chronic dermatitis and an immunodeficiency with increased serum IgM, symptoms that resemble those of patients with X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia (XHM-ED), which is caused by mutations in NEMO (NF-κB essential modulator; also known as IKBKG). "
9.	AntigensIBA 03/01/2001 - "Nevertheless, innate immunity is preserved in XHM-ED patients because APCs retain the capacity to respond to stimulation by lipopolysaccharide or Staphylococcus aureus Cowan's antigen (SAC). "
10.	NF-KappaB Inhibitor alphaIBA 03/01/2001 - "These mutations prevent CD40 ligand (CD40L)-mediated degradation of inhibitor of NF-kappaB alpha (IkappaB-alpha) and account for the following observations: B cells from XHM-ED patients are unable to undergo immunoglobulin class-switch recombination and antigen-presenting cells (APCs) are unable to synthesize the NF-kappaB-regulated cytokines interleukin 12 (IL-12) or tumor necrosis factor alpha (TNF-alpha) when stimulated with CD40L. "