hypohidrotic Ectodermal dysplasia with immune deficiency

01/01/2005 - "Successful therapy with HLA-matched stem cells, obtained from these PGD children, has been achieved already for Diamond-Blackfan anemia hypohidrotic ectodermal dysplasia with immune deficiency and thalassemia."
02/01/2007 - "This paper presents the first cumulative experience (18 cycles) of PGD for detection of the following immunodeficiencies: Wiscott-Aldrich syndrome, X-linked hyper-IgM syndrome (HIGM), X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), ataxia telangiectasia and Omenn syndrome, resulting in the transfer of unaffected embryos in 13 cycles and the birth of seven unaffected children, with one healthy pregnancy ongoing. "
08/01/2004 - "This paper describes the current experience of preimplantation HLA typing, reviewed by the International Meeting on the subject, which includes preimplantation HLA typing in 147 cycles, 109 of which were carried out as part of preimplantation genetic diagnosis (PGD) for Fanconi anaemia, thalassaemia, Wiscott-Aldrich syndrome, hyperimmunoglobulin M syndrome, hypohidrotic ectodermal dysplasia with immune deficiency, and X-linked adrenoleukodystrophy, and 38 for the sole purpose of HLA typing for leukaemias and aplastic and Diamond-Blackfan anaemias. "
01/01/2005 - "Present experience of preimplantation HLA typing includes preimplantation HLA typing in 180 cycles, 122 of which were done as part of PGD for Fanconi anemia, thalassemia, Wiscott-Aldrich syndrome, hyper-immunoglobulin M syndrome, hypohidrotic ectodermal dysplasia with immune deficiency, and X-linked adrenoleukodystrophy, and 58 for the sole purpose of HLA typing for leukemias and for aplastic and Diamond-Blackfan anemia. "

11/01/2014 - "Genetic testing revealed a novel mutation in the nuclear factor kappa beta (NF-KB) essential modulator (NEMO) gene, confirming the diagnosis of OL-HED-ID. "
10/01/2013 - "The clinical presentation of an AD-EDA-ID patient was described and immunological, genetic, and biochemical analyses were performed, with a focus on nuclear factor kappa B (NF-κB) activation. "
08/15/2008 - "Gel shift assays demonstrated loss of recombinant human p50 binding to a NF-kappaB site 5' to the CYBB gene in U937 cells treated with NF-kappaB inhibitors, repressor-transfected U937 cells, and EDA-ID patients' cells. "
01/15/2008 - "The amplification of nonproductive Ig gene rearrangements from HED-ID B cells reflects the influence of the Ikkgamma-mediated canonical NF-kappaB pathway on specific molecular mechanisms involved in V(D)J recombination. "
06/01/2004 - "Less deleterious mutations in NF-kappaB essential modulator give rise to hypohidrotic ectodermal dysplasia with immune deficiency in affected males, a related but distinct phenotype. "

07/28/2011 - "All known X-linked EDA-ID-causing mutations impair NEMO protein expression, folding, or both. "
05/01/2008 - "The updated distribution of all the IP- and EDA-ID-causing mutations along the IKBKG gene highlights a secondary hotspot mutation in exon 10, which contains only 11% of the protein. "
02/01/2012 - "X-linked anhidrotic ectodermal dysplasia with immunodeficiency (X-EDA-ID) is caused by hypomorphic mutations in the gene encoding nuclear factor-κB essential modulator protein (NEMO). "
10/01/2010 - "Mutations affecting IKKγ have been associated with X-linked hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID), with the majority of these mutations affecting the C-terminal region of the protein where the zinc finger is located. "
11/15/2006 - "NEMO/IKKgamma gene, which is responsible of two allelic diseases in human, EDA-ID and IP, encodes for a protein with a central regulatory role in the activation of the NF-kB pathway. "

03/01/2008 - "Mutations in the zinc finger of I kappa B kinase gamma (IKK gamma) are associated with hypohidrotic ectodermal dysplasia-immune deficiency (HED-ID) in which the major immune deficit is the inability to switch Ab heavy chain class. "
02/01/2004 - "X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKgamma, the regulatory subunit of the IkappaB-kinase (IKK) complex. "
10/01/2003 - "X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the gene encoding NEMO/IKKgamma, the regulatory subunit of the IkappaB kinase (IKK) complex. "
01/01/2016 - "We present a unique case of BKV-associated encephalopathy in a man with hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID) due to IKK-gamma (NEMO) mutation, who developed progressive neurological symptoms. "
03/01/2008 - "Our data indicated that the failure of T cells to undergo activation in response to TCR stimuli may play a role in the pathophysiology of HED-ID and also showed that IKK gamma has a role in the post-ubiquitination processing of I kappa B alpha."

03/01/2008 - "X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is described in patients with hypomorphic mutations in IKBKG (the inhibitory kappaB kinase gamma gene), which encodes nuclear factor kappaB essential modulator (NEMO). "
04/01/2003 - "Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). "
05/01/2008 - "Mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. "

03/01/2001 - "Mutations in the coding region of IKBKG are associated with EDA-ID, and stop codon mutations, with OL-EDA-ID. "
10/01/2002 - "Finally, hypomorphic NEMO mutations have been found to cause anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), whilst stop codon mutations cause a more severe phenotype associating EDA-ID with osteopetrosis and lymphoedema (OL-EDA-ID). "
06/01/2002 - "In this patient with OL-EDA-ID, we detected the same NF-kappaB essential modulator stop codon hypomorphic mutation identified in the previous patient. "

09/26/2003 - "Mutations of the zinc finger are found in patients with hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) and lead to the impairment of TNF-alpha-stimulated IKK phosphorylation and activation. "
03/01/2001 - "Finally, we show that abnormal immunity in OL-EDA-ID patients results from impaired cell responses to lipopolysaccharide, interleukin (IL)-1beta, IL-18, TNFalpha and CD154. "

01/01/2018 - "Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. "
10/01/2003 - "Here, we describe an autosomal-dominant (AD) form of EDA-ID associated with a heterozygous missense mutation at serine 32 of IkappaBalpha. "

03/10/2006 - "We investigated the effect of an alanine to glycine substitution found in the NEMO polypeptide of an EDA-ID patient. "
05/01/2008 - "Mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG), also called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males. "

01/01/2006 - "Analysis of the NEMO gene revealed a nucleotide change in the consensus sequence of the splicing donor site of exon 6 IVS6 + 5G --> A(1027 + 5G --> A), which has not previously been described in EDA-ID. "
01/15/2008 - "We found that the CDR3(H) from HED-ID B cells were abnormally long, as a result of a marked reduction in the exonuclease activity on the V, D, and J germline coding ends, whereas random N-nucleotide addition and palindromic overhangs (P nucleotides) were comparable to controls. "

01/01/2022 - "Herein, we sought to investigate the underlying mechanisms of clinical autoinflammatory manifestations in a 12-years old male NEMO deficiency (EDA-ID, OMIM #300,291) patient by comparing the immune profile of the patient before and after hematopoietic stem cell transplantation (HSCT). "
01/01/2018 - "The outcome of hematopoietic stem cell transplantation is poor in patients with AD EDA-ID despite achievement of chimerism. "
10/01/2013 - "Also, hematopoietic stem cell transplantation for AD-EDA-ID is still a clinical challenge."
10/01/2013 - "The patient was diagnosed with AD-EDA-ID and underwent hematopoietic stem cell transplantation. "

02/01/2007 - "HLA-identical stem cells from some of these children have been used for transplantation therapy, resulting in the restoration of normal function in siblings with HIGM and HED-ID."

02/01/2007 - "HLA-identical stem cells from some of these children have been used for transplantation therapy, resulting in the restoration of normal function in siblings with HIGM and HED-ID."