PedAM
Pediatric Disease Annotations & Medicines
| Disease | ectodermal dysplasia |
| Symptom | C0021051|immunodeficiency |
| Sentences | 21 |
| PubMedID- 25688341 | His normal cell counts and toll-like receptor function are potentially relevant to the evaluation of other thes patients and while they do not exclude the diagnosis these features may help differentiate thes from ectodermal dysplasia with immunodeficiency and related disorders. |
| PubMedID- 23864385 | Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel nfkbia mutation, p.ser36tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. |
| PubMedID- 22626597 | Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. |
| PubMedID- 21720903 | X-linked ectodermal dysplasia with immunodeficiency (xl-ed-id) is caused by hypomorphic mutations in nemo, which encodes nuclear factor-kappab (nf-kappab) essential modulator. |
| PubMedID- 22493517 | Revertant somatic mosaicisms have been reported in several pids, including scid (caused by mutations in ada hirschhorn et al., 1996, il2rg stephan et al., 1996; speckmann et al., 2008, rag1 wada et al., 2005, and cd3ζ rieux-laucat et al., 2006), x-linked ectodermal dysplasia with immunodeficiency (xl-eda-id; nishikomori et al., 2004), wiskott-aldrich syndrome (was; ariga et al., 2001; wada et al., 2003; stewart et al., 2007; trifari et al., 2010), and lymphocyte adhesion deficiency-1 (lad-1; tone et al., 2007; uzel et al., 2008). |
| PubMedID- 21544519 | X-linked anhidrotic ectodermal dysplasia with immunodeficiency secondary to mutations in nemo gives a much broader immunodeficiency in addition to the csr defect and has been described in the ejp review on syndromic primary immunodeficiencies of kersseboom et al. |
| PubMedID- 21734245 | Hypomorphic mutations in the x-linked nemo gene and hypermorphic mutations in the autosomal ikba gene cause x-linked recessive and autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (eda-id) syndromes. |
| PubMedID- 26117626 | Hypomorphic mutations in the ikbkg gene result in different forms of anhidrotic ectodermal dysplasia with immunodeficiency (eda-id) in males without affecting carrier females. |
| PubMedID- 24100029 | Here, we investigated the effect of the d406v mutation found in the nemo zf of an ectodermal dysplasia with immunodeficiency patients. |
| PubMedID- 25738983 | They include anhidrotic ectodermal dysplasia with immunodeficiency and myeloid differentiation primary response 88 (myd88) deficiency , both autosomal recessive. |
| PubMedID- 21622647 | Hypomorphic mutations in the x-linked human nemo gene cause various forms of anhidrotic ectodermal dysplasia with immunodeficiency (eda-id). |
| PubMedID- 22236433 | Germline mutations in two genes, nemo and cybb, have long been known to cause other human diseases-incontinentia pigmenti (ip) and anhidrotic ectodermal dysplasia with immunodeficiency (eda-id) (nemo/ikkg), and x-linked chronic granulomatous disease (cgd) (cybb)-but specific mutations in either of these two genes have recently been shown to cause xr-msmd. |
| PubMedID- 26269396 | Anhidrotic ectodermal dysplasia with immunodeficiency (eda-id, omim 300291) and incontinentia pigmenti (ip, omim 308300) are two rare diseases, caused by mutations of the ikbkg/nemo gene. |
| PubMedID- 23708964 | A novel gain-of-function ikba mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. |
| PubMedID- 22894609 | The latter is critical in csr, as shown by the description of patients with ectodermal dysplasia associated with immunodeficiency (eda-id) (omim #300291). |
| PubMedID- 22635013 | Anhidrotic ectodermal dysplasia with immunodeficiency (eda-id) is characterized according to its various manifestations, which include ectodermal dysplasia, vascular anomalies, osteopetrosis, and diverse immunological abnormalities such as susceptibility to pathogens, impaired antibody responses to polysaccharides, hypogammaglobulinemia, hyper-igm syndrome, impaired natural killer cell cytotoxicity, and autoimmune diseases. |
| PubMedID- 22517901 | X-linked anhidrotic ectodermal dysplasia with immunodeficiency (xl-eda-id) is caused by hypomorphic mutations in the nf-kappab essential modulator (nemo) gene and manifests clinically in various ways. |
| PubMedID- 22284529 | Deficiency of the nuclear factor-kappa-b essential modulator (nemo) is a rare x-linked disorder that presents in boys as hypohydrotic ectodermal dysplasia with immunodeficiency due to defective nuclear factor-kappab activation. |
| PubMedID- 21993693 | X-linked anhidrotic ectodermal dysplasia with immunodeficiency (x-eda-id) is caused by hypomorphic mutations in the gene encoding nuclear factor-kappab essential modulator protein (nemo). |
| PubMedID- 20345847 | The third category is composed of hypomorphic mutations involving the stop codon causing ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema (ol-eda-id) in males. |
| PubMedID- 21537100 | ectodermal dysplasia with immunodeficiency (ed-id) and ectodermal dysplasia with immunodeficiency, osteopetrosis and lymphedema (ol-ed-id) are allelic to ip as both are caused by mutation in the same gene (nemo)5. the mutation causing ip are severe compared to those causing ed-id and ol- ed-id. |
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