eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ectodermal dysplasias |
| Symptom | C0021051|immunodeficiency |
| Sentences | 21 |
| 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- 22626597 | Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. |
| PubMedID- 25738983 | They include anhidrotic ectodermal dysplasia with immunodeficiency and myeloid differentiation primary response 88 (myd88) deficiency , both autosomal recessive. |
| 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- 21544519 | In this section, we will discuss the different pads in more detail including specific diagnostic features and most important clinical complications (table 2).table 1the heterogeneous spectrum of primary antibody deficienciesdiseasecirculating b cellsserum ig decreasecongenitial agammaglobulinemiasx-linked btk deficiencysevere decreaseall isotypesautosomal recessive μ heavy chain deficiencysevere decreaseall isotypes λ 5 deficiencysevere decreaseall isotypes ig (or cd79) α deficiencysevere decreaseall isotypes ig (or cd79) β deficiencysevere decreaseall isotypes blnksevere decreaseall isotypesclass switch recombination deficiencyx-linked cd40 ligand deficiencynormaligg, igaautosomal recessive cd40 deficiencynormaligg, iga aid deficiencynormaligg, iga ung deficiencynormaligg, igaanhydrotic ectodermal dysplasia withnormaligg and/or iga and/or immunodeficiency (nemo deficiency, syndromic)specific anti-polysaccharidepms2 deficiencynormal/decreaseigg variable, igaother pads with known genetic defectcd19 deficiencynormaligg, iga, and/or igmcd81 deficiencynormaligg, iga, and/or igmicos deficiencynormaligg, iga, and/or igmbaff receptor deficiencydecreasevariabletaci deficiency (increased disease susceptibility)normalvariableidiopathic primary antibody deficienciescommon variable immunodeficiency disordersbnormal/decreaseigg, iga, and/or igmcpossible cvid/cvid-like disordersnormal/decreaseiggtransient hypogammaglobulinemia of infancynormaligg, iga, and/or igmselective igm deficiencynormaligmselective iga deficiencyanormaligaigg2 deficiencyanormaligg2specific anti-polysaccaride antibody deficiencyanormalspecific anti-polysaccharideother pids associated with antibody deficiencysevere combined immunodeficiencynormal/decreasedall isotypesdna repair disordersnormal/decreasevariablead hyper-ige syndromenormalspecific antibodieswiscott–aldrich syndromenormaligm, specific anti-polysaccharidebtk bruton’s tyrosine kinase, cvid common variable immunodeficiency, taci transmembrane activator and caml interactor, aid activation-induced cytidine deaminase, ung uracil-n glycosylase, pmst2 postmeiotic segregation increased 2, icos inducible costimulator, baff b cell-activating factor, pid pelvic inflammatory diseaseaoften combined in one patientbcan be preceded by conditions marked with acage >2–4 years and decreased response to vaccinationdt-cells show a severe decrease in most patientstable 2clinical complications of primary antibody deficiencyclinical complicationspredominantly associated withoccurrencearecurrent urtiall padvery commonrecurrent ent infectionsall padvery commonrecurrent severe pneumoniacong. |
| 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- 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- 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- 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- 21622647 | Hypomorphic mutations in the x-linked human nemo gene cause various forms of anhidrotic ectodermal dysplasia with immunodeficiency (eda-id). |
| PubMedID- 23708964 | A novel gain-of-function ikba mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. |
| 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- 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- 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- 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- 24100029 | Here, we investigated the effect of the d406v mutation found in the nemo zf of an ectodermal dysplasia with immunodeficiency patients. |
| 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- 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- 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. |
| 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- 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. |
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