EDAID2
MCID: ECT109
MIFTS: 30

Ectodermal Dysplasia and Immunodeficiency 2 (EDAID2)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 2:

Name: Ectodermal Dysplasia and Immunodeficiency 2 56 73 29 6
Edaid2 56 73
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 56
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant 73
Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2 56
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2 56
Ectodermal Dysplasia Hypohidrotic with Immunodeficiency 73
Dysplasia, Ectodermal, and Immunodeficiency, Type 2 39
Hed-Id 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
see also the x-linked form


HPO:

31
ectodermal dysplasia and immunodeficiency 2:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Ectodermal Dysplasia and Immunodeficiency 2

OMIM : 56 EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291. (612132)

MalaCards based summary : Ectodermal Dysplasia and Immunodeficiency 2, also known as edaid2, is related to ectodermal dysplasia and immunodeficiency 1 and hypohidrotic ectodermal dysplasia with immunodeficiency. An important gene associated with Ectodermal Dysplasia and Immunodeficiency 2 is NFKBIA (NFKB Inhibitor Alpha). Affiliated tissues include t cells and b cells, and related phenotypes are recurrent respiratory infections and frontal bossing

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia and immunodeficiency 2: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.

Related Diseases for Ectodermal Dysplasia and Immunodeficiency 2

Diseases related to Ectodermal Dysplasia and Immunodeficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia and immunodeficiency 1 12.1
2 hypohidrotic ectodermal dysplasia with immunodeficiency 11.9
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.4
4 immune deficiency disease 10.4
5 ectodermal dysplasia 10.4
6 incontinentia pigmenti 10.3
7 osteopetrosis 10.3

Graphical network of the top 20 diseases related to Ectodermal Dysplasia and Immunodeficiency 2:



Diseases related to Ectodermal Dysplasia and Immunodeficiency 2

Symptoms & Phenotypes for Ectodermal Dysplasia and Immunodeficiency 2

Human phenotypes related to Ectodermal Dysplasia and Immunodeficiency 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 frontal bossing 31 HP:0002007
3 hypohidrosis 31 HP:0000966
4 hypodontia 31 HP:0000668
5 sparse hair 31 HP:0008070
6 anhidrosis 31 HP:0000970
7 aplasia of the sweat glands 31 HP:0011136
8 conical tooth 31 HP:0000698
9 concave nasal ridge 31 HP:0011120
10 heat intolerance 31 HP:0002046
11 recurrent infection of the gastrointestinal tract 31 HP:0004798
12 anhidrotic ectodermal dysplasia 31 HP:0007476
13 defective production of nfkb1-dependent cytokines 31 HP:0011114

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing

Head And Neck Teeth:
hypodontia
conical teeth

Head And Neck Nose:
saddle nose

Abdomen Gastrointestinal:
gastrointestinal infections, recurrent

Skin Nails Hair Skin:
hypohidrosis
anhidrosis
heat intolerance
lack of sweat glands
cutaneous candidiasis

Immunology:
recurrent infections
low or normal serum immunoglobulins
defective production of nfkb1-dependent cytokines by white blood cells
impaired immune responses

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
light, sparse hair

Clinical features from OMIM:

612132

Drugs & Therapeutics for Ectodermal Dysplasia and Immunodeficiency 2

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia and Immunodeficiency 2

Genetic Tests for Ectodermal Dysplasia and Immunodeficiency 2

Genetic tests related to Ectodermal Dysplasia and Immunodeficiency 2:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia and Immunodeficiency 2 29 NFKBIA

Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards organs/tissues related to Ectodermal Dysplasia and Immunodeficiency 2:

40
T Cells, B Cells

Publications for Ectodermal Dysplasia and Immunodeficiency 2

Articles related to Ectodermal Dysplasia and Immunodeficiency 2:

(show all 28)
# Title Authors PMID Year
1
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. 6 56
29948576 2018
2
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. 6 56
28417298 2017
3
Anhidrotic ectodermal dysplasia: a new mutation. 6 56
23870671 2013
4
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. 6 56
23864385 2013
5
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 6 56
23708964 2013
6
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 56 6
18412279 2008
7
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. 6 56
17931563 2007
8
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. 56 6
15337789 2004
9
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 6 56
14523047 2003
10
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. 56
28597146 2017
11
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 6
26888281 2016
12
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 56
26691317 2016
13
Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. 56
16769798 2006
14
BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. 61
27411570 2016
15
B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. 61
26307434 2015
16
Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. 61
23405946 2014
17
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). 61
20499091 2010
18
The zinc finger domain of IKKγ (NEMO) protein in health and disease. 61
20345847 2010
19
Mutations in the zinc finger domain of IKK gamma block the activation of NF-kappa B and the induction of IL-2 in stimulated T lymphocytes. 61
18207244 2008
20
The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination. 61
18178844 2008
21
Preimplantation diagnosis for immunodeficiencies. 61
17298726 2007
22
Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. 61
16547522 2006
23
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 61
16228229 2005
24
A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha. 61
12867425 2003
25
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 61
12045264 2002
26
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 61
11484156 2001
27
Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. 61
11241484 2001
28
A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). 61
11047757 2000

Variations for Ectodermal Dysplasia and Immunodeficiency 2

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFKBIA NM_020529.2(NFKBIA):c.110T>G (p.Met37Arg)SNV Pathogenic 590306 rs1566591073 14:35873741-35873741 14:35404535-35404535
2 NFKBIA NM_020529.2(NFKBIA):c.110T>A (p.Met37Lys)SNV Pathogenic 590307 rs1566591073 14:35873741-35873741 14:35404535-35404535
3 NFKBIA NM_020529.2(NFKBIA):c.107C>A (p.Ser36Tyr)SNV Pathogenic 590308 rs1566591076 14:35873744-35873744 14:35404538-35404538
4 NFKBIA NM_020529.2(NFKBIA):c.94A>G (p.Ser32Gly)SNV Pathogenic 590309 rs1566591086 14:35873757-35873757 14:35404551-35404551
5 NFKBIA NM_020529.2(NFKBIA):c.96C>G (p.Ser32Arg)SNV Pathogenic 590310 rs1566591082 14:35873755-35873755 14:35404549-35404549
6 NFKBIA NM_020529.2(NFKBIA):c.95G>A (p.Ser32Asn)SNV Pathogenic 590311 rs28933100 14:35873756-35873756 14:35404550-35404550
7 NFKBIA NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile)SNV Pathogenic 14003 rs28933100 14:35873756-35873756 14:35404550-35404550
8 NFKBIA NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter)SNV Pathogenic 14004 rs121913664 14:35873819-35873819 14:35404613-35404613
9 NFKBIA NM_020529.2(NFKBIA):c.40G>T (p.Glu14Ter)SNV Pathogenic 14005 rs121913665 14:35873811-35873811 14:35404605-35404605
10 NFKBIA NM_020529.2(NFKBIA):c.547+10C>TSNV Conflicting interpretations of pathogenicity 313113 rs201614038 14:35872346-35872346 14:35403140-35403140
11 NFKBIA NM_020529.2(NFKBIA):c.554C>T (p.Thr185Met)SNV Conflicting interpretations of pathogenicity 313111 rs142195196 14:35872059-35872059 14:35402853-35402853
12 NFKBIA NM_020529.2(NFKBIA):c.337-3T>CSNV Conflicting interpretations of pathogenicity 576934 rs756930611 14:35872569-35872569 14:35403363-35403363
13 NFKBIA NM_020529.2(NFKBIA):c.847A>T (p.Ser283Cys)SNV Uncertain significance 565672 rs989569540 14:35871659-35871659 14:35402453-35402453
14 NFKBIA NM_020529.2(NFKBIA):c.810C>T (p.Gly270=)SNV Uncertain significance 567681 rs983972574 14:35871696-35871696 14:35402490-35402490
15 NFKBIA NM_020529.2(NFKBIA):c.437C>T (p.Thr146Ile)SNV Uncertain significance 583048 rs753691609 14:35872466-35872466 14:35403260-35403260
16 NFKBIA NM_020529.2(NFKBIA):c.936C>T (p.Gly312=)SNV Uncertain significance 469610 rs1250939805 14:35871237-35871237 14:35402031-35402031
17 NFKBIA NM_020529.2(NFKBIA):c.228-3C>TSNV Uncertain significance 469609 rs374251732 14:35873007-35873007 14:35403801-35403801
18 NFKBIA NM_020529.2(NFKBIA):c.790C>T (p.Arg264Trp)SNV Uncertain significance 649160 14:35871716-35871716 14:35402510-35402510
19 NFKBIA NM_020529.2(NFKBIA):c.549C>T (p.Gly183=)SNV Uncertain significance 652039 14:35872064-35872064 14:35402858-35402858
20 NFKBIA NM_020529.2(NFKBIA):c.368A>G (p.Gln123Arg)SNV Uncertain significance 648247 14:35872535-35872535 14:35403329-35403329
21 NFKBIA NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1])deletion Uncertain significance 859175 14:35871619-35871627 14:35402413-35402421
22 NFKBIA NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu)SNV Uncertain significance 839804 14:35871824-35871824 14:35402618-35402618
23 NFKBIA NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser)SNV Uncertain significance 858355 14:35872906-35872906 14:35403700-35403700
24 NFKBIA NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly)SNV Uncertain significance 853953 14:35872933-35872933 14:35403727-35403727
25 NFKBIA NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys)SNV Uncertain significance 841632 14:35872949-35872949 14:35403743-35403743
26 NFKBIA NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro)SNV Uncertain significance 844597 14:35873642-35873642 14:35404436-35404436
27 NFKBIA NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)SNV Uncertain significance 841041 14:35873672-35873672 14:35404466-35404466
28 NFKBIA NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn)SNV Uncertain significance 842008 14:35873799-35873799 14:35404593-35404593
29 NFKBIA NM_020529.3(NFKBIA):c.*252T>GSNV Uncertain significance 883768 14:35870967-35870967 14:35401761-35401761
30 NFKBIA NM_020529.3(NFKBIA):c.*102T>GSNV Uncertain significance 883769 14:35871117-35871117 14:35401911-35401911
31 NFKBIA NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg)SNV Uncertain significance 881430 14:35871262-35871262 14:35402056-35402056
32 NFKBIA NM_020529.2(NFKBIA):c.379G>A (p.Ala127Thr)SNV Uncertain significance 313114 rs377380656 14:35872524-35872524 14:35403318-35403318
33 NFKBIA NM_020529.2(NFKBIA):c.-80C>TSNV Uncertain significance 313121 rs886050476 14:35873930-35873930 14:35404724-35404724
34 NFKBIA NM_020529.2(NFKBIA):c.*366G>ASNV Uncertain significance 313100 rs552418731 14:35870853-35870853 14:35401647-35401647
35 NFKBIA NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg)SNV Uncertain significance 881869 14:35873720-35873720 14:35404514-35404514
36 NFKBIA NM_020529.3(NFKBIA):c.-42G>TSNV Uncertain significance 883037 14:35873892-35873892 14:35404686-35404686
37 NFKBIA NM_020529.3(NFKBIA):c.-73C>ASNV Uncertain significance 883038 14:35873923-35873923 14:35404717-35404717
38 NFKBIA NM_020529.2(NFKBIA):c.*302A>CSNV Uncertain significance 313101 rs886050475 14:35870917-35870917 14:35401711-35401711
39 NFKBIA NM_020529.2(NFKBIA):c.*142_*143dupduplication Likely benign 313104 rs11569610 14:35871075-35871076 14:35401869-35401870
40 NFKBIA NM_020529.2(NFKBIA):c.-87_-80dupduplication Likely benign 313120 rs540103354 14:35873929-35873930 14:35404723-35404724
41 NFKBIA NM_020529.3(NFKBIA):c.705C>T (p.Leu235=)SNV Likely benign 800152 14:35871801-35871801 14:35402595-35402595
42 NFKBIA NM_020529.3(NFKBIA):c.219C>T (p.Asp73=)SNV Likely benign 792265 14:35873632-35873632 14:35404426-35404426
43 NFKBIA NM_020529.3(NFKBIA):c.501C>T (p.Cys167=)SNV Likely benign 778795 14:35872402-35872402 14:35403196-35403196
44 NFKBIA NM_020529.3(NFKBIA):c.876G>A (p.Glu292=)SNV Likely benign 743328 14:35871630-35871630 14:35402424-35402424
45 NFKBIA NM_020529.2(NFKBIA):c.907-9T>GSNV Likely benign 537324 rs781071814 14:35871275-35871275 14:35402069-35402069
46 NFKBIA NM_020529.2(NFKBIA):c.791G>A (p.Arg264Gln)SNV Likely benign 537325 rs149917774 14:35871715-35871715 14:35402509-35402509
47 NFKBIA NM_020529.2(NFKBIA):c.228-9T>CSNV Likely benign 537323 rs539761554 14:35873013-35873013 14:35403807-35403807
48 NFKBIA NM_020529.2(NFKBIA):c.186C>T (p.Gly62=)SNV Likely benign 537327 rs143798499 14:35873665-35873665 14:35404459-35404459
49 NFKBIA NM_020529.2(NFKBIA):c.783A>C (p.Pro261=)SNV Likely benign 537326 rs376370831 14:35871723-35871723 14:35402517-35402517
50 NFKBIA NM_020529.2(NFKBIA):c.409C>T (p.Pro137Ser)SNV Likely benign 570970 rs147627228 14:35872494-35872494 14:35403288-35403288

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

73
# Symbol AA change Variation ID SNP ID
1 NFKBIA p.Ser32Ile VAR_034871 rs28933100

Expression for Ectodermal Dysplasia and Immunodeficiency 2

Search GEO for disease gene expression data for Ectodermal Dysplasia and Immunodeficiency 2.

Pathways for Ectodermal Dysplasia and Immunodeficiency 2

GO Terms for Ectodermal Dysplasia and Immunodeficiency 2

Sources for Ectodermal Dysplasia and Immunodeficiency 2

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