Hypohidrotic Ectodermal Dysplasia with Immunodeficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP643 MIFTS: 28	Hypohidrotic Ectodermal Dysplasia with Immunodeficiency Categories: Blood diseases, Eye diseases, Fetal diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards integrated aliases for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

Name: Hypohidrotic Ectodermal Dysplasia with Immunodeficiency ⁵⁸

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency ⁷¹

Anhidrotic Ectodermal Dysplasia with Immunodeficiency ⁵⁸

Hed-Id ⁵⁸

Eda-Id ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

hypohidrotic ectodermal dysplasia with immunodeficiency
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Skin diseases Blood diseases Oral diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency associated with other major defects

Immunodeficiency associated with other specified major defects

Orphanet: ⁵⁸

Rare eye diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare immunological diseases

Rare odontological diseases

External Ids:

ICD10 via Orphanet ³³ D82.8

UMLS via Orphanet ⁷² C1846006

Orphanet ⁵⁸ ORPHA98813

UMLS ⁷¹ C1846006

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Summaries for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards based summary : Hypohidrotic Ectodermal Dysplasia with Immunodeficiency, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to ectodermal dysplasia and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Hypohidrotic Ectodermal Dysplasia with Immunodeficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are Deubiquitination and Measles. Affiliated tissues include eye, skin and t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	ectodermal dysplasia	29.7	NFKBIA IKBKG
2	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	29.5	NFKBIA IKBKG
3	immune deficiency disease	29.2	NFKBIA IKBKG
4	ectodermal dysplasia and immunodeficiency 1	12.1
5	ectodermal dysplasia and immunodeficiency 2	11.9
6	anhidrosis	10.4
7	incontinentia pigmenti	10.3
8	osteopetrosis	10.3
9	autoimmune disease	10.2
10	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.2
11	graft-versus-host disease	10.2
12	colitis	10.2
13	hereditary lymphedema i	10.2
14	thrombocytopenia	10.2
15	agammaglobulinemia	10.2
16	pneumonia	10.2
17	hemolytic anemia	10.2
18	acute graft versus host disease	10.2
19	duodenal atresia	10.2
20	glycogen storage disease iv	9.5	NFKBIA IKBKG
21	shigellosis	9.5	NFKBIA IKBKG
22	t-cell lymphoblastic leukemia/lymphoma	9.4	NFKBIA IKBKG

Graphical network of the top 20 diseases related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

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Symptoms & Phenotypes for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

GenomeRNAi Phenotypes related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

²⁶ (show all 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-104	9.47	NFKBIA
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	9.47	NFKBIA
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.47	IKBKG
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-153	9.47	NFKBIA
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-17	9.47	IKBKG
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-191	9.47	NFKBIA
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-212	9.47	IKBKG
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.47	NFKBIA
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	9.47	IKBKG
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-34	9.47	IKBKG
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-40	9.47	NFKBIA
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	9.47	IKBKG NFKBIA
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-62	9.47	NFKBIA

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Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Search Clinical Trials , NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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Genetic Tests for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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Anatomical Context for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

⁴⁰

Eye, Skin, T Cells, B Cells

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Publications for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Articles related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency:

(show all 37)

#	Title	Authors	PMID	Year
1	A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. ⁶¹ ⁶	Martinez-Pomar N...Matamoros N	16228229	2005
2	Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. ⁶¹ ⁶	Orange JS...Geha RS	12045264	2002
3	Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). ⁶¹ ⁶	Kosaki K...Matsuo N	11484156	2001
4	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 ⁶	Zonana J...Ferguson BM	11047757	2000
5	Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. ⁶	Boisson B...Yasumi T	30422821	2019
6	IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ⁶	Moriya K...Kanegane H	29948576	2018
7	Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. ⁶	Staples E...Thaventhiran JED	28417298	2017
8	Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. ⁶	Lee AJ...Boisson-Dupuis S	26888281	2016
9	Anhidrotic ectodermal dysplasia: a new mutation. ⁶	Giancane G...Duse M	23870671	2013
10	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	Yoshioka T...Heike T	23864385	2013
11	A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. ⁶	Schimke LF...Torgerson TR	23708964	2013
12	NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients. ⁶	Takada H...Hara T	20412081	2010
13	IgA and IgG hypogammaglobulinemia in Waldenström's macroglobulinemia. ⁶	Hunter ZR...Treon SP	19903677	2010
14	A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. ⁶	Lopez-Granados E...Jain A	18412279	2008
15	Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. ⁶	McDonald DR...Geha RS	17931563	2007
16	Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients. ⁶	Zou CC...Zhao ZY	17910706	2007
17	A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation. ⁶	Vinolo E...Agou F	16379012	2006
18	Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation. ⁶	Orstavik KH...Steen-Johnsen J	16333836	2006
19	The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. ⁶	Janssen R...Lankester A	15337789	2004
20	X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival. ⁶	Nishikomori R...Nakahata T	14726382	2004
21	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. ⁶	Courtois G...Casanova JL	14523047	2003
22	Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). ⁶	Aradhya S...Nelson DL	11179023	2001
23	X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. ⁶	Doffinger R...Casanova JL	11242109	2001
24	Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. ⁶	Jain A...Strober W	11224521	2001
25	Transient B cell immaturity with intractable diarrhoea: a possible new immunodeficiency syndrome. ⁶	Lie SO...Steen-Johnsen J	117248	1978
26	BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ⁶¹	Darbinyan A...Tsankova NM	27411570	2016
27	B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. ⁶¹	Giardino G...Pignata C	26307434	2015
28	Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. ⁶¹	Carlberg VM...Krol AL	23405946	2014
29	A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). ⁶¹	Roberts CM...Ravenscroft JC	20499091	2010
30	The zinc finger domain of IKKγ (NEMO) protein in health and disease. ⁶¹	Shifera AS	20345847	2010
31	Successful umbilical cord blood transplantation for intractable eczematous eruption in hypohidrotic ectodermal dysplasia with immunodeficiency. ⁶¹	Minakawa S...Sawamura D	19663838	2009
32	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	Shifera AS...Horwitz MS	18207244	2008
33	The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination. ⁶¹	Souto-Carneiro MM...Lipsky PE	18178844	2008
34	Preimplantation diagnosis for immunodeficiencies. ⁶¹	Verlinsky Y...Kuliev A	17298726	2007
35	Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. ⁶¹	Wu CJ...Ashwell JD	16547522	2006
36	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	Tang ED...Guan KL	12867425	2003
37	Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. ⁶¹	Mansour S...Murday VA	11241484	2001

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Genes for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Genes related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	350	Causative germline mutation ⁵⁸
2	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

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Expression for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency.

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Pathways for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Pathways related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 66)

#	Super pathways	Score	Top Affiliating Genes
1	Deubiquitination ⁶⁵ Show member pathways Ub-specific processing proteases ⁶⁵	12.46	NFKBIA IKBKG
2	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.44	NFKBIA IKBKG
3	Herpes simplex virus 1 infection ³⁶	12.42	NFKBIA IKBKG
4	Downstream signaling events of B Cell Receptor (BCR) ⁶⁵ Show member pathways Activation of RAS in B cells ⁶⁵ Signaling by the B Cell Receptor (BCR) ⁶⁵	12.37	NFKBIA IKBKG
5	Toll-Like receptor Signaling Pathways ⁶⁴ Show member pathways IL-1 Family Signaling Pathways ⁶⁴ Immune response IL-1 signaling pathway ²² Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²² Inflammasome Activation Pathways ⁶⁴ Mucin expression in CF via TLRs, EGFR signaling pathways ²² NOD-like Receptor Signaling Pathways ⁶⁴	12.37	NFKBIA IKBKG
6	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ³⁶ Apoptosis ¹ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁴	12.35	NFKBIA IKBKG
7	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	12.35	NFKBIA IKBKG
8	G-AlphaQ Signaling ⁶³ Show member pathways G-AlphaI Signaling ⁶³ Thrombin Signaling ⁶³	12.32	NFKBIA IKBKG
9	4-1BB Pathway ⁶³ Show member pathways CD27 Pathway ⁶³ CD40 Signaling ⁶³ CMV and MAPK Pathways ⁶³ NF-KappaB Activation by EBV ⁶³ NF-kappaB Activation by Viruses ⁶³ PKR Pathway ⁶³ SUMO Pathway ⁶³ TNFR2 Pathway ⁶³	12.32	NFKBIA IKBKG
10	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.28	NFKBIA IKBKG
11	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.26	NFKBIA IKBKG
12	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁶ Th1 and Th2 cell differentiation ³⁶	12.26	NFKBIA IKBKG
13	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶³ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.25	NFKBIA IKBKG
14	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁶ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁶	12.25	NFKBIA IKBKG
15	TRAF Pathway ⁶³ Show member pathways 14-3-3 Induced Apoptosis ⁶³ TNF Superfamily Pathway ⁶³ Toll-Like Receptors Pathway ⁶³	12.24	NFKBIA IKBKG
16	NF-kappaB Signaling ⁴	12.22	NFKBIA IKBKG
17	Cytosolic sensors of pathogen-associated DNA ⁶⁵ Show member pathways Cytosolic DNA-sensing pathway ³⁶ DEx/H-box helicases activate type I IFN and inflammatory cytokines production ⁶⁵ IkBA variant leads to EDA-ID ⁶⁵ IKBKB deficiency causes SCID ⁶⁵ IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) ⁶⁵ IRF3 mediated activation of type 1 IFN ⁶⁵ IRF3-mediated induction of type I IFN ⁶⁵ LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production ⁶⁵ Regulation by TREX1 ⁶⁵ Regulation of innate immune responses to cytosolic DNA ⁶⁵ RIP-mediated NFkB activation via ZBP1 ⁶⁵ STAT6-mediated induction of chemokines ⁶⁵ STING mediated induction of host immune responses ⁶⁵ TAK1 activates NFkB by phosphorylation and activation of IKKs complex ⁶⁵ TRAF6 mediated NF-kB activation ⁶⁵ ZBP1(DAI) mediated induction of type I IFNs ⁶⁵	12.21	NFKBIA IKBKG
18	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁵ Show member pathways Negative regulators of RIG-I/MDA5 signaling ⁶⁵ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁵ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁶ TRAF3-dependent IRF activation pathway ⁶⁵ TRAF6 mediated IRF7 activation ⁶⁵	12.2	NFKBIA IKBKG
19	Prolactin Signaling Pathway ³⁶ ¹ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.15	NFKBIA IKBKG
20	Insulin receptor recycling ⁶⁵ Show member pathways Collecting duct acid secretion ³⁶ Epithelial cell signaling in Helicobacter pylori infection ³⁶ Iron uptake and transport ⁶⁵ ROS, RNS production in phagocytes ⁶⁵ Transferrin endocytosis and recycling ⁶⁵ Vibrio cholerae infection ³⁶	12.15	NFKBIA IKBKG
21	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	12.11	NFKBIA IKBKG
22	CLEC7A (Dectin-1) signaling ⁶⁵ Show member pathways Alternative NF-kappaB pathway ¹ CLEC7A/inflammasome pathway ⁶⁵ C-type lectin receptors (CLRs) ⁶⁵	12.1	NFKBIA IKBKG
23	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²² APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	12.09	NFKBIA IKBKG
24	VEGF Pathway (Qiagen) ⁶³ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶³ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁵ VEGF Pathway ⁶³	12.08	NFKBIA IKBKG
25	B cell receptor signaling pathway (KEGG) ³⁶ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.08	NFKBIA IKBKG
26	Development VEGF signaling via VEGFR2 - generic cascades ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁴	12.07	NFKBIA IKBKG
27	Shigellosis ³⁶	12.06	NFKBIA IKBKG
28	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.06	NFKBIA IKBKG
29	TCR signaling (REACTOME) ⁶⁵ Show member pathways TCR signaling ⁶⁵	12.02	NFKBIA IKBKG
30	Human T-cell leukemia virus 1 infection ³⁶	12.01	NFKBIA IKBKG
31	CNTF Signaling ⁶³ Show member pathways FLT3 Signaling ⁶³ IL-3 Pathway ⁶³ Nur77-Induced AICD in Macrophage ⁶³ OSM Pathway ⁶³	12	NFKBIA IKBKG
32	IL-17 Family Signaling Pathways ⁶⁴ Show member pathways IL17 signaling pathway ¹ IL-17 signaling pathway ³⁶ Interleukin-17 signaling ⁶⁵ Mucin expression in CF via IL-6, IL-17 signaling pathways ²²	12	NFKBIA IKBKG
33	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	11.99	NFKBIA IKBKG
34	Salmonella infection (KEGG) ³⁶	11.97	NFKBIA IKBKG
35	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶³ ErbB receptor signaling network ¹	11.97	NFKBIA IKBKG
36	Viral carcinogenesis ³⁶	11.96	NFKBIA IKBKG
37	IL-1 signaling pathway ¹ Show member pathways IL1-mediated signaling events ¹ Interleukin-1 signaling ⁶⁵ MAP3K8 (TPL2)-dependent MAPK1/3 activation ⁶⁵ Structural Pathway of Interleukin 1 (IL-1) ¹	11.96	NFKBIA IKBKG
38	Pathogenic Escherichia coli infection ³⁶	11.93	NFKBIA IKBKG
39	Diseases associated with the TLR signaling cascade ⁶⁵ Show member pathways Diseases of Immune System ⁶⁵ Interleukin-1 Induced Activation of NF-kappa-B ¹ IRAK1 recruits IKK complex ⁶⁵ IRAK1 recruits IKK complex upon TLR7/8 or 9 stimulation ⁶⁵ IRAK4 deficiency (TLR2/4) ⁶⁵ IRAK4 deficiency (TLR5) ⁶⁵ MyD88 deficiency (TLR2/4) ⁶⁵ MyD88 deficiency (TLR5) ⁶⁵ Simplified Depiction of MYD88 Distinct Input-Output Pathway ¹ TLR4 Signaling and Tolerance ¹ Toll-like Receptor Signaling ¹	11.92	NFKBIA IKBKG
40	Toxoplasmosis ³⁶ Show member pathways Leishmaniasis ³⁶	11.91	NFKBIA IKBKG
41	NOD-like receptor signaling pathway ³⁶	11.89	NFKBIA IKBKG
42	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	11.87	NFKBIA IKBKG
43	Bacterial infections in CF airways ²² Show member pathways IL-1 beta-dependent CFTR expression ²² Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²²	11.84	NFKBIA IKBKG
44	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	11.77	NFKBIA IKBKG
45	Osteoclast differentiation ³⁶	11.71	NFKBIA IKBKG
46	MAPK Pathway ⁷⁰ Show member pathways Toll-like Receptor Pathway ⁷⁰	11.68	NFKBIA IKBKG
47	G12-G13 in Cellular Signaling ⁶³	11.67	NFKBIA IKBKG
48	Yersinia infection ³⁶	11.66	NFKBIA IKBKG
49	TNF signaling pathway ³⁶	11.62	NFKBIA IKBKG
50	NF-kappa B signaling pathway ³⁶	11.57	NFKBIA IKBKG

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GO Terms for Hypohidrotic Ectodermal Dysplasia with Immunodeficiency

Biological processes related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein deubiquitination	GO:0016579	9.16	NFKBIA IKBKG
2	interleukin-1-mediated signaling pathway	GO:0070498	8.96	NFKBIA IKBKG
3	I-kappaB kinase/NF-kappaB signaling	GO:0007249	8.62	NFKBIA IKBKG

Molecular functions related to Hypohidrotic Ectodermal Dysplasia with Immunodeficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin protein ligase binding	GO:0031625	8.62	NFKBIA IKBKG

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