Immunodeficiency 18 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IMD18 MCID: IMM082 MIFTS: 44	Immunodeficiency 18 (IMD18) Categories: Bone diseases, Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Name: Immunodeficiency 18 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Immunodeficiency 18, Severe Combined Immunodeficiency Variant ⁷³ ²⁹ ⁶

Immunodeficiency 18, Scid Variant ⁵⁶ ⁷³ ²⁹

Cd3-Epsilon Deficiency ⁵⁶ ⁷³

Cd3epsilon Deficiency ¹² ¹⁵

Imd18 ⁵⁶ ⁷³

Immunodeficiency, Type 18 ³⁹

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
two unrelated families have been reported (last curated january 2014)

HPO:

³¹

immunodeficiency 18:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060017

OMIM ⁵⁶ 615615

OMIM Phenotypic Series ⁵⁶ PS300755

MeSH ⁴³ D007153

MedGen ⁴¹ C3810127 CN184330 CN184333

SNOMED-CT via HPO ⁶⁸ 234532001 258211005 48813009

UMLS ⁷¹ C3810127

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Summaries for Immunodeficiency 18

OMIM : ⁵⁶ Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004). (615615)

MalaCards based summary : Immunodeficiency 18, also known as immunodeficiency 18, severe combined immunodeficiency variant, is related to precursor t-cell acute lymphoblastic leukemia and leukemia. An important gene associated with Immunodeficiency 18 is CD3E (CD3e Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are defective t cell proliferation and lymphopenia

Disease Ontology : ¹² A severe combined immunodeficiency that has material basis in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 18: An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.

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Related Diseases for Immunodeficiency 18

Diseases related to Immunodeficiency 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	precursor t-cell acute lymphoblastic leukemia	29.5	TAL1 PTCRA
2	leukemia	10.1
3	immunodeficiency 17	10.0	CD3G CD3D
4	t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	9.7	CD3E CD3D CD247
5	coronin-1a deficiency	9.7	RAG1 CD3D
6	immune deficiency disease	9.7
7	thymoma, familial	9.7
8	good syndrome	9.7
9	thymoma	9.7
10	adenosine deaminase deficiency	9.7	RAG1 CD3D
11	cd3zeta deficiency	9.7	CD3G CD3D CD247
12	immunodeficiency 19	9.6	PTCRA CD3G CD3D
13	bare lymphocyte syndrome, type ii	9.6	RAG1 CD3D
14	t cell deficiency	9.6	RAG1 CD247
15	lymphoblastic lymphoma	9.4	TAL1 RAG1
16	omenn syndrome	9.4	RAG1 CD3G CD3D
17	aplastic anemia	9.3	CD3G CD3E CD3D CD247
18	combined t cell and b cell immunodeficiency	9.3	RAG1 CD3G CD3D
19	t-cell lymphoblastic leukemia/lymphoma	8.9	TAL1 RAG1 PTCRA CD3G
20	leukemia, acute lymphoblastic	8.8	TAL1 RAG1 CD247
21	severe combined immunodeficiency	8.8	RAG1 CD3G CD3E CD3D CD247

Graphical network of the top 20 diseases related to Immunodeficiency 18:

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Symptoms & Phenotypes for Immunodeficiency 18

Human phenotypes related to Immunodeficiency 18:

³¹ (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	defective t cell proliferation ³¹	occasional (7.5%)	HP:0030253
2	lymphopenia ³¹	very rare (1%)	HP:0001888
3	recurrent respiratory infections ³¹		HP:0002205
4	immunodeficiency ³¹		HP:0002721
5	recurrent otitis media ³¹		HP:0000403
6	recurrent gastroenteritis ³¹		HP:0031123
7	decreased proportion of cd3-positive t cells ³¹		HP:0045080

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory:
respiratory infections, recurrent

Head And Neck Ears:
otitis media, recurrent

Immunology:
primary immunodeficiency
normal b cells
decreased cd3 expression on t cells
decreased cytotoxic t cell activity
variably impaired t-cell proliferative responses
more

Abdomen Gastrointestinal:
gastroenteritis, recurrent

Clinical features from OMIM:

615615

MGI Mouse Phenotypes related to Immunodeficiency 18:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.55	CD247 CD3E CD3G PTCRA RAG1
2	hematopoietic system	MP:0005397	9.5	CD247 CD3D CD3E CD3G PTCRA RAG1
3	immune system	MP:0005387	9.17	CD247 CD3D CD3E CD3G PTCRA RAG1

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Drugs & Therapeutics for Immunodeficiency 18

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 18

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Genetic Tests for Immunodeficiency 18

Genetic tests related to Immunodeficiency 18:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 18 ²⁹	CD3E
2	Immunodeficiency 18, Severe Combined Immunodeficiency Variant ²⁹
3	Immunodeficiency 18, Scid Variant ²⁹

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Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

⁴⁰

T Cells, Nk Cells, B Cells, Bone Marrow, Bone

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Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

#	Title	Authors	PMID	Year
1	Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency. ⁶ ⁵⁶	Soudais C...Lisowska-Grospierre B	8490660	1993
2	Structural analysis of low TCR-CD3 complex expression in T cells of an immunodeficient patient. ⁶ ⁵⁶	Thoenes G...Lisowska-Grospierre B	1370449	1992
3	Immunodeficiency with low expression of the T cell receptor/CD3 complex. Effect on T lymphocyte activation. ⁵⁶ ⁶	Le Deist F...Fischer A	1676369	1991
4	Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. ⁵⁶	de Saint Basile G...Le Deist F	15546002	2004
5	Specific requirement for CD3epsilon in T cell development. ⁶	DeJarnette JB...Love PE	9843989	1998
6	Thymoma and immunodeficiency: (18)F-FDG-PET/CT imaging of Good syndrome. ⁶¹	Kelly A...Guettrot-Imbert G	23687646	2013
7	Bacteroides infections in children. ⁶¹	Brook I	7629859	1995

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Genes for Immunodeficiency 18

Genes related to Immunodeficiency 18 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD3E	CD3e Molecule	Protein Coding	1023.99	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	1370449 1676369 9843989 (more) 8490660
2	CD3D	CD3d Molecule	Protein Coding	7.02	DISEASES inferred ¹⁵
3	CD3G	CD3g Molecule	Protein Coding	6.86	DISEASES inferred ¹⁵
4	CD247	CD247 Molecule	Protein Coding	5.61	DISEASES inferred ¹⁵
5	TAL1	TAL BHLH Transcription Factor 1, Erythroid Differentiation Factor	Protein Coding	5.01	DISEASES inferred ¹⁵
6	RAG1	Recombination Activating 1	Protein Coding	4.93	DISEASES inferred ¹⁵
7	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	4.58	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

⁶ (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CD3E	NM_000733.4(CD3E):c.261_262del (p.Ser88fs)	deletion	Pathogenic	847887		11:118183488-118183489	11:118312773-118312774
2	CD3E	NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)	SNV	Pathogenic	847888		11:118184559-118184559	11:118313844-118313844
3	CD3E	NM_000733.3(CD3E):c.520+2T>C	SNV	Pathogenic	12744	rs483352928	11:118184591-118184591	11:118313876-118313876
4	CD3E	NM_000733.3(CD3E):c.176G>A (p.Trp59Ter)	SNV	Pathogenic	12745	rs121918659	11:118183405-118183405	11:118312690-118312690
5	CD3E	NM_000733.3(CD3E):c.128_129del (p.Thr43fs)	deletion	Pathogenic	12746	rs483352929	11:118183357-118183358	11:118312642-118312643
6	CD3E	NM_000733.4(CD3E):c.103+1G>A	SNV	Likely pathogenic	835442		11:118182886-118182886	11:118312171-118312171
7	CD3E	NM_000733.3(CD3E):c.103+1G>T	SNV	Likely pathogenic	570046	rs201543770	11:118182886-118182886	11:118312171-118312171
8	CD3E	NM_000733.3(CD3E):c.470C>T (p.Ala157Val)	SNV	Conflicting interpretations of pathogenicity	496074	rs140639753	11:118184539-118184539	11:118313824-118313824
9	CD3E	NM_000733.3(CD3E):c.211G>C (p.Asp71His)	SNV	Conflicting interpretations of pathogenicity	302662	rs148647954	11:118183440-118183440	11:118312725-118312725
10	CD3E	NM_000733.3(CD3E):c.458A>C (p.Lys153Thr)	SNV	Uncertain significance	302663	rs200258299	11:118184527-118184527	11:118313812-118313812
11	CD3E	NM_000733.3(CD3E):c.*441C>T	SNV	Uncertain significance	302667	rs886047736	11:118186698-118186698	11:118315983-118315983
12	CD3E	NM_000733.3(CD3E):c.-166G>A	SNV	Uncertain significance	302656	rs886047735	11:118175385-118175385	11:118304670-118304670
13	CD3E	NM_000733.3(CD3E):c.580G>A (p.Gly194Ser)	SNV	Uncertain significance	302664	rs141553540	11:118186213-118186213	11:118315498-118315498
14	CD3E	NM_000733.3(CD3E):c.*535C>G	SNV	Uncertain significance	302668	rs200286219	11:118186792-118186792	11:118316077-118316077
15	CD3E	NM_000733.3(CD3E):c.-73T>C	SNV	Uncertain significance	302658	rs867899567	11:118175478-118175478	11:118304763-118304763
16	CD3E	NM_000733.3(CD3E):c.73A>G (p.Asn25Asp)	SNV	Uncertain significance	302660	rs201867379	11:118179144-118179144	11:118308429-118308429
17	CD3E	NM_000733.3(CD3E):c.49+3G>A	SNV	Uncertain significance	541658	rs202200315	11:118175719-118175719	11:118305004-118305004
18	CD3E	NM_000733.3(CD3E):c.353-5C>A	SNV	Uncertain significance	541657	rs374456909	11:118184417-118184417	11:118313702-118313702
19	CD3E	NM_000733.3(CD3E):c.567+10G>T	SNV	Uncertain significance	569657	rs920180688	11:118185219-118185219	11:118314504-118314504
20	CD3E	NM_000733.4(CD3E):c.292T>C (p.Cys98Arg)	SNV	Uncertain significance	862305		11:118183521-118183521	11:118312806-118312806
21	CD3E	NM_000733.4(CD3E):c.360G>C (p.Glu120Asp)	SNV	Uncertain significance	860753		11:118184429-118184429	11:118313714-118313714
22	CD3E	NM_000733.4(CD3E):c.500G>T (p.Gly167Val)	SNV	Uncertain significance	856082		11:118184569-118184569	11:118313854-118313854
23	CD3E	NM_000733.4(CD3E):c.17A>C (p.His6Pro)	SNV	Uncertain significance	841090		11:118175684-118175684	11:118304969-118304969
24	CD3E	NM_000733.4(CD3E):c.202G>A (p.Gly68Ser)	SNV	Uncertain significance	838943		11:118183431-118183431	11:118312716-118312716
25	CD3E	NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)	SNV	Uncertain significance	645439		11:118184568-118184568	11:118313853-118313853
26	CD3E	NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)	SNV	Uncertain significance	646469		11:118186208-118186208	11:118315493-118315493
27	CD3E	NM_000733.3(CD3E):c.617G>A (p.Arg206His)	SNV	Uncertain significance	652168		11:118186250-118186250	11:118315535-118315535
28	CD3E	NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)	SNV	Uncertain significance	646902		11:118183527-118183527	11:118312812-118312812
29	CD3E	NM_000733.4(CD3E):c.82A>C (p.Met28Leu)	SNV	Uncertain significance	877840		11:118179153-118179153	11:118308438-118308438
30	CD3E	NM_000733.4(CD3E):c.408G>A (p.Val136=)	SNV	Uncertain significance	877842		11:118184477-118184477	11:118313762-118313762
31	CD3E	NM_000733.4(CD3E):c.441G>A (p.Leu147=)	SNV	Uncertain significance	877998		11:118184510-118184510	11:118313795-118313795
32	CD3E	NM_000733.4(CD3E):c.611A>G (p.Gln204Arg)	SNV	Uncertain significance	877999		11:118186244-118186244	11:118315529-118315529
33	CD3E	NM_000733.4(CD3E):c.*196C>G	SNV	Uncertain significance	878000		11:118186453-118186453	11:118315738-118315738
34	CD3E	NM_000733.4(CD3E):c.*247C>T	SNV	Uncertain significance	879461		11:118186504-118186504	11:118315789-118315789
35	CD3E	NM_000733.4(CD3E):c.*311C>T	SNV	Uncertain significance	879462		11:118186568-118186568	11:118315853-118315853
36	CD3E	NM_000733.4(CD3E):c.*383C>T	SNV	Uncertain significance	879463		11:118186640-118186640	11:118315925-118315925
37	CD3E	NM_000733.4(CD3E):c.530del (p.Lys177fs)	deletion	Uncertain significance	855359		11:118185171-118185171	11:118314456-118314456
38	CD3E	NC_000011.10:g.118316181T>C	SNV	Uncertain significance	879823		11:118186896-118186896	11:118316181-118316181
39	CD3E	NM_000733.4(CD3E):c.*522C>G	SNV	Uncertain significance	879465		11:118186779-118186779	11:118316064-118316064
40	CD3E	NM_000733.4(CD3E):c.*557T>C	SNV	Uncertain significance	879466		11:118186814-118186814	11:118316099-118316099
41	CD3E	NM_000733.4(CD3E):c.*559G>C	SNV	Uncertain significance	879821		11:118186816-118186816	11:118316101-118316101
42	CD3E	NM_000733.4(CD3E):c.*604G>T	SNV	Uncertain significance	879822		11:118186861-118186861	11:118316146-118316146
43	CD3E	NM_000733.4(CD3E):c.353-11A>T	SNV	Likely benign	877841		11:118184411-118184411	11:118313696-118313696
44	CD3E	NM_000733.4(CD3E):c.*410A>G	SNV	Likely benign	879464		11:118186667-118186667	11:118315952-118315952
45	CD3E	NM_000733.4(CD3E):c.103+10T>C	SNV	Likely benign	744708		11:118182895-118182895	11:118312180-118312180
46	CD3E	NM_000733.4(CD3E):c.567+6G>A	SNV	Likely benign	739300		11:118185215-118185215	11:118314500-118314500
47	CD3E	NM_000733.4(CD3E):c.27T>G (p.Val9=)	SNV	Likely benign	757751		11:118175694-118175694	11:118304979-118304979
48	CD3E	NM_000733.4(CD3E):c.297C>T (p.Tyr99=)	SNV	Likely benign	792968		11:118183526-118183526	11:118312811-118312811
49	CD3E	NM_000733.3(CD3E):c.103C>T (p.Pro35Ser)	SNV	Benign/Likely benign	302661	rs143949187	11:118182885-118182885	11:118312170-118312170
50	CD3E	NM_000733.3(CD3E):c.498G>A (p.Ala166=)	SNV	Benign/Likely benign	35806	rs78373007	11:118184567-118184567	11:118313852-118313852

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Expression for Immunodeficiency 18

Search GEO for disease gene expression data for Immunodeficiency 18.

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Pathways for Immunodeficiency 18

Pathways related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

(show all 43)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.17	CD3G CD3E CD3D CD247
2	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	13.13	CD3G CD3E CD3D CD247
3	CREB Pathway ⁶³ Show member pathways Activation of PKC through GPCR ⁶³ Intracellular Calcium Signaling ⁶³ IP3 Pathway ⁶³	13.07	CD3G CD3E CD3D CD247
4	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.87	CD3G CD3E CD3D CD247
5	Toll-like Receptor Signaling Pathway ³⁶ ¹ Show member pathways Chagas disease (American trypanosomiasis) ³⁶ Hepatitis B ³⁶ Hepatitis C ³⁶ Regulation of toll-like receptor signaling pathway ¹	12.85	CD3G CD3E CD3D CD247
6	Actin Nucleation by ARP-WASP Complex ⁶³ Show member pathways Actin Nucleation and Branching ⁶³ CDC42 Pathway ⁶³ RhoA Pathway ⁶³	12.78	CD3G CD3E CD3D CD247
7	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.75	CD3G CD3E CD3D CD247
8	TCR Signaling (Qiagen) ⁶³ Show member pathways ITK and TCR Signaling ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.73	CD3G CD3E CD3D CD247
9	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.7	CD3G CD3E CD3D CD247
10	Allograft rejection ¹ ³⁶ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.68	CD3G CD3E CD3D CD247
11	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.68	CD3G CD3E CD3D CD247
12	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.64	CD3G CD3E CD3D CD247
13	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	12.48	CD3G CD3E CD3D CD247
14	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	12.45	CD3G CD3E CD3D CD247
15	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	12.44	CD3G CD3E CD3D CD247
16	NF-kappaB Signaling ⁴	12.37	TAL1 RAG1 CD3E
17	Antigen processing-Cross presentation ⁶⁵ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁵ Endosomal/Vacuolar pathway ⁶⁵ ER-Phagosome pathway ⁶⁵ Immune response Antigen presentation by MHC class I ²²	12.35	CD3G CD3E CD3D CD247
18	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.28	CD3G CD3E CD3D
19	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.27	CD3G CD3E CD3D CD247
20	TCR signaling (REACTOME) ⁶⁵ Show member pathways TCR signaling ⁶⁵	12.23	CD3G CD3E CD3D CD247
21	Human T-cell leukemia virus 1 infection ³⁶	12.18	CD3G CD3E CD3D
22	CD28 co-stimulation ⁶⁵ Show member pathways Activation of AKT2 ⁶⁵ CD28 dependent PI3K/Akt signaling ⁶⁵ CD28 dependent Vav1 pathway ⁶⁵ Costimulation by the CD28 family ⁶⁵ VEGFR2 mediated vascular permeability ⁶⁵	12.11	CD3G CD3E CD3D CD247
23	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.97	CD3G CD3E CD3D CD247
24	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.91	CD3G CD3E CD3D CD247
25	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.86	CD3G CD3E CD3D CD247
26	Reelin Pathway (Cajal-Retzius cells) ⁶³	11.85	CD3G CD3E CD3D CD247
27	S-1P Stimulated Signaling ⁶³	11.84	CD3G CD3E CD3D CD247
28	Translocation of ZAP-70 to Immunological synapse ⁶⁵ Show member pathways Generation of second messenger molecules ⁶⁵ PD-1 signaling ⁶⁵ Phosphorylation of CD3 and TCR zeta chains ⁶⁵	11.83	CD3G CD3E CD3D CD247
29	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.81	CD3G CD3E CD3D CD247
30	Hematopoietic cell lineage ³⁶	11.8	CD3G CD3E CD3D
31	NF-kB(NFkB) Pathway ⁶⁶	11.69	CD3G CD3E
32	CXCR4-mediated signaling events ¹	11.61	CD3G CD3E CD3D CD247
33	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.57	CD3G CD3E CD3D CD247
34	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶³ Show member pathways TOB in T-Cell Signaling ⁶³	11.52	CD3G CD3E CD3D CD247
35	CTLA4 Signaling ⁶³	11.52	CD3G CD3E CD3D CD247
36	Role of phospholipids in phagocytosis ⁶⁵ Show member pathways FCGR activation ⁶⁵	11.43	CD3G CD247
37	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.42	CD3G CD3E CD3D CD247
38	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.41	CD3G CD3E CD3D CD247
39	Primary immunodeficiency ³⁶	11.33	RAG1 CD3E CD3D
40	G-protein signaling_Rap1A regulation pathway ²²	11.26	CD3G CD3E CD3D CD247
41	OX40 Pathway ⁶³	11.08	CD3E CD247
42	Nur77 Signaling in T-Cell ⁶³	10.8	CD3G CD3E CD3D CD247
43	IL12 signaling mediated by STAT4 ¹	10.37	CD3G CD3E CD3D CD247

Sources

GO Terms for Immunodeficiency 18

Cellular components related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	9.43	CD3G CD3E CD3D
2	T cell receptor complex	GO:0042101	9.26	CD3G CD3E CD3D CD247
3	clathrin-coated vesicle membrane	GO:0030665	9.16	CD3G CD3D
4	alpha-beta T cell receptor complex	GO:0042105	8.92	CD3G CD3E CD3D CD247

Biological processes related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.73	CD3G CD3E CD3D CD247
2	cell surface receptor signaling pathway	GO:0007166	9.67	CD3G CD3E CD3D CD247
3	regulation of immune response	GO:0050776	9.62	CD3G CD3E CD3D CD247
4	T cell activation	GO:0042110	9.48	CD3G CD3E
5	T cell differentiation in thymus	GO:0033077	9.46	RAG1 CD3E
6	T cell receptor signaling pathway	GO:0050852	9.46	CD3G CD3E CD3D CD247
7	T cell differentiation	GO:0030217	9.43	CD3G CD3E CD3D
8	negative regulation of thymocyte apoptotic process	GO:0070244	9.4	RAG1 PTCRA
9	adaptive immune response	GO:0002250	9.35	RAG1 CD3G CD3E CD3D CD247
10	positive thymic T cell selection	GO:0045059	8.8	CD3G CD3E CD3D

Molecular functions related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.55	RAG1 CD3G CD3E CD3D CD247
2	protein heterodimerization activity	GO:0046982	9.5	CD3G CD3E CD3D
3	receptor signaling complex scaffold activity	GO:0030159	9.26	CD3G CD3E
4	T cell receptor binding	GO:0042608	8.96	CD3G CD3E
5	transmembrane signaling receptor activity	GO:0004888	8.92	CD3G CD3E CD3D CD247

Sources

Sources for Immunodeficiency 18

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Immunodeficiency 18 (IMD18)

Aliases & Classifications for Immunodeficiency 18

MalaCards integrated aliases for Immunodeficiency 18:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 18

Related Diseases for Immunodeficiency 18

Diseases related to Immunodeficiency 18 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Immunodeficiency 18:

Symptoms & Phenotypes for Immunodeficiency 18

Human phenotypes related to Immunodeficiency 18:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Immunodeficiency 18:

Drugs & Therapeutics for Immunodeficiency 18

Genetic Tests for Immunodeficiency 18

Genetic tests related to Immunodeficiency 18:

Anatomical Context for Immunodeficiency 18

MalaCards organs/tissues related to Immunodeficiency 18:

Publications for Immunodeficiency 18

Articles related to Immunodeficiency 18:

Genes for Immunodeficiency 18

Genes related to Immunodeficiency 18 (1 elite genes):

Variations for Immunodeficiency 18

ClinVar genetic disease variations for Immunodeficiency 18:

Expression for Immunodeficiency 18

Pathways for Immunodeficiency 18

Pathways related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 18

Cellular components related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 18 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 18