Immunodeficiency 19 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IMD19 MCID: IMM081 MIFTS: 44	Immunodeficiency 19 (IMD19) Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ⁷¹

Cd3-Delta Deficiency ⁵⁷ ¹² ⁷³

Imd19 ⁵⁷ ¹² ⁷³

Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁷ ¹²

Cd3delta Deficiency ¹² ¹⁵

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency ⁷³

Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁷

Scid T Cell-Negative, B Cell-Positive, Nk Cell-Positive ¹²

T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid ⁷³

Immunodeficiency, Type 19 ³⁹

Cd3d ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy without bone marrow transplantation

HPO:

³¹

immunodeficiency 19:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases Infectious diseases
Anatomical: Immune diseases Respiratory diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060016 DOID:0111972

OMIM® ⁵⁷ 615617

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ D007153

MedGen ⁴¹ C3810147 CN184331

SNOMED-CT via HPO ⁶⁸ 234532001 258211005 267060006 more

UMLS ⁷¹ C3810147

Sources

Summaries for Immunodeficiency 19

OMIM® : ⁵⁷ Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). (615617) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 19, also known as cd3-delta deficiency, is related to granulomatous disease, chronic, autosomal recessive, 3 and immunodeficiency 17, and has symptoms including diarrhea An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule), and among its related pathways/superpathways are Phospholipase-C Pathway and TCR Signaling (Qiagen). Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are failure to thrive and recurrent respiratory infections

Disease Ontology : ¹² A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has material basis in homozygous or compound heterozygous mutation in CD3D on chromosome 11q23.3.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 19: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.

Sources

Related Diseases for Immunodeficiency 19

Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)

#	Related Disease	Score	Top Affiliating Genes
1	granulomatous disease, chronic, autosomal recessive, 3	31.4	CD3G CD3D
2	immunodeficiency 17	31.2	ZAP70 CD3G CD3D
3	cd3zeta deficiency	31.2	CD3G CD3D CD247
4	immunodeficiency 18	31.1	CD3G CD3D CD247
5	coronin-1a deficiency	31.1	DOCK2 CORO1A CD3D
6	reticular dysgenesis	30.6	PNP CD3D ADA
7	adenosine deaminase deficiency	30.6	PNP CD3D ADA
8	omenn syndrome	29.7	ZAP70 PNP CORO1A CD3G CD3D ADA
9	leukemia, acute lymphoblastic	28.8	ZAP70 PNP CD247 ADA
10	immune deficiency disease	28.8	ZAP70 PNP CD247 ADA
11	severe combined immunodeficiency	28.0	ZAP70 PNP CORO1A CD3G CD3D CD247
12	combined immunodeficiency	27.6	ZAP70 PNP DOCK2 CORO1A CD3G CD3D
13	immunodeficiency 49	12.1
14	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive	11.0
15	aplastic anemia	11.0
16	immunodeficiency 11b with atopic dermatitis	10.9
17	t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	10.0	CD3D CD247
18	immunodeficiency 40	10.0	DOCK2 CORO1A
19	melioidosis	9.9
20	cutaneous leishmaniasis	9.9
21	bladder cancer	9.9
22	breast cancer	9.9
23	type 1 diabetes mellitus	9.9
24	leukemia, acute myeloid	9.9
25	leukemia	9.9
26	acute leukemia	9.9
27	colon adenocarcinoma	9.9
28	t-cell acute lymphoblastic leukemia	9.9
29	myeloid leukemia	9.9
30	prolymphocytic leukemia	9.8	ZAP70 ADA
31	t cell deficiency	9.8	ZAP70 CORO1A CD247
32	lesch-nyhan syndrome	9.5	PNP ADA
33	lymphopenia	9.5	DOCK2 CORO1A CD3G ADA
34	bare lymphocyte syndrome, type ii	9.5	ZAP70 PNP
35	purine nucleoside phosphorylase deficiency	9.5	ZAP70 PNP ADA
36	common variable immunodeficiency	9.2	ZAP70 PNP CD247 ADA
37	t-cell lymphoblastic leukemia/lymphoma	9.1	ZAP70 PTCRA PNP CD3G ADA
38	leukemia, chronic lymphocytic	9.1	ZAP70 PNP CD247 ADA

Graphical network of the top 20 diseases related to Immunodeficiency 19:

Sources

Symptoms & Phenotypes for Immunodeficiency 19

Human phenotypes related to Immunodeficiency 19:

³¹ (show all 6)

#	Description	HPO Source Accession
1	failure to thrive ³¹	HP:0001508
2	recurrent respiratory infections ³¹	HP:0002205
3	immunodeficiency ³¹	HP:0002721
4	recurrent otitis media ³¹	HP:0000403
5	lymphopenia ³¹	HP:0001888
6	diarrhea ³¹	HP:0002014

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea
gastroenteritis

Head And Neck Ears:
otitis media, recurrent

Immunology:
lymphopenia
primary immunodeficiency
normal b cells
normal nk cells
recurrent infections, bacterial, viral, and fungal
more

Respiratory:
respiratory infections, recurrent

Head And Neck Mouth:
thrush

Clinical features from OMIM®:

615617 (Updated 05-Mar-2021)

UMLS symptoms related to Immunodeficiency 19:

diarrhea

MGI Mouse Phenotypes related to Immunodeficiency 19:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.8	ADA CD247 CD3G CORO1A DOCK2 PNP
2	endocrine/exocrine gland	MP:0005379	9.7	ADA CD247 CD3G CORO1A PNP PTCRA
3	hematopoietic system	MP:0005397	9.65	ADA ATP5MG CD247 CD3D CD3G CORO1A
4	immune system	MP:0005387	9.32	ADA ATP5MG CD247 CD3D CD3G CORO1A

Sources

Drugs & Therapeutics for Immunodeficiency 19

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 19

Sources

Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 19 ²⁹	CD3D

Sources

Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

⁴⁰

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

Sources

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

#	Title	Authors	PMID	Year
1	Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. ⁶ ⁵⁷	Yu GP...Cowan MJ	21883749	2011
2	A leaky mutation in CD3D differentially affects αβ and γδ T cells and leads to a Tαβ-Tγδ+B+NK+ human SCID. ⁵⁷ ⁶	Gil J...Regueiro JR	21926461	2011
3	Effect of CD3delta deficiency on maturation of alpha/beta and gamma/delta T-cell lineages in severe combined immunodeficiency. ⁶ ⁵⁷	Dadi HK...Roifman CM	14602880	2003
4	Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. ⁵⁷	de Saint Basile G...Le Deist F	15546002	2004
5	CD3delta couples T-cell receptor signalling to ERK activation and thymocyte positive selection. ⁶	Delgado P...Alarcon B	10935641	2000
6	Acute hypoxemic respiratory failure in children following bone marrow transplantation: an outcome and pathologic study. ⁶¹	Bojko T...Godwin T	7712767	1995

Sources

Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CD3D	CD3d Molecule	Protein Coding	1025.79	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	14602880 10935641 21883749
2	ATP5MG	ATP Synthase Membrane Subunit G	Protein Coding	400	Pathogenic ⁶
3	CD3G	CD3g Molecule	Protein Coding	7.28	DISEASES inferred ¹⁵
4	CORO1A	Coronin 1A	Protein Coding	5.91	DISEASES inferred ¹⁵
5	PTCRA	Pre T Cell Antigen Receptor Alpha	Protein Coding	5.72	DISEASES inferred ¹⁵
6	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	5.41	DISEASES inferred ¹⁵
7	DOCK2	Dedicator Of Cytokinesis 2	Protein Coding	5.33	DISEASES inferred ¹⁵
8	ADA	Adenosine Deaminase	Protein Coding	5.28	DISEASES inferred ¹⁵
9	PNP	Purine Nucleoside Phosphorylase	Protein Coding	5.05	DISEASES inferred ¹⁵
10	CD247	CD247 Molecule	Protein Coding	4.97	DISEASES inferred ¹⁵

Sources

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

⁶ (show all 43)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CD3D	NM_000732.4(CD3D):c.202C>T (p.Arg68Ter)	SNV	Pathogenic	12747	rs111033580	11:118211162-118211162	11:118340447-118340447
2	CD3D	NM_001040651.2(CD3D):c.275-408C>A	SNV	Pathogenic	12748	rs111033581	11:118210617-118210617	11:118339902-118339902
3	CD3D	NM_000732.4(CD3D):c.274+5G>A	SNV	Pathogenic	180674	rs730880296	11:118211085-118211085	11:118340370-118340370
4	CD3D	NM_000732.4(CD3D):c.128G>A (p.Trp43Ter)	SNV	Pathogenic	643120	rs1591278347	11:118211236-118211236	11:118340521-118340521
5	ATP5MG	NC_000011.9:g.(?_117856768)_(118972385_?)del	Deletion	Pathogenic	831101		11:117856768-118972385
6	CD3D	NM_000732.6(CD3D):c.317G>A (p.Gly106Asp)	SNV	Uncertain significance	840028		11:118210579-118210579	11:118339864-118339864
7	CD3D	NM_000732.6(CD3D):c.247G>A (p.Glu83Lys)	SNV	Uncertain significance	842296		11:118211117-118211117	11:118340402-118340402
8	CD3D	NM_000732.4(CD3D):c.274+4C>T	SNV	Uncertain significance	302671	rs201299420	11:118211086-118211086	11:118340371-118340371
9	CD3D	NM_000732.6(CD3D):c.262G>A (p.Val88Ile)	SNV	Uncertain significance	844932		11:118211102-118211102	11:118340387-118340387
10	CD3D	NM_000732.6(CD3D):c.114T>A (p.Asn38Lys)	SNV	Uncertain significance	845145		11:118211250-118211250	11:118340535-118340535
11	CD3D	NM_000732.6(CD3D):c.403G>A (p.Gly135Arg)	SNV	Uncertain significance	846720		11:118210493-118210493	11:118339778-118339778
12	CD3D	NM_000732.6(CD3D):c.112A>G (p.Asn38Asp)	SNV	Uncertain significance	848861		11:118211252-118211252	11:118340537-118340537
13	CD3D	NM_000732.6(CD3D):c.455T>C (p.Leu152Pro)	SNV	Uncertain significance	849523		11:118209938-118209938	11:118339223-118339223
14	CD3D	NM_000732.4(CD3D):c.416C>T (p.Thr139Ile)	SNV	Uncertain significance	420806	rs527584796	11:118210200-118210200	11:118339485-118339485
15	CD3D	NM_000732.6(CD3D):c.-8G>A	SNV	Uncertain significance	877885		11:118213330-118213330	11:118342615-118342615
16	CD3D	NM_000732.6(CD3D):c.-77G>A	SNV	Uncertain significance	877886		11:118213399-118213399	11:118342684-118342684
17	CD3D	NM_000732.6(CD3D):c.450+7G>T	SNV	Uncertain significance	879824		11:118210159-118210159	11:118339444-118339444
18	CD3D	NM_000732.6(CD3D):c.457C>T (p.Arg153Ter)	SNV	Uncertain significance	940758		11:118209936-118209936	11:118339221-118339221
19	CD3D	NM_000732.6(CD3D):c.356C>T (p.Ala119Val)	SNV	Uncertain significance	952605		11:118210540-118210540	11:118339825-118339825
20	CD3D	NM_000732.6(CD3D):c.505C>T (p.Arg169Trp)	SNV	Uncertain significance	962292		11:118209888-118209888	11:118339173-118339173
21	CD3D	NM_000732.6(CD3D):c.382C>A (p.His128Asn)	SNV	Uncertain significance	970636		11:118210514-118210514	11:118339799-118339799
22	CD3D	NM_000732.4(CD3D):c.440A>G (p.Gln147Arg)	SNV	Uncertain significance	645619	rs45510201	11:118210176-118210176	11:118339461-118339461
23	CD3D	NM_000732.4(CD3D):c.457C>G (p.Arg153Gly)	SNV	Uncertain significance	653087	rs201994476	11:118209936-118209936	11:118339221-118339221
24	CD3D	NM_000732.4(CD3D):c.211T>C (p.Tyr71His)	SNV	Uncertain significance	656796	rs377725940	11:118211153-118211153	11:118340438-118340438
25	CD3D	NM_000732.4(CD3D):c.60C>G (p.Ser20Arg)	SNV	Uncertain significance	658379	rs529268621	11:118211304-118211304	11:118340589-118340589
26	CD3D	NM_000732.4(CD3D):c.-46T>C	SNV	Uncertain significance	302675	rs886047740	11:118213368-118213368	11:118342653-118342653
27	CD3D	NM_000732.4(CD3D):c.121A>G (p.Ile41Val)	SNV	Uncertain significance	302672	rs886047737	11:118211243-118211243	11:118340528-118340528
28	CD3D	NM_000732.4(CD3D):c.510C>T (p.Asn170=)	SNV	Uncertain significance	302670	rs146997233	11:118209883-118209883	11:118339168-118339168
29	CD3D	NM_000732.4(CD3D):c.-93C>T	SNV	Uncertain significance	302676	rs772705529	11:118213415-118213415	11:118342700-118342700
30	CD3D	NM_000732.4(CD3D):c.-44G>A	SNV	Uncertain significance	302674	rs886047739	11:118213366-118213366	11:118342651-118342651
31	CD3D	NM_000732.4(CD3D):c.-128G>T	SNV	Uncertain significance	302677	rs200171722	11:118213450-118213450	11:118342735-118342735
32	CD3D	NM_000732.4(CD3D):c.76A>G (p.Ile26Val)	SNV	Uncertain significance	541672	rs201374139	11:118211288-118211288	11:118340573-118340573
33	CD3D	NM_000732.4(CD3D):c.418C>A (p.Gln140Lys)	SNV	Uncertain significance	541673	rs201126605	11:118210198-118210198	11:118339483-118339483
34	CD3D	NM_000732.4(CD3D):c.244A>G (p.Lys82Glu)	SNV	Uncertain significance	541674	rs1555119773	11:118211120-118211120	11:118340405-118340405
35	CD3D	NM_000732.4(CD3D):c.450+6C>T	SNV	Uncertain significance	35805	rs193922617	11:118210160-118210160	11:118339445-118339445
36	CD3D	NM_000732.4(CD3D):c.485A>T (p.His162Leu)	SNV	Uncertain significance	639952	rs1246867427	11:118209908-118209908	11:118339193-118339193
37	CD3D	NM_000732.4(CD3D):c.463C>T (p.Arg155Ter)	SNV	Uncertain significance	474829	rs777721098	11:118209930-118209930	11:118339215-118339215
38	CD3D	NM_000732.4(CD3D):c.52C>A (p.Gln18Lys)	SNV	Likely benign	541671	rs141902449	11:118213271-118213271	11:118342556-118342556
39	CD3D	NM_000732.4(CD3D):c.275-5C>T	SNV	Likely benign	742068	rs188697778	11:118210626-118210626	11:118339911-118339911
40	CD3D	NM_000732.4(CD3D):c.309C>T (p.Thr103=)	SNV	Likely benign	755525	rs777386322	11:118210587-118210587	11:118339872-118339872
41	CD3D	NM_000732.4(CD3D):c.202C>A (p.Arg68=)	SNV	Likely benign	761076	rs111033580	11:118211162-118211162	11:118340447-118340447
42	CD3D	NM_000732.4(CD3D):c.360G>A (p.Leu120=)	SNV	Likely benign	763721	rs150570955	11:118210536-118210536	11:118339821-118339821
43	CD3D	NM_000732.4(CD3D):c.*59C>T	SNV	Benign	302669	rs113271462	11:118209818-118209818	11:118339103-118339103

Sources

Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

Sources

Pathways for Immunodeficiency 19

Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 31)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶³ Show member pathways PTEN Pathway ⁶³	12.84	ZAP70 CD3G CD3D CD247
2	TCR Signaling (Qiagen) ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.71	ZAP70 CD3G CD3D CD247
3	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.69	DOCK2 CD3G CD3D CD247
4	Development Angiotensin activation of ERK ²³ Show member pathways Cell adhesion Integrin inside-out signaling ²³ Development ACM2 and ACM4 activation of ERK ²³ Development Angiotensin signaling via PYK2 ²³ Development EDNRB signaling ²³ Development EPO-induced MAPK pathway ²³ Development G-Proteins mediated regulation MARK-ERK signaling ²³ Signal transduction IP3 signaling ²³	12.65	ZAP70 CD3G CD3D CD247
5	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.46	ZAP70 CD3G CD3D CD247
6	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	12.42	ZAP70 CD3G CD3D CD247
7	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²³ Inflammatory bowel disease ³⁶ Th1 and Th2 cell differentiation ³⁶	12.41	ZAP70 CD3G CD3D CD247
8	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 ²³	12.27	CD3G CD3D CD247
9	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.24	ZAP70 CD3G CD3D
10	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.22	ZAP70 CD3G CD3D CD247
11	TCR signaling (REACTOME) ⁶⁵ Show member pathways Downstream TCR signaling ⁶⁵	12.17	ZAP70 CD3G CD3D CD247
12	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	12.04	CD3G CD3D CD247
13	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.92	CD3G CD3D CD247
14	purine nucleotides de novo biosynthesis ¹ Show member pathways adenosine ribonucleotides de novo biosynthesis ¹ guanosine nucleotides de novo biosynthesis ¹ guanosine ribonucleotides de novo biosynthesis ¹ superpathway of purine nucleotide salvage ¹	11.9	PNP ATP5MG ADA
15	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²³	11.82	CD3G CD3D CD247
16	S-1P Stimulated Signaling ⁶³	11.74	ZAP70 CD3G CD3D CD247
17	Reelin Pathway (Cajal-Retzius cells) ⁶³	11.74	ZAP70 CD3G CD3D CD247
18	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	11.71	ZAP70 CD3G CD3D CD247
19	Immune response Function of MEF2 in T lymphocytes ²³ Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²³	11.71	ZAP70 CD3G CD3D CD247
20	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.66	ZAP70 CD3G CD3D CD247
21	G-protein signaling N-RAS regulation pathway ²³ Show member pathways Immune response Antigen presentation by MHC class II ²³	11.63	CD3G CD3D CD247
22	CXCR4-mediated signaling events ¹	11.61	CD3G CD3D CD247
23	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.51	CD3G CD3D CD247
24	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶³ Show member pathways TOB in T-Cell Signaling ⁶³	11.47	CD3G CD3D CD247
25	Role of phospholipids in phagocytosis ⁶⁵ Show member pathways FCGR activation ⁶⁵	11.41	CD3G CD247
26	Signal transduction_Erk Interactions- Inhibition of Erk ²³	11.33	ZAP70 CD3G CD3D CD247
27	Primary immunodeficiency ³⁶	11.27	ZAP70 CD3D ADA
28	Nur77 Signaling in T-Cell ⁶³	11.2	CD3G CD3D CD247
29	CTLA4 Signaling ⁶³	11.11	ZAP70 CD3G CD3D CD247
30	IL12 signaling mediated by STAT4 ¹	11.03	CD3G CD3D CD247
31	G-protein signaling_Rap1A regulation pathway ²³	10.62	ZAP70 CD3G CD3D CD247

Sources

GO Terms for Immunodeficiency 19

Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.97	ZAP70 PTCRA DOCK2 CORO1A CD3G CD3D
2	clathrin-coated vesicle membrane	GO:0030665	9.26	CD3G CD3D
3	T cell receptor complex	GO:0042101	9.26	ZAP70 CD3G CD3D CD247
4	immunological synapse	GO:0001772	9.16	ZAP70 CORO1A
5	alpha-beta T cell receptor complex	GO:0042105	8.8	CD3G CD3D CD247

Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	immune system process	GO:0002376	9.85	ZAP70 CD3G CD3D CD247
2	adaptive immune response	GO:0002250	9.78	ZAP70 CD3G CD3D CD247
3	cell surface receptor signaling pathway	GO:0007166	9.73	CD3G CD3D CD247
4	regulation of immune response	GO:0050776	9.71	CD3G CD3D CD247
5	positive regulation of T cell proliferation	GO:0042102	9.57	PNP CORO1A
6	T cell receptor signaling pathway	GO:0050852	9.56	ZAP70 CD3G CD3D CD247
7	regulation of defense response to virus by virus	GO:0050690	9.52	DOCK2 CD247
8	positive regulation of T cell activation	GO:0050870	9.51	CORO1A ADA
9	positive regulation of T cell differentiation	GO:0045582	9.49	ZAP70 ADA
10	positive regulation of calcium-mediated signaling	GO:0050850	9.46	ZAP70 ADA
11	purine-containing compound salvage	GO:0043101	9.43	PNP ADA
12	immunological synapse formation	GO:0001771	9.4	DOCK2 CORO1A
13	negative thymic T cell selection	GO:0045060	9.37	ZAP70 DOCK2
14	positive regulation of alpha-beta T cell differentiation	GO:0046638	9.33	ZAP70 PNP ADA
15	negative regulation of thymocyte apoptotic process	GO:0070244	9.32	PTCRA ADA
16	T cell activation	GO:0042110	9.26	ZAP70 DOCK2 CD3G ADA
17	positive thymic T cell selection	GO:0045059	8.92	ZAP70 DOCK2 CD3G CD3D

Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.55	PNP CORO1A CD3G CD3D CD247
2	transmembrane signaling receptor activity	GO:0004888	9.13	CD3G CD3D CD247
3	T cell receptor binding	GO:0042608	8.62	DOCK2 CD3G

Sources

Sources for Immunodeficiency 19

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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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 19 (IMD19)

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 19

Related Diseases for Immunodeficiency 19

Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Immunodeficiency 19:

Symptoms & Phenotypes for Immunodeficiency 19

Human phenotypes related to Immunodeficiency 19:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Immunodeficiency 19:

MGI Mouse Phenotypes related to Immunodeficiency 19:

Drugs & Therapeutics for Immunodeficiency 19

Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

Publications for Immunodeficiency 19

Articles related to Immunodeficiency 19:

Genes for Immunodeficiency 19

Genes related to Immunodeficiency 19 (2 elite genes):

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

Expression for Immunodeficiency 19

Pathways for Immunodeficiency 19

Pathways related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 19

Cellular components related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 19 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 19