HIGM3
MCID: IMM105
MIFTS: 48

Immunodeficiency with Hyper-Igm, Type 3 (HIGM3)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 3

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 3:

Name: Immunodeficiency with Hyper-Igm, Type 3 57 13
Higm3 57 20 58 72 54
Immunodeficiency with Hyper Igm Type 3 12 20 15
Hyper-Igm Syndrome Type 3 58 29 6
Hyper-Igm Syndrome Due to Cd40 Deficiency 12 58
Hyper-Igm Syndrome 3 57 72
Hyper-Igm Immunodeficiency Syndrome, Type 3 70
Immunodeficiency, with Hyper Igm, Type 3 39
Type 3 Hyper-Igm Immunodeficiency 12
Immunodeficiency with Hyper-Igm 3 72
Hyper-Igm Immunodeficiency Type 3 72
Hyper Igm Syndrome 3 20
Cd40 Deficiency 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
increased susceptibility to bacterial and opportunistic infections, such as pneumocystis carinii


HPO:

31
immunodeficiency with hyper-igm, type 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060023
OMIM® 57 606843
OMIM Phenotypic Series 57 PS308230
MeSH 44 D053306
NCIt 50 C84783
ICD10 via Orphanet 33 D80.5
UMLS via Orphanet 71 C1720957
Orphanet 58 ORPHA101090
MedGen 41 C1720957
UMLS 70 C1720957

Summaries for Immunodeficiency with Hyper-Igm, Type 3

Disease Ontology : 12 A hyper IgM syndrome that has material basis in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 3, also known as higm3, is related to light fixation seizure syndrome and immunodeficiency with hyper-igm, type 1. An important gene associated with Immunodeficiency with Hyper-Igm, Type 3 is CD40 (CD40 Molecule), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include b cells, lymph node and monocytes, and related phenotypes are immunodeficiency and neutropenia

OMIM® : 57 HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM. For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (606843) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Immunodeficiency with hyper-IgM 3: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 3

Diseases related to Immunodeficiency with Hyper-Igm, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 271)
# Related Disease Score Top Affiliating Genes
1 light fixation seizure syndrome 30.3 CD40LG CD40
2 immunodeficiency with hyper-igm, type 1 28.9 IKBKG ICOSLG CD8A CD40LG CD40 CD4
3 t cell deficiency 28.9 ICOSLG DOCK8 CD8A CD4
4 cd40 ligand deficiency 28.0 IKBKG ICOSLG DOCK8 CD8A CD40LG CD40
5 sulfamethoxazole allergy 10.4 CD40LG CD40
6 inflammatory bowel disease 16 10.3 CD40LG CD40
7 postinflammatory pulmonary fibrosis 10.3 CD86 CD80
8 immunodeficiency with hyper-igm, type 4 10.2 CD40LG CD40 AICDA
9 immunodeficiency with hyper-igm, type 5 10.2 CD40LG CD40 AICDA
10 agammaglobulinemia 10.2 ICOSLG CD40LG CD40
11 mulchandani-bhoj-conlin syndrome 10.2 ICOSLG CD40LG AICDA
12 myocarditis 10.2 CD86 CD40LG CD40
13 congenital syphilis 10.2 CD40LG CD4
14 erythema infectiosum 10.2 CD40LG CD4
15 polyradiculopathy 10.2 ICOSLG CD4
16 toxic shock syndrome 10.2 CD86 CD40LG CD40
17 sporotrichosis 10.2 CD40LG CD4
18 toxoplasmosis 10.2 TRAF6 CD40LG CD40
19 follicular lymphoma 10.2 CD80 CD40 AICDA
20 immunodeficiency 31c 10.1 CD86 CD80
21 lymphocytic choriomeningitis 10.1 ICOSLG CD86 CD80
22 lymphoma, hodgkin, classic 10.1 TRAF1 ICOSLG CD40
23 geotrichosis 10.1 CD40LG CD40 CD4
24 legume allergy 10.1 ICOSLG CD4
25 fruit allergy 10.1 ICOSLG CD4
26 immunodeficiency with hyper-igm, type 2 10.1 ICOSLG CD40LG CD40 AICDA
27 acute myocarditis 10.1 CD86 CD40 CD4
28 acute proliferative glomerulonephritis 10.1 ICOSLG CD4
29 autoimmune neuropathy 10.1 ICOSLG CD86 CD4
30 sialadenitis 10.0 ICOSLG CD80 CD4
31 acute maxillary sinusitis 10.0 CD8A AICDA
32 lymphohistiocytoid mesothelioma 10.0 CD8A CD86
33 suppurative lymphadenitis 10.0 DOCK8 CD4
34 lupus erythematosus 10.0 CD86 CD80 CD40LG CD40
35 chronic conjunctivitis 10.0 ICOSLG CD4
36 blepharoconjunctivitis 10.0 DOCK8 CD4
37 external ear disease 10.0 DOCK8 CD4
38 otitis externa 10.0 DOCK8 CD4
39 allergic disease 10.0 ICOSLG CD86 CD80 CD40
40 lung abscess 10.0 DOCK8 CD4
41 immunodeficiency 35 10.0 ICOSLG DOCK8
42 selective immunoglobulin deficiency disease 10.0 ICOSLG CD8A
43 immunodeficiency 27b 10.0 IKBKG DOCK8
44 agammaglobulinemia, x-linked 9.9 ICOSLG CD40LG CD40 CD4
45 hyper ige recurrent infection syndrome 1 9.9 DOCK8 CD4
46 dysgammaglobulinemia 9.9 ICOSLG CD8A
47 cork-handlers' disease 9.9 CD8A CD4
48 necrotic uveal melanoma 9.9 CD8A CD4
49 early yaws 9.9 CD8A CD4
50 ventilation pneumonitis 9.9 CD8A CD4

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 3:



Diseases related to Immunodeficiency with Hyper-Igm, Type 3

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 3

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 3:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 neutropenia 31 HP:0001875
3 decreased circulating iga level 31 HP:0002720
4 decreased circulating igg level 31 HP:0004315
5 recurrent bacterial infections 31 HP:0002718
6 increased circulating igm level 31 HP:0003496
7 absence of lymph node germinal center 31 HP:0002849
8 decreased circulating ige 31 HP:0005479
9 impaired memory b cell generation 31 HP:0002847
10 impaired ig class switch recombination 31 HP:0002959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
neutropenia

Immunology:
primary dysfunction of b-lymphocyte isotype switching and memory b-cell generation
lymph nodes lack germinal centers
normal or increased igm
serum iga, igg, and ige severely deficient

Clinical features from OMIM®:

606843 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 AICDA CD4 CD40LG CD80 CD86 CD8A
2 endocrine/exocrine gland MP:0005379 9.76 CD4 CD40 CD40LG CD80 CD86 CD8A
3 hematopoietic system MP:0005397 9.73 AICDA CD4 CD40 CD40LG CD80 CD86
4 immune system MP:0005387 9.4 AICDA CD4 CD40 CD40LG CD80 CD86

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 3

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 3

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 3

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 3:

# Genetic test Affiliating Genes
1 Hyper-Igm Syndrome Type 3 29 CD40

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 3

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 3:

40
B Cells, Lymph Node, Monocytes

Publications for Immunodeficiency with Hyper-Igm, Type 3

Articles related to Immunodeficiency with Hyper-Igm, Type 3:

(show all 16)
# Title Authors PMID Year
1
First report of successful stem cell transplantation in a child with CD40 deficiency. 57 6
17502893 2007
2
Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. 6 57
12584544 2003
3
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 57 6
11675497 2001
4
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. 6
20702779 2010
5
Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency. 57
12915844 2003
6
Hyper IgM syndrome: the other side of the coin. 57
11753101 2001
7
Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells. 57
9842907 1998
8
CD40-deficient mice generated by recombination-activating gene-2-deficient blastocyst complementation. 57
7527552 1994
9
The immune responses in CD40-deficient mice: impaired immunoglobulin class switching and germinal center formation. 57
7534202 1994
10
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features. 54 61
15661021 2005
11
Functional defects of dendritic cells in patients with CD40 deficiency. 61 54
12893749 2003
12
Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis. 54 61
14610488 2003
13
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. 61 54
12840068 2003
14
Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience. 61
29884852 2019
15
Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. 61
24122029 2013
16
Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression. 61
22443339 2012

Variations for Immunodeficiency with Hyper-Igm, Type 3

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 3:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD40 CD40, 455A-T, +5, EX5 SNV Pathogenic 17748 GRCh37:
GRCh38:
2 CD40 NM_001250.6(CD40):c.247T>C (p.Cys83Arg) SNV Pathogenic 17749 rs28931586 GRCh37: 20:44750988-44750988
GRCh38: 20:46122349-46122349
3 CD40 NM_001250.6(CD40):c.257-2A>T SNV Pathogenic 17750 rs1568906348 GRCh37: 20:44751247-44751247
GRCh38: 20:46122608-46122608
4 CD40 NM_001250.6(CD40):c.95_97TAA[1] (p.Ile33del) Microsatellite Pathogenic 29611 rs1568905451 GRCh37: 20:44750502-44750504
GRCh38: 20:46121863-46121865
5 CD40 NM_001250.6(CD40):c.256+2T>C SNV Pathogenic 439466 rs774195387 GRCh37: 20:44750999-44750999
GRCh38: 20:46122360-46122360
6 CD40 NM_001250.6(CD40):c.*676C>T SNV Uncertain significance 895950 GRCh37: 20:44758355-44758355
GRCh38: 20:46129716-46129716
7 CD40 NM_001250.6(CD40):c.*560C>T SNV Uncertain significance 895949 GRCh37: 20:44758239-44758239
GRCh38: 20:46129600-46129600
8 CD40 NM_001250.6(CD40):c.*372A>C SNV Uncertain significance 895948 GRCh37: 20:44758051-44758051
GRCh38: 20:46129412-46129412
9 CD40 NM_001250.6(CD40):c.750A>G (p.Pro250=) SNV Uncertain significance 618003 rs376780996 GRCh37: 20:44757595-44757595
GRCh38: 20:46128956-46128956
10 CD40 NM_001250.5(CD40):c.-61G>T SNV Uncertain significance 338566 rs542745249 GRCh37: 20:44746922-44746922
GRCh38: 20:46118283-46118283
11 CD40 NM_001250.6(CD40):c.*677G>A SNV Uncertain significance 338586 rs370599881 GRCh37: 20:44758356-44758356
GRCh38: 20:46129717-46129717
12 CD40 NM_001250.6(CD40):c.339T>C (p.Ser113=) SNV Uncertain significance 338572 rs886056717 GRCh37: 20:44751331-44751331
GRCh38: 20:46122692-46122692
13 CD40 NM_001250.5(CD40):c.-55C>G SNV Uncertain significance 338567 rs573086622 GRCh37: 20:44746928-44746928
GRCh38: 20:46118289-46118289
14 CD40 NM_001250.6(CD40):c.397C>T (p.Gln133Ter) SNV Uncertain significance 631877 rs1460849632 GRCh37: 20:44751389-44751389
GRCh38: 20:46122750-46122750
15 CD40 NM_001250.6(CD40):c.381C>T (p.Pro127=) SNV Uncertain significance 496127 rs763263083 GRCh37: 20:44751373-44751373
GRCh38: 20:46122734-46122734
16 CD40 NM_001250.6(CD40):c.*310C>G SNV Uncertain significance 338582 rs886056720 GRCh37: 20:44757989-44757989
GRCh38: 20:46129350-46129350
17 CD40 NM_001250.6(CD40):c.*547A>T SNV Uncertain significance 338585 rs184942163 GRCh37: 20:44758226-44758226
GRCh38: 20:46129587-46129587
18 CD40 NM_001250.6(CD40):c.256+8C>T SNV Uncertain significance 338571 rs775430615 GRCh37: 20:44751005-44751005
GRCh38: 20:46122366-46122366
19 CD40 NM_001250.6(CD40):c.*178G>A SNV Uncertain significance 338580 rs565941222 GRCh37: 20:44757857-44757857
GRCh38: 20:46129218-46129218
20 CD40 NM_001250.6(CD40):c.*85G>T SNV Uncertain significance 338577 rs886056718 GRCh37: 20:44757764-44757764
GRCh38: 20:46129125-46129125
21 CD40 NC_000020.11:g.46118277G>T SNV Uncertain significance 895885 GRCh37: 20:44746916-44746916
GRCh38: 20:46118277-46118277
22 CD40 NM_001250.6(CD40):c.249C>T (p.Cys83=) SNV Uncertain significance 896159 GRCh37: 20:44750990-44750990
GRCh38: 20:46122351-46122351
23 CD40 NM_001250.6(CD40):c.311C>T (p.Thr104Ile) SNV Uncertain significance 897759 GRCh37: 20:44751303-44751303
GRCh38: 20:46122664-46122664
24 CD40 NM_001250.6(CD40):c.379C>T (p.Pro127Ser) SNV Uncertain significance 897760 GRCh37: 20:44751371-44751371
GRCh38: 20:46122732-46122732
25 CD40 NM_001250.6(CD40):c.444C>T (p.Val148=) SNV Uncertain significance 750493 rs745496687 GRCh37: 20:44751805-44751805
GRCh38: 20:46123166-46123166
26 CD40 NM_001250.6(CD40):c.498-7T>C SNV Uncertain significance 897761 GRCh37: 20:44755272-44755272
GRCh38: 20:46126633-46126633
27 CD40 NM_001250.6(CD40):c.622A>G (p.Ile208Val) SNV Uncertain significance 898906 GRCh37: 20:44756839-44756839
GRCh38: 20:46128200-46128200
28 CD40 NM_001250.6(CD40):c.621C>T (p.Ala207=) SNV Likely benign 897762 GRCh37: 20:44756838-44756838
GRCh38: 20:46128199-46128199
29 CD40 NM_001250.6(CD40):c.52-15C>T SNV Likely benign 338570 rs187683423 GRCh37: 20:44750444-44750444
GRCh38: 20:46121805-46121805
30 CD40 NM_001250.6(CD40):c.717C>T (p.Pro239=) SNV Likely benign 714820 rs144466131 GRCh37: 20:44757562-44757562
GRCh38: 20:46128923-46128923
31 CD40 NM_001250.6(CD40):c.679C>G (p.Pro227Ala) SNV Benign 338576 rs11086998 GRCh37: 20:44757524-44757524
GRCh38: 20:46128885-46128885
32 CD40 NM_001250.6(CD40):c.403+20A>G SNV Benign 377634 rs11699100 GRCh37: 20:44751415-44751415
GRCh38: 20:46122776-46122776
33 CD40 NM_001250.6(CD40):c.371C>T (p.Ser124Leu) SNV Benign 338573 rs11569321 GRCh37: 20:44751363-44751363
GRCh38: 20:46122724-46122724
34 CD40 NM_001250.6(CD40):c.606C>T (p.Phe202=) SNV Benign 338574 rs7273698 GRCh37: 20:44756823-44756823
GRCh38: 20:46128184-46128184
35 CD40 NM_001250.6(CD40):c.559+36G>C SNV Benign 993383 GRCh37: 20:44755376-44755376
GRCh38: 20:46126737-46126737
36 CD40 NM_001250.6(CD40):c.-1T>C SNV Benign 338569 rs1883832 GRCh37: 20:44746982-44746982
GRCh38: 20:46118343-46118343
37 CD40 NM_001250.6(CD40):c.*316G>C SNV Benign 338583 rs11569344 GRCh37: 20:44757995-44757995
GRCh38: 20:46129356-46129356
38 CD40 NM_001250.5(CD40):c.-41C>T SNV Benign 338568 rs11569301 GRCh37: 20:44746942-44746942
GRCh38: 20:46118303-46118303
39 CD40 NM_001250.6(CD40):c.*135C>G SNV Benign 338579 rs11569343 GRCh37: 20:44757814-44757814
GRCh38: 20:46129175-46129175

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 3:

72
# Symbol AA change Variation ID SNP ID
1 CD40 p.Cys83Arg VAR_013628 rs28931586
2 CD40 p.Cys37Gly VAR_077569

Expression for Immunodeficiency with Hyper-Igm, Type 3

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 3.

Pathways for Immunodeficiency with Hyper-Igm, Type 3

Pathways related to Immunodeficiency with Hyper-Igm, Type 3 according to GeneCards Suite gene sharing:

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 TRAF6 IKBKG ICOSLG CD8A CD86 CD80
2
Show member pathways
13.36 TRAF6 IKBKG ICOSLG CD8A CD86 CD80
3
Show member pathways
13.3 TRAF6 IKBKG CD80 CD40LG CD40 CD4
4
Show member pathways
13.26 TRAF6 IKBKG CD86 CD80 CD40LG CD40
5
Show member pathways
13.1 TRAF6 IKBKG CD86 CD80 CD40LG CD40
6
Show member pathways
12.96 TRAF6 TRAF5 TRAF1 IKBKG CD4
7
Show member pathways
12.85 TRAF6 TRAF5 IKBKG CD86 CD4
8
Show member pathways
12.83 IKBKG CD8A CD86 CD80 CD4
9
Show member pathways
12.71 ICOSLG CD8A CD86 CD80 CD40LG CD40
10
Show member pathways
12.64 TRAF6 TRAF5 TRAF1 IKBKG CD40LG CD40
11
Show member pathways
12.58 IKBKG ICOSLG CD86 CD80 CD40LG CD40
12
Show member pathways
12.57 TRAF6 TRAF5 TRAF1 IKBKG CD40LG CD40
13
Show member pathways
12.54 TRAF6 TRAF5 TRAF1 IKBKG CD40LG CD40
14
Show member pathways
12.53 TRAF6 IKBKG CD8A CD40LG CD4
15 12.46 TRAF6 TRAF5 TRAF1 IKBKG CD8A CD40LG
16
Show member pathways
12.35 TRAF6 TRAF5 TRAF1 IKBKG
17
Show member pathways
12.25 IKBKG ICOSLG CD86 CD80 CD40LG CD40
18
Show member pathways
12.21 TRAF6 IKBKG CD40LG CD40
19 12.19 TRAF6 TRAF5 TRAF1 CD40LG
20
Show member pathways
12.15 ICOSLG CD86 CD80 CD4
21 12.04 TRAF6 IKBKG CD8A CD4
22 11.99 CD8A CD40LG CD40
23 11.95 CD8A CD86 CD80 CD4
24
Show member pathways
11.9 TRAF6 CD8A CD4
25 11.9 TRAF5 TRAF1 IKBKG
26 11.83 TRAF6 TRAF5 TRAF1 IKBKG
27
Show member pathways
11.8 CD86 CD80 CD4
28
Show member pathways
11.77 TRAF6 IKBKG CD8A CD86 CD80 CD4
29
Show member pathways
11.72 TRAF6 TRAF5 IKBKG CD40LG CD40
30 11.71 CD8A CD86 CD80 CD4
31
Show member pathways
11.7 CD86 CD80 CD4
32 11.67 ICOSLG CD8A CD86 CD80 CD40LG CD40
33 11.65 TRAF6 TRAF5 TRAF1 IKBKG CD40LG CD40
34 11.63 ICOSLG CD40LG CD40
35 11.46 CD86 CD80 CD4
36 11.33 CD86 CD80 CD40LG CD40
37 11.27 TRAF6 TRAF1 CD40LG CD40
38 11.13 TRAF6 TRAF1 IKBKG
39 11.07 TRAF6 IKBKG
40 11.05 TRAF6 IKBKG
41 10.75 TRAF6 IKBKG
42 10.68 IKBKG CD8A CD40LG CD40 CD4 AICDA
43 10.61 IKBKG CD40

GO Terms for Immunodeficiency with Hyper-Igm, Type 3

Cellular components related to Immunodeficiency with Hyper-Igm, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.72 CD86 CD80 CD40LG CD40 CD4
2 cytoplasmic side of plasma membrane GO:0009898 9.43 TRAF6 TRAF5 TRAF1
3 CD40 receptor complex GO:0035631 9.33 TRAF6 TRAF5 CD40
4 external side of plasma membrane GO:0009897 9.17 ICOSLG CD8A CD86 CD80 CD40LG CD40
5 plasma membrane receptor complex GO:0098802 9.13 TRAF6 TRAF5 TRAF1

Biological processes related to Immunodeficiency with Hyper-Igm, Type 3 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.01 TRAF6 ICOSLG CD8A CD86 CD40 CD4
2 adaptive immune response GO:0002250 9.92 ICOSLG CD8A CD86 CD4
3 cell surface receptor signaling pathway GO:0007166 9.89 CD8A CD86 CD80 CD4
4 cytokine-mediated signaling pathway GO:0019221 9.88 TRAF6 CD86 CD80 CD4
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.88 TRAF6 TRAF5 IKBKG CD40 CD4
6 T cell receptor signaling pathway GO:0050852 9.86 TRAF6 IKBKG ICOSLG CD4
7 cellular response to lipopolysaccharide GO:0071222 9.83 TRAF6 CD86 CD80 CD40
8 immune response GO:0006955 9.8 TRAF6 IKBKG CD8A CD86 CD80 CD40LG
9 protein-containing complex assembly GO:0065003 9.77 TRAF1 IKBKG CD40
10 tumor necrosis factor-mediated signaling pathway GO:0033209 9.77 TRAF6 TRAF5 TRAF1 CD40LG CD40
11 T cell costimulation GO:0031295 9.76 ICOSLG CD86 CD80 CD40LG
12 positive regulation of JNK cascade GO:0046330 9.75 TRAF6 TRAF5 TRAF1
13 T cell activation GO:0042110 9.74 ICOSLG CD8A CD4
14 protein K63-linked ubiquitination GO:0070534 9.72 TRAF6 TRAF5 TRAF1
15 positive regulation of interleukin-12 production GO:0032735 9.69 TRAF6 CD40LG CD40
16 B cell activation GO:0042113 9.67 ICOSLG CD86 CD40
17 positive regulation of endothelial cell apoptotic process GO:2000353 9.62 CD40LG CD40
18 positive regulation of interleukin-2 production GO:0032743 9.62 TRAF6 CD86 CD80 CD4
19 positive regulation of interleukin-4 production GO:0032753 9.61 CD86 CD40LG
20 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.61 TRAF6 IKBKG
21 CD40 signaling pathway GO:0023035 9.61 CD86 CD40LG CD40
22 regulation of immunoglobulin production GO:0002637 9.58 TRAF6 CD40LG CD40
23 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.46 TRAF6 TRAF5 TRAF1 IKBKG
24 positive regulation of T cell proliferation GO:0042102 9.35 TRAF6 CD86 CD80 CD40LG CD4
25 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.1 TRAF6 TRAF5 TRAF1 IKBKG CD40LG CD40

Molecular functions related to Immunodeficiency with Hyper-Igm, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.87 TRAF6 TRAF5 TRAF1 IKBKG ICOSLG CD4
2 zinc ion binding GO:0008270 9.8 TRAF6 TRAF5 TRAF1 CD4 AICDA
3 virus receptor activity GO:0001618 9.54 CD86 CD80 CD4
4 coreceptor activity GO:0015026 9.46 CD8A CD86 CD80 CD4
5 thioesterase binding GO:0031996 9.43 TRAF6 TRAF5 TRAF1
6 ubiquitin protein ligase binding GO:0031625 9.43 TRAF6 TRAF5 TRAF1 IKBKG CD40 AICDA
7 tumor necrosis factor receptor binding GO:0005164 8.92 TRAF6 TRAF5 TRAF1 CD40LG

Sources for Immunodeficiency with Hyper-Igm, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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