Aliases & Classifications for Cd40 Ligand Deficiency

MalaCards integrated aliases for Cd40 Ligand Deficiency:

Name: Cd40 Ligand Deficiency 12 15 73
Hyperimmunoglobulin M Syndrome 12 29 6 73
X-Linked Hyper Igm Syndrome 12 24 25 15
Hyper-Igm Immunodeficiency Syndrome, Type 1 73
Immunodeficiency with Hyper-Igm, Type 1 25
Hyper-Igm Immunodeficiency Syndrome 44
Immunodeficiency, with Hyper Igm 40
X-Linked Hyper-Igm Syndrome 12
Hyper-Igm Syndrome 1 25
Higmx-1 12
Higm1 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0060022 DOID:6620
MeSH 44 D053306
NCIt 50 C3990 C84783
SNOMED-CT 68 82286005

Summaries for Cd40 Ligand Deficiency

Genetics Home Reference : 25 X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections.

MalaCards based summary : Cd40 Ligand Deficiency, also known as hyperimmunoglobulin m syndrome, is related to immunodeficiency with hyper-igm, type 3 and immunodeficiency with hyper-igm, type 2, and has symptoms including diarrhea An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-kappaB Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone.

Disease Ontology : 12 A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.

GeneReviews:

Related Diseases for Cd40 Ligand Deficiency

Diseases related to Cd40 Ligand Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 169)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 3 33.9 AICDA CD40 CD40LG
2 immunodeficiency with hyper-igm, type 2 33.1 AICDA CD40 CD40LG CD79A
3 immunodeficiency with hyper-igm, type 1 31.5 AICDA CD40 CD40LG CD79A
4 cryptosporidiosis 30.5 CD40LG CD79A
5 immunodeficiency with hyper-igm, type 5 12.7
6 light fixation seizure syndrome 10.7 CD40 CD40LG
7 selective igg deficiency disease 10.6 CD40LG CD79A
8 c1q nephropathy 10.6 CD40LG CD79A
9 meningovascular neurosyphilis 10.6 CD40LG CD79A
10 alpha chain disease 10.6 CD40LG CD79A
11 brill-zinsser disease 10.6 CD40LG CD79A
12 exudative glomerulonephritis 10.6 CD40LG CD79A
13 cork-handlers' disease 10.6 CD40LG CD79A
14 salpingo-oophoritis 10.6 CD40LG CD79A
15 early yaws 10.6 CD40LG CD79A
16 ventilation pneumonitis 10.6 CD40LG CD79A
17 chronic interstitial cystitis 10.6 CD40LG CD79A
18 axillary adenitis 10.6 CD40LG CD79A
19 cryofibrinogenemia 10.6 CD40LG CD79A
20 trichostrongyloidiasis 10.6 CD40LG CD79A
21 subacute bacterial endocarditis 10.6 CD40LG CD79A
22 heterophyiasis 10.6 CD40LG CD79A
23 immunoglobulin g deficiency 10.6 CD40LG CD79A
24 orbital granuloma 10.6 CD40LG CD79A
25 transient hypogammaglobulinemia of infancy 10.6 CD40LG CD79A
26 hyperglobulinemic purpura 10.6 CD40LG CD79A
27 gastroduodenitis 10.6 CD40LG CD79A
28 bacterial conjunctivitis 10.6 CD40LG CD79A
29 heavy chain disease 10.6 CD40LG CD79A
30 ophthalmia neonatorum 10.6 CD40LG CD79A
31 immunoglobulin a deficiency 1 10.6 CD40LG CD79A
32 parotid disease 10.6 CD40LG CD79A
33 cerebral arteritis 10.6 CD40LG CD79A
34 selective immunoglobulin deficiency disease 10.6 CD40LG CD79A
35 geniculate herpes zoster 10.6 CD40LG CD79A
36 erythema elevatum diutinum 10.6 CD40LG CD79A
37 sporotrichosis 10.6 CD40LG CD79A
38 fallopian tube disease 10.6 CD40LG CD79A
39 congenital syphilis 10.6 CD40LG CD79A
40 polyclonal hypergammaglobulinemia 10.6 CD40LG CD79A
41 monoclonal paraproteinemia 10.6 CD40LG CD79A
42 salpingitis 10.6 CD40LG CD79A
43 ocular toxoplasmosis 10.6 CD40LG CD79A
44 dysgammaglobulinemia 10.6 CD40LG CD79A
45 congenital hypogammaglobulinemia 10.6 CD40LG CD79A
46 acute maxillary sinusitis 10.6 CD40LG CD79A
47 chronic polyneuropathy 10.6 CD40LG CD79A
48 spinocerebellar ataxia, autosomal recessive 10 10.6 CD40LG CD79A
49 parasitic ichthyosporea infectious disease 10.6 CD40LG CD79A
50 rhinosporidiosis 10.6 CD40LG CD79A

Graphical network of the top 20 diseases related to Cd40 Ligand Deficiency:



Diseases related to Cd40 Ligand Deficiency

Symptoms & Phenotypes for Cd40 Ligand Deficiency

UMLS symptoms related to Cd40 Ligand Deficiency:


diarrhea

Drugs & Therapeutics for Cd40 Ligand Deficiency

Drugs for Cd40 Ligand Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3
2 gamma-Globulins Phase 4,Phase 3,Phase 2
3 Immunoglobulins Phase 4,Phase 3
4 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
5 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
6 Immunoglobulin G Phase 3
7
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
8
Fludarabine Approved Phase 2,Not Applicable 21679-14-1, 75607-67-9 30751
9
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
10
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
12
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
13
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
14
Vidarabine Approved, Investigational Phase 2,Not Applicable 24356-66-9 32326 21704
15 Vaccines Phase 2
16 Cyclosporins Phase 2,Not Applicable
17 Methylprednisolone acetate Phase 2,Not Applicable
18 Methylprednisolone Hemisuccinate Phase 2,Not Applicable
19 Prednisolone acetate Phase 2,Not Applicable
20 Prednisolone hemisuccinate Phase 2,Not Applicable
21 Prednisolone phosphate Phase 2,Not Applicable
22 Alkylating Agents Phase 2,Not Applicable
23 Anti-Infective Agents Phase 2,Not Applicable
24 Antimetabolites Phase 2,Not Applicable
25 Antimetabolites, Antineoplastic Phase 2,Not Applicable
26 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
27 Antirheumatic Agents Phase 2,Not Applicable
28 Antiviral Agents Phase 2,Not Applicable
29 Immunosuppressive Agents Phase 2,Not Applicable
30 Vidarabine Phosphate Phase 2
31
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
32
Mesna Approved, Investigational Not Applicable 3375-50-6 598
33
Etoposide Approved Not Applicable 33419-42-0 36462
34
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
35
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
36
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
37
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
38 Protective Agents Not Applicable
39 Antiemetics Not Applicable
40 Antifungal Agents Not Applicable
41 Anti-Inflammatory Agents Not Applicable
42 Antilymphocyte Serum Not Applicable
43 Antineoplastic Agents, Hormonal Not Applicable
44 Antineoplastic Agents, Phytogenic Not Applicable
45 Autonomic Agents Not Applicable
46 Calcineurin Inhibitors Not Applicable
47 Complement System Proteins Not Applicable
48 Dermatologic Agents Not Applicable
49 Etoposide phosphate Not Applicable
50 Folic Acid Antagonists Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Flebogamma 5% DIF IGIV in Pediatric Subjects Completed NCT00634569 Phase 4
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
4 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
5 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
6 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
7 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
8 Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hyper-IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
9 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
10 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
11 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
12 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
13 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
14 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
15 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Cd40 Ligand Deficiency

Cochrane evidence based reviews: hyper-igm immunodeficiency syndrome

Genetic Tests for Cd40 Ligand Deficiency

Genetic tests related to Cd40 Ligand Deficiency:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin M Syndrome 29

Anatomical Context for Cd40 Ligand Deficiency

MalaCards organs/tissues related to Cd40 Ligand Deficiency:

41
T Cells, B Cells, Bone, Bone Marrow, Liver, Neutrophil, Small Intestine

Publications for Cd40 Ligand Deficiency

Articles related to Cd40 Ligand Deficiency:

(show all 30)
# Title Authors Year
1
Gastrointestinal histoplasmosis ileal stricture successfully treated with through-the-scope balloon dilation in a patient with hyperimmunoglobulin M syndrome. ( 29340926 )
2018
2
Successful sequential liver and haematopoietic stem cell transplantation in a child with CD40 ligand deficiency and Cryptosporidium-induced liver cirrhosis. ( 29377874 )
2018
3
CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-I^. ( 29518426 )
2018
4
Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-I^. ( 27554817 )
2016
5
Liver Transplantation in a Patient With CD40 Ligand Deficiency and Hyper-IgM Syndrome: Clinical and Immunological Assessments. ( 26762604 )
2016
6
Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. ( 25840720 )
2015
7
Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience. ( 26291959 )
2015
8
Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. ( 25113848 )
2014
9
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. ( 24308834 )
2014
10
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. ( 23911390 )
2013
11
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. ( 22678466 )
2012
12
CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. ( 21967264 )
2011
13
Nodularity of the small intestine in a child with systemic mastocytosis associated with hyperimmunoglobulin M syndrome. ( 21865968 )
2011
14
Molecular diagnostic challenges and complex management of consecutive twin pregnancies in a family with CD40 ligand deficiency. ( 21958324 )
2011
15
CD40 ligand deficiency: neurologic sequelae with radiographic correlation. ( 19931163 )
2009
16
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome. ( 18466034 )
2008
17
JC virus granule cell neuronopathy in a child with CD40 ligand deficiency. ( 17352955 )
2007
18
Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency. ( 18056008 )
2007
19
Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. ( 17303928 )
2007
20
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. ( 15273748 )
2004
21
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. ( 14525761 )
2004
22
Co-stimulatory molecules in islet xenotransplantation: CTLA4Ig treatment in CD40 ligand-deficient mice. ( 12518898 )
2002
23
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability. ( 11801691 )
2002
24
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. ( 11369571 )
2001
25
Non-X-linked hyperimmunoglobulin M syndrome with chronic interstitial pneumonitis. ( 11206940 )
2000
26
Host CD40 ligand deficiency induces long-term allograft survival and donor-specific tolerance in mouse cardiac transplantation but does not prevent graft arteriosclerosis. ( 10975872 )
2000
27
Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. ( 9809548 )
1998
28
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. ( 8889581 )
1996
29
CD40 ligand deficiency presenting as unresponsive neutropenia. ( 8669967 )
1996
30
[Successful treatment of cyclic neutropenia associated with hyperimmunoglobulin M syndrome using recombinant granulocyte-colony stimulating factor]. ( 7566951 )
1995

Variations for Cd40 Ligand Deficiency

ClinVar genetic disease variations for Cd40 Ligand Deficiency:

6
(show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD40LG NM_000074.2(CD40LG): c.761C> T (p.Thr254Met) single nucleotide variant Pathogenic rs193922136 GRCh37 Chromosome X, 135741549: 135741549
2 CD40LG NM_000074.2(CD40LG): c.761C> T (p.Thr254Met) single nucleotide variant Pathogenic rs193922136 GRCh38 Chromosome X, 136659390: 136659390
3 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh37 Chromosome 12, 8757481: 8757481
4 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh38 Chromosome 12, 8604885: 8604885
5 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh37 Chromosome 12, 8759569: 8759569
6 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh38 Chromosome 12, 8606973: 8606973
7 UNG NM_080911.2(UNG): c.-51A> T single nucleotide variant Uncertain significance rs375712849 GRCh37 Chromosome 12, 109535434: 109535434
8 UNG NM_080911.2(UNG): c.-51A> T single nucleotide variant Uncertain significance rs375712849 GRCh38 Chromosome 12, 109097629: 109097629
9 UNG NM_080911.2(UNG): c.544A> G (p.Ile182Val) single nucleotide variant Uncertain significance rs545691651 GRCh38 Chromosome 12, 109102849: 109102849
10 UNG NM_080911.2(UNG): c.544A> G (p.Ile182Val) single nucleotide variant Uncertain significance rs545691651 GRCh37 Chromosome 12, 109540654: 109540654
11 UNG NM_080911.2(UNG): c.623-9T> A single nucleotide variant Uncertain significance rs745983593 GRCh38 Chromosome 12, 109103424: 109103424
12 UNG NM_080911.2(UNG): c.623-9T> A single nucleotide variant Uncertain significance rs745983593 GRCh37 Chromosome 12, 109541229: 109541229
13 UNG NM_080911.2(UNG): c.*788dupT duplication Likely benign rs886048913 GRCh37 Chromosome 12, 109548562: 109548562
14 UNG NM_080911.2(UNG): c.*788dupT duplication Likely benign rs886048913 GRCh38 Chromosome 12, 109110757: 109110757
15 AICDA NM_020661.3(AICDA): c.*1173C> T single nucleotide variant Uncertain significance rs192088951 GRCh37 Chromosome 12, 8755707: 8755707
16 AICDA NM_020661.3(AICDA): c.*1173C> T single nucleotide variant Uncertain significance rs192088951 GRCh38 Chromosome 12, 8603111: 8603111
17 AICDA NM_020661.3(AICDA): c.*1137A> G single nucleotide variant Uncertain significance rs867594346 GRCh37 Chromosome 12, 8755743: 8755743
18 AICDA NM_020661.3(AICDA): c.*1137A> G single nucleotide variant Uncertain significance rs867594346 GRCh38 Chromosome 12, 8603147: 8603147
19 AICDA NM_020661.3(AICDA): c.*1106A> G single nucleotide variant Uncertain significance rs886049869 GRCh37 Chromosome 12, 8755774: 8755774
20 AICDA NM_020661.3(AICDA): c.*1106A> G single nucleotide variant Uncertain significance rs886049869 GRCh38 Chromosome 12, 8603178: 8603178
21 AICDA NM_020661.3(AICDA): c.*718C> A single nucleotide variant Likely benign rs74372815 GRCh37 Chromosome 12, 8756162: 8756162
22 AICDA NM_020661.3(AICDA): c.*718C> A single nucleotide variant Likely benign rs74372815 GRCh38 Chromosome 12, 8603566: 8603566
23 AICDA NM_020661.3(AICDA): c.*556T> G single nucleotide variant Uncertain significance rs3205190 GRCh37 Chromosome 12, 8756324: 8756324
24 AICDA NM_020661.3(AICDA): c.*556T> G single nucleotide variant Uncertain significance rs3205190 GRCh38 Chromosome 12, 8603728: 8603728
25 AICDA NM_020661.3(AICDA): c.*554T> C single nucleotide variant Uncertain significance rs886049874 GRCh37 Chromosome 12, 8756326: 8756326
26 AICDA NM_020661.3(AICDA): c.*554T> C single nucleotide variant Uncertain significance rs886049874 GRCh38 Chromosome 12, 8603730: 8603730
27 AICDA NM_020661.3(AICDA): c.*288C> T single nucleotide variant Uncertain significance rs886049875 GRCh37 Chromosome 12, 8756592: 8756592
28 AICDA NM_020661.3(AICDA): c.*288C> T single nucleotide variant Uncertain significance rs886049875 GRCh38 Chromosome 12, 8603996: 8603996
29 UNG NM_080911.2(UNG): c.6C> A (p.Ile2=) single nucleotide variant Uncertain significance rs886048905 GRCh38 Chromosome 12, 109097685: 109097685
30 UNG NM_080911.2(UNG): c.6C> A (p.Ile2=) single nucleotide variant Uncertain significance rs886048905 GRCh37 Chromosome 12, 109535490: 109535490
31 UNG NM_080911.2(UNG): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance rs886048906 GRCh38 Chromosome 12, 109097779: 109097779
32 UNG NM_080911.2(UNG): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance rs886048906 GRCh37 Chromosome 12, 109535584: 109535584
33 UNG NM_080911.2(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 GRCh38 Chromosome 12, 109101994: 109101994
34 UNG NM_080911.2(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 GRCh37 Chromosome 12, 109539799: 109539799
35 UNG NM_080911.2(UNG): c.660C> T (p.Ala220=) single nucleotide variant Uncertain significance rs572632781 GRCh38 Chromosome 12, 109103470: 109103470
36 UNG NM_080911.2(UNG): c.660C> T (p.Ala220=) single nucleotide variant Uncertain significance rs572632781 GRCh37 Chromosome 12, 109541275: 109541275
37 UNG NM_080911.2(UNG): c.*159G> A single nucleotide variant Uncertain significance rs886048907 GRCh37 Chromosome 12, 109547933: 109547933
38 UNG NM_080911.2(UNG): c.*159G> A single nucleotide variant Uncertain significance rs886048907 GRCh38 Chromosome 12, 109110128: 109110128
39 UNG NM_080911.2(UNG): c.*522A> G single nucleotide variant Uncertain significance rs189054927 GRCh37 Chromosome 12, 109548296: 109548296
40 UNG NM_080911.2(UNG): c.*522A> G single nucleotide variant Uncertain significance rs189054927 GRCh38 Chromosome 12, 109110491: 109110491
41 UNG NM_080911.2(UNG): c.*545A> G single nucleotide variant Uncertain significance rs562354759 GRCh37 Chromosome 12, 109548319: 109548319
42 UNG NM_080911.2(UNG): c.*545A> G single nucleotide variant Uncertain significance rs562354759 GRCh38 Chromosome 12, 109110514: 109110514
43 UNG NM_080911.2(UNG): c.*708T> C single nucleotide variant Uncertain significance rs150677845 GRCh37 Chromosome 12, 109548482: 109548482
44 UNG NM_080911.2(UNG): c.*708T> C single nucleotide variant Uncertain significance rs150677845 GRCh38 Chromosome 12, 109110677: 109110677
45 UNG NM_080911.2(UNG): c.*880A> T single nucleotide variant Uncertain significance rs567806750 GRCh37 Chromosome 12, 109548654: 109548654
46 UNG NM_080911.2(UNG): c.*880A> T single nucleotide variant Uncertain significance rs567806750 GRCh38 Chromosome 12, 109110849: 109110849
47 AICDA NM_020661.3(AICDA): c.*804A> T single nucleotide variant Uncertain significance rs886049872 GRCh38 Chromosome 12, 8603480: 8603480
48 AICDA NM_020661.3(AICDA): c.*1666G> T single nucleotide variant Likely benign rs115523544 GRCh38 Chromosome 12, 8602618: 8602618
49 AICDA NM_020661.3(AICDA): c.*1666G> T single nucleotide variant Likely benign rs115523544 GRCh37 Chromosome 12, 8755214: 8755214
50 AICDA NM_020661.3(AICDA): c.*1662C> A single nucleotide variant Uncertain significance rs527675973 GRCh38 Chromosome 12, 8602622: 8602622

Expression for Cd40 Ligand Deficiency

Search GEO for disease gene expression data for Cd40 Ligand Deficiency.

Pathways for Cd40 Ligand Deficiency

GO Terms for Cd40 Ligand Deficiency

Cellular components related to Cd40 Ligand Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 CD40 CD40LG CD79A

Biological processes related to Cd40 Ligand Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell activation GO:0042113 9.4 CD40 CD79A
2 positive regulation of interleukin-12 production GO:0032735 9.37 CD40 CD40LG
3 positive regulation of endothelial cell apoptotic process GO:2000353 9.32 CD40 CD40LG
4 isotype switching GO:0045190 9.26 AICDA CD40LG
5 regulation of immunoglobulin secretion GO:0051023 9.16 CD40 CD40LG
6 B cell differentiation GO:0030183 9.13 AICDA CD40LG CD79A
7 B cell proliferation GO:0042100 8.8 CD40 CD40LG CD79A

Sources for Cd40 Ligand Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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