MCID: CD4003
MIFTS: 35

Cd40 Ligand Deficiency malady

Blood diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Cd40 Ligand Deficiency

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Sources:
8Disease Ontology, 10DISEASES, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
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Aliases & Descriptions for Cd40 Ligand Deficiency:

Name: Cd40 Ligand Deficiency 8 10 61
X-Linked Hyper-Igm Syndrome 8 48
Hyper-Igm Syndrome Due to Cd40 Ligand Deficiency 48
Hyper-Igm Immunodeficiency Syndrome, Type 1 61
Hyper-Igm Syndrome Due to Cd40l Deficiency 48
 
Hyper-Igm Syndrome Type 1 48
Higmx-1 8
Higm1 48
Xhigm 48


Classifications:



External Ids:

Disease Ontology8 DOID:0060022
Orphanet48 101088
ICD10 via Orphanet26 D80.5

Summaries for Cd40 Ligand Deficiency

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Disease Ontology:8 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.

MalaCards based summary: Cd40 Ligand Deficiency, also known as x-linked hyper-igm syndrome, is related to lupus erythematosus and cryptosporidiosis. An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 ligand), and among its related pathways are B Cell Receptor Signaling Pathway and Primary immunodeficiency. The compounds sulfolipid i and sandoglobulin have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone marrow.

Related Diseases for Cd40 Ligand Deficiency

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.9CD40LG, CD79A
2cryptosporidiosis30.9CD79A
3common variable immunodeficiency30.7CD40LG, CD79A
4bronchiectasis30.5CD79A, IGHE
5systemic lupus erythematosus30.5CD40LG, CD79A
6eosinophilia30.4CD79A, IGHE
7immunodeficiency, x-linked, with hyper-igm30.0CD79A, IGHE, CD40LG
8pneumonia10.5
9q fever10.4CD79A
10syphilis10.4CD79A
11macroglobulinemia10.4CD79A
12arthritis10.4
13meningoencephalitis10.4
14progressive multifocal leukoencephalopathy10.4
15obstructive jaundice10.4
16encephalitis10.4
17gastroenteritis10.4
18neuroendocrine tumor10.4
19sarcoma10.4
20acute respiratory distress syndrome10.4
21autoimmune retinopathy10.4
22discoid lupus erythematosus10.4
23hematopoietic stem cell transplantation10.4
24neutropenia10.4
25toxocariasis10.3IGHE
26strongyloidiasis10.3IGHE
27cholangiocarcinoma10.2
28x-linked hyper igm syndrome10.2
29sclerosing cholangitis10.2
30arteriosclerosis10.2
31cholangitis10.2
32congenital toxoplasmosis10.2CD79A, CD40LG
33selective iga deficiency disease10.2CD40LG, CD79A
34immunodeficiency, centromere instability and facial anomalies syndrome10.2CD40LG, CD79A
35cryoglobulinemia10.1CD79A, CD40LG
36rubella10.1CD40LG, CD79A
37autoimmune hemolytic anemia10.1CD79A, CD40LG
38pfeiffer syndrome10.1CD79A, CD40LG
39toxoplasmosis10.1CD40LG, CD79A
40agammaglobulinemia10.1CD40LG, CD79A
41spondyloarthropathy 110.1CD40LG, CD79A
42antiphospholipid syndrome10.1CD40LG, CD79A
43measles10.1CD40LG, CD79A
44polyneuropathy10.1CD79A, CD40LG
45lupus nephritis10.1CD40LG, CD79A
46connective tissue disease10.1CD79A, CD40LG
47iga glomerulonephritis10.1CD79A, CD40LG
48nephritis10.1CD79A, CD40LG
49sjogren's syndrome10.1CD40LG, CD79A
50primary biliary cirrhosis10.1CD79A, CD40LG

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



Diseases related to cd40 ligand deficiency

Symptoms for Cd40 Ligand Deficiency

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Drugs & Therapeutics for Cd40 Ligand Deficiency

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Drug clinical trials:

Search ClinicalTrials for Cd40 Ligand Deficiency

Search NIH Clinical Center for Cd40 Ligand Deficiency

Genetic Tests for Cd40 Ligand Deficiency

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Anatomical Context for Cd40 Ligand Deficiency

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MalaCards organs/tissues related to Cd40 Ligand Deficiency:

31
T cells, B cells, Bone marrow, Bone, Liver

Animal Models for Cd40 Ligand Deficiency or affiliated genes

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Publications for Cd40 Ligand Deficiency

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Articles related to Cd40 Ligand Deficiency:

(show all 18)
idTitleAuthorsYear
1
Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. (25840720)
2015
2
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. (24308834)
2014
3
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. (22678466)
2012
4
CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. (21967264)
2011
5
Molecular diagnostic challenges and complex management of consecutive twin pregnancies in a family with CD40 ligand deficiency. (21958324)
2011
6
CD40 ligand deficiency: neurologic sequelae with radiographic correlation. (19931163)
2009
7
Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency. (18056008)
2007
8
JC virus granule cell neuronopathy in a child with CD40 ligand deficiency. (17352955)
2007
9
Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. (17303928)
2007
10
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. (15273748)
2004
11
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. (14525761)
2004
12
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability. (11801691)
2002
13
Co-stimulatory molecules in islet xenotransplantation: CTLA4Ig treatment in CD40 ligand-deficient mice. (12518898)
2002
14
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. (11369571)
2001
15
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
16
Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. (9809548)
1998
17
CD40 ligand deficiency presenting as unresponsive neutropenia. (8669967)
1996
18
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. (8889581)
1996

Variations for Cd40 Ligand Deficiency

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Clinvar genetic disease variations for Cd40 Ligand Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CD40LGNM_000074.2(CD40LG): c.703G> C (p.Ala235Pro)single nucleotide variantPathogenicrs104894771GRCh37Chr X, 135741491: 135741491
2CD40LGNM_000074.2(CD40LG): c.680G> T (p.Gly227Val)single nucleotide variantPathogenicrs104894768GRCh37Chr X, 135741468: 135741468
3CD40LGNM_000074.2(CD40LG): c.464T> C (p.Leu155Pro)single nucleotide variantPathogenicrs104894769GRCh37Chr X, 135741252: 135741252
4CD40LGNM_000074.2(CD40LG): c.107T> G (p.Met36Arg)single nucleotide variantPathogenicrs104894774GRCh37Chr X, 135730514: 135730514
5CD40LGNM_000074.2(CD40LG): c.419G> A (p.Trp140Ter)single nucleotide variantPathogenicrs104894775GRCh37Chr X, 135741207: 135741207
6CD40LGNM_000074.2(CD40LG): c.418T> G (p.Trp140Gly)single nucleotide variantPathogenicrs104894777GRCh37Chr X, 135741206: 135741206
7CD40LGNM_000074.2(CD40LG): c.368C> A (p.Ala123Glu)single nucleotide variantPathogenicrs104894778GRCh37Chr X, 135738536: 135738536
8CD40LGNM_000074.2(CD40LG): c.31C> T (p.Arg11Ter)single nucleotide variantPathogenicrs193922135GRCh37Chr X, 135730438: 135730438
9CD40LGNM_000074.2(CD40LG): c.761C> T (p.Thr254Met)single nucleotide variantPathogenicrs193922136GRCh37Chr X, 135741549: 135741549

Expression for genes affiliated with Cd40 Ligand Deficiency

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

Pathways for genes affiliated with Cd40 Ligand Deficiency

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Pathways related to Cd40 Ligand Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.3CD40LG, CD79A
29.3CD40LG, CD79A
39.1CD40LG, IGHE
4
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells36
9.0CD79A, IGHE
5
Show member pathways
9.0CD79A, IGHE
6
Show member pathways
Immune response T cell receptor signaling pathway59
Immune response CD28 signaling59
Immune response ICOS pathway in T helper cell59
9.0IGHE, CD79A

Compounds for genes affiliated with Cd40 Ligand Deficiency

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Compounds related to Cd40 Ligand Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1sulfolipid i449.8CD40LG, CD79A
2sandoglobulin449.8CD40LG, CD79A
3gamma globulin449.8CD40LG, CD79A
4vancomycin44 1110.8CD79A, CD40LG
5pneumococcal449.7CD79A, CD40LG
6blys449.7CD40LG, CD79A
7tuberculin449.7CD79A, CD40LG
8hemocyanin449.7CD79A, CD40LG
9pmma449.7CD79A, CD40LG
10mannan449.7CD79A, CD40LG
11okt3449.7CD79A, CD40LG
12glutaraldehyde449.6CD40LG, CD79A
13sulfasalazine28 44 50 1112.6CD79A, CD40LG
14cardiolipin44 1110.6CD40LG, CD79A
15oxamniquine44 1110.6CD40LG, IGHE
16valproate449.6CD79A, CD40LG
17mycophenolate mofetil44 50 1111.5CD40LG, CD79A
18sulfamethoxazole50 44 1111.5IGHE, CD40LG
19phenytoin44 50 28 1112.5CD40LG, CD79A
20mycophenolic acid44 50 1111.5CD40LG, IGHE
21unicap449.5IGHE, CD79A
22sodium cromoglycate449.5CD79A, IGHE
23cytidine44 24 1111.4CD79A, CD40LG
24penicillin449.4CD79A, IGHE
25anti-fungal449.4CD79A, CD40LG
26neopterin449.3CD79A, CD40LG
27salbutamol44 50 28 24 1113.3IGHE, CD79A
28doxycycline44 1110.2CD79A, CD40LG
29methacholine44 50 1111.2IGHE, CD79A
30vitamin b12449.0CD79A, CD40LG
31praziquantel44 1110.0CD40LG, IGHE, CD79A
32gliadin449.0CD79A, IGHE, CD40LG
33silicone449.0CD79A, CD40LG, IGHE
34ivig449.0IGHE, CD40LG, CD79A
35allergens449.0CD79A, CD40LG, IGHE
36thyroxine44 249.9IGHE, CD79A, CD40LG
37folate448.9IGHE, CD79A, CD40LG
38epinephrine44 24 1110.9IGHE, CD79A, CD40LG
39n acetylcysteine448.9IGHE, CD79A, CD40LG
40ascorbic acid44 249.9IGHE, CD79A, CD40LG
41indomethacin44 28 60 1111.9CD79A, IGHE, CD40LG
42polysaccharide448.9CD40LG, IGHE, CD79A
43norepinephrine44 24 1110.9CD40LG, IGHE, CD79A
44histamine44 28 2410.9CD79A, CD40LG, IGHE
45acetylcholine44 50 28 24 1112.9IGHE, CD79A, CD40LG
46cyclosporin a44 28 6010.8CD40LG, IGHE, CD79A
47lactate448.8CD79A, IGHE, CD40LG
48creatinine448.8CD79A, CD40LG, IGHE
49heparin44 28 24 1111.8IGHE, CD40LG, CD79A
50testosterone44 60 24 1111.5CD40LG, CD79A, IGHE

GO Terms for genes affiliated with Cd40 Ligand Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.3CD40LG, CD79A

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

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:00301839.3CD40LG, CD79A
2B cell proliferationGO:00421009.0CD40LG, CD79A

Sources for Cd40 Ligand Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet