XHIM
MCID: CD4003
MIFTS: 40

Cd40 Ligand Deficiency (XHIM) malady

Genetic diseases (common), Immune diseases categories

Summaries for Cd40 Ligand Deficiency

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9Disease Ontology, 22Genetics Home Reference, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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: Cd40 Ligand Deficiency, also known as x-linked hyper igm syndrome, is related to lupus erythematosus and systemic lupus erythematosus. 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.

Disease Ontology:9 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 summary for xlhi

Aliases & Classifications for Cd40 Ligand Deficiency

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9Disease Ontology, 20GeneReviews, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases


Aliases & Descriptions:

cd40 ligand deficiency 9 11 63
x-linked hyper igm syndrome 20 22 11
x-linked hyper-igm syndrome 9 21
hyper-igm syndrome 1 20 22
higm1 20 22
hyper-igm immunodeficiency syndrome, type 1 63
immunodeficiency with hyper-igm, type 1 22
x-linked hyper-igm immunodeficiency 20
higmx-1 9
xhim 20


External Ids:

Disease Ontology9 DOID:0060022

Related Diseases for Cd40 Ligand Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Cd40 Ligand Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.8CD40LG, CD79A
2systemic lupus erythematosus30.5CD40LG, CD79A
3cryptosporidiosis30.4CD79A
4immunodeficiency with hyper igm type 130.2CD79A, IGHE, CD40LG
5pneumonia10.5
6meningoencephalitis10.3
7progressive multifocal leukoencephalopathy10.3
8kaposi's sarcoma10.3
9obstructive jaundice10.3
10common variable immunodeficiency10.3
11arthritis10.3
12encephalitis10.3
13gastroenteritis10.3
14neuroendocrine tumor10.3
15sarcoma10.3
16autoimmune retinopathy10.3
17discoid lupus erythematosus10.3
18neutropenia10.3
19x-linked hyper igm syndrome10.2
20sclerosing cholangitis10.2
21arteriosclerosis10.2
22cholangiocarcinoma10.2
23cholangitis10.2
24hematopoietic stem cell transplantation10.2
25q fever10.1CD79A
26syphilis10.1CD79A
27macroglobulinemia10.1CD79A
28toxocariasis10.1IGHE
29strongyloidiasis10.1IGHE
30congenital toxoplasmosis10.0CD79A, CD40LG
31selective iga deficiency disease10.0CD40LG, CD79A
32immunodeficiency, centromere instability and facial anomalies syndrome10.0CD40LG, CD79A
33cryoglobulinemia10.0CD79A, CD40LG
34rubella10.0CD40LG, CD79A
35autoimmune hemolytic anemia10.0CD79A, CD40LG
36infectious mononucleosis10.0CD79A, CD40LG
37toxoplasmosis10.0CD40LG, CD79A
38agammaglobulinemia10.0CD40LG, CD79A
39immunodeficiency, common variable, 710.0CD79A, CD40LG
40common variable immune deficiency10.0CD40LG, CD79A
41ankylosing spondylitis10.0CD40LG, CD79A
42antiphospholipid syndrome10.0CD40LG, CD79A
43cd40 deficiency10.0
44immunodeficiency with hyper igm type 210.0
45immunodeficiency with hyper igm type 410.0
46immunodeficiency with hyper igm type 510.0
47measles10.0CD40LG, CD79A
48polyneuropathy10.0CD79A, CD40LG
49lupus nephritis10.0CD40LG, CD79A
50connective tissue disease10.0CD79A, 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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Cd40 Ligand Deficiency

Drug clinical trials:

Search ClinicalTrials for Cd40 Ligand Deficiency

Search NIH Clinical Center for Cd40 Ligand Deficiency

Search CenterWatch for Cd40 Ligand Deficiency

Genetic Tests for Cd40 Ligand Deficiency

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21GeneTests
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Genetic tests related to Cd40 Ligand Deficiency:

id Genetic test Affiliating Genes
1 X-Linked Hyper Igm Syndrome21 CD40LG

Anatomical Context for Cd40 Ligand Deficiency

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34MalaCards
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MalaCards organs/tissues related to Cd40 Ligand Deficiency:

34
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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53PubMed
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Articles related to Cd40 Ligand Deficiency:

(show all 17)
idTitleAuthorsYear
1
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. (24308834)
2014
2
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. (22678466)
2012
3
CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. (21967264)
2011
4
Molecular diagnostic challenges and complex management of consecutive twin pregnancies in a family with CD40 ligand deficiency. (21958324)
2011
5
CD40 ligand deficiency: neurologic sequelae with radiographic correlation. (19931163)
2009
6
Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency. (18056008)
2007
7
JC virus granule cell neuronopathy in a child with CD40 ligand deficiency. (17352955)
2007
8
Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. (17303928)
2007
9
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. (15273748)
2004
10
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. (14525761)
2004
11
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability. (11801691)
2002
12
Co-stimulatory molecules in islet xenotransplantation: CTLA4Ig treatment in CD40 ligand-deficient mice. (12518898)
2002
13
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. (11369571)
2001
14
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
15
Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. (9809548)
1998
16
CD40 ligand deficiency presenting as unresponsive neutropenia. (8669967)
1996
17
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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cd40 Ligand Deficiency:

1
id Gene Name 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cd40 Ligand Deficiency

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

Pathways for genes affiliated with Cd40 Ligand Deficiency

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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters, 55R&D Systems, 56Reactome, 54QIAGEN
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Pathways related to Cd40 Ligand Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.3CD40LG, CD79A
29.3CD40LG, CD79A
39.1CD40LG, IGHE
4
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.0CD79A, IGHE
5
Show member pathways
9.0CD79A, IGHE
6
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
9.0IGHE, CD79A

Compounds for genes affiliated with Cd40 Ligand Deficiency

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Sources:
46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Cd40 Ligand Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1sulfolipid i469.8CD40LG, CD79A
2sandoglobulin469.8CD40LG, CD79A
3gamma globulin469.8CD40LG, CD79A
4vancomycin46 1210.8CD79A, CD40LG
5pneumococcal469.7CD79A, CD40LG
6blys469.7CD40LG, CD79A
7tuberculin469.7CD79A, CD40LG
8hemocyanin469.7CD79A, CD40LG
9pmma469.7CD79A, CD40LG
10mannan469.7CD79A, CD40LG
11okt3469.7CD79A, CD40LG
12glutaraldehyde469.6CD40LG, CD79A
13sulfasalazine30 46 52 1212.6CD79A, CD40LG
14cardiolipin46 1210.6CD40LG, CD79A
15oxamniquine46 1210.6CD40LG, IGHE
16valproate469.6CD79A, CD40LG
17mycophenolate mofetil46 52 1211.5CD40LG, CD79A
18sulfamethoxazole52 46 1211.5IGHE, CD40LG
19phenytoin46 52 30 1212.5CD40LG, CD79A
20mycophenolic acid46 52 1211.5CD40LG, IGHE
21unicap469.5IGHE, CD79A
22sodium cromoglycate469.5CD79A, IGHE
23cytidine46 25 1211.4CD79A, CD40LG
24penicillin469.4CD79A, IGHE
25anti-fungal469.4CD79A, CD40LG
26neopterin469.3CD79A, CD40LG
27salbutamol46 52 30 25 1213.3IGHE, CD79A
28doxycycline46 1210.2CD79A, CD40LG
29methacholine46 52 1211.2IGHE, CD79A
30vitamin b12469.0CD79A, CD40LG
31praziquantel46 1210.0CD40LG, IGHE, CD79A
32gliadin469.0CD79A, IGHE, CD40LG
33silicone469.0CD79A, CD40LG, IGHE
34ivig469.0IGHE, CD40LG, CD79A
35allergens469.0CD79A, CD40LG, IGHE
36thyroxine46 259.9IGHE, CD79A, CD40LG
37folate468.9IGHE, CD79A, CD40LG
38epinephrine46 25 1210.9IGHE, CD79A, CD40LG
39n acetylcysteine468.9IGHE, CD79A, CD40LG
40ascorbic acid46 259.9IGHE, CD79A, CD40LG
41indomethacin46 30 62 1211.9CD79A, IGHE, CD40LG
42polysaccharide468.9CD40LG, IGHE, CD79A
43norepinephrine46 25 1210.9CD40LG, IGHE, CD79A
44histamine46 30 2510.9CD79A, CD40LG, IGHE
45acetylcholine46 52 30 25 1212.9IGHE, CD79A, CD40LG
46cyclosporin a46 30 6210.8CD40LG, IGHE, CD79A
47lactate468.8CD79A, IGHE, CD40LG
48creatinine468.8CD79A, CD40LG, IGHE
49heparin46 30 25 1211.8IGHE, CD40LG, CD79A
50testosterone46 62 25 1211.5CD40LG, CD79A, IGHE

GO Terms for genes affiliated with Cd40 Ligand Deficiency

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17Gene Ontology
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Cellular components related to Cd40 Ligand Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.3CD40LG, CD79A

Biological processes related to Cd40 Ligand Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:0301839.3CD40LG, CD79A
2B cell proliferationGO:0421009.0CD40LG, CD79A

Products for genes affiliated with Cd40 Ligand Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cd40 Ligand Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet