XHIM
MCID: CD4003
MIFTS: 40

Cd40 Ligand Deficiency (XHIM) malady

Genetic diseases (common), Immune diseases categories
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Summaries for Cd40 Ligand Deficiency

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8Disease Ontology, 21Genetics Home Reference, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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: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.

GeneReviews summary for xlhi

Aliases & Classifications for Cd40 Ligand Deficiency

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8Disease Ontology, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 62UMLS
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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 8 10 62
x-linked hyper igm syndrome 19 21 10
x-linked hyper-igm syndrome 8 20
hyper-igm syndrome 1 19 21
higm1 19 21
hyper-igm immunodeficiency syndrome, type 1 62
immunodeficiency with hyper-igm, type 1 21
x-linked hyper-igm immunodeficiency 19
higmx-1 8
xhim 19


External Ids:

Disease Ontology8 DOID:0060022

Related Diseases for Cd40 Ligand Deficiency

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17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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Genetic tests related to Cd40 Ligand Deficiency:

id Genetic test Affiliating Genes
1 X-Linked Hyper Igm Syndrome20 CD40LG

Anatomical Context for Cd40 Ligand Deficiency

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33MalaCards
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MalaCards organs/tissues related to Cd40 Ligand Deficiency:

33
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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52PubMed
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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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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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 54R&D Systems, 55Reactome, 53QIAGEN
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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 pathway38
TCR Signaling Pathway38
9.3CD40LG, CD79A
29.3CD40LG, CD79A
39.1CD40LG, IGHE
4
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
9.0CD79A, IGHE
5
Show member pathways
9.0CD79A, IGHE
6
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.0IGHE, CD79A

Compounds for genes affiliated with Cd40 Ligand Deficiency

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Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris 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 i459.8CD40LG, CD79A
2sandoglobulin459.8CD40LG, CD79A
3gamma globulin459.8CD40LG, CD79A
4vancomycin45 1110.8CD79A, CD40LG
5pneumococcal459.7CD79A, CD40LG
6blys459.7CD40LG, CD79A
7tuberculin459.7CD79A, CD40LG
8hemocyanin459.7CD79A, CD40LG
9pmma459.7CD79A, CD40LG
10mannan459.7CD79A, CD40LG
11okt3459.7CD79A, CD40LG
12glutaraldehyde459.6CD40LG, CD79A
13sulfasalazine29 45 51 1112.6CD79A, CD40LG
14cardiolipin45 1110.6CD40LG, CD79A
15oxamniquine45 1110.6CD40LG, IGHE
16valproate459.6CD79A, CD40LG
17mycophenolate mofetil45 51 1111.5CD40LG, CD79A
18sulfamethoxazole51 45 1111.5IGHE, CD40LG
19phenytoin45 51 29 1112.5CD40LG, CD79A
20mycophenolic acid45 51 1111.5CD40LG, IGHE
21unicap459.5IGHE, CD79A
22sodium cromoglycate459.5CD79A, IGHE
23cytidine45 24 1111.4CD79A, CD40LG
24penicillin459.4CD79A, IGHE
25anti-fungal459.4CD79A, CD40LG
26neopterin459.3CD79A, CD40LG
27salbutamol45 51 29 24 1113.3IGHE, CD79A
28doxycycline45 1110.2CD79A, CD40LG
29methacholine45 51 1111.2IGHE, CD79A
30vitamin b12459.0CD79A, CD40LG
31praziquantel45 1110.0CD40LG, IGHE, CD79A
32gliadin459.0CD79A, IGHE, CD40LG
33silicone459.0CD79A, CD40LG, IGHE
34ivig459.0IGHE, CD40LG, CD79A
35allergens459.0CD79A, CD40LG, IGHE
36thyroxine45 249.9IGHE, CD79A, CD40LG
37folate458.9IGHE, CD79A, CD40LG
38epinephrine45 24 1110.9IGHE, CD79A, CD40LG
39n acetylcysteine458.9IGHE, CD79A, CD40LG
40ascorbic acid45 249.9IGHE, CD79A, CD40LG
41indomethacin45 29 61 1111.9CD79A, IGHE, CD40LG
42polysaccharide458.9CD40LG, IGHE, CD79A
43norepinephrine45 24 1110.9CD40LG, IGHE, CD79A
44histamine45 29 2410.9CD79A, CD40LG, IGHE
45acetylcholine45 51 29 24 1112.9IGHE, CD79A, CD40LG
46cyclosporin a45 29 6110.8CD40LG, IGHE, CD79A
47lactate458.8CD79A, IGHE, CD40LG
48creatinine458.8CD79A, CD40LG, IGHE
49heparin45 29 24 1111.8IGHE, CD40LG, CD79A
50testosterone45 61 24 1111.5CD40LG, CD79A, IGHE

GO Terms for genes affiliated with Cd40 Ligand Deficiency

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet