XHIM
MCID: CD4003
MIFTS: 40

Cd40 Ligand Deficiency (XHIM) malady

Immune diseases category

Summaries for Cd40 Ligand Deficiency

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8Disease Ontology, 21Genetics Home Reference, 19GeneReviews, 32MalaCards
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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 meningoencephalitis. An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 ligand), and among its related pathways are Calcium signaling in the CD4+ TCR 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, 60UMLS
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Classifications:

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


Aliases & Descriptions:

cd40 ligand deficiency 8 10 60
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 60
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 106)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.7CD40LG, CD79A
2meningoencephalitis30.4CD79A
3systemic lupus erythematosus30.4CD79A, CD40LG, CTLA4
4cryptosporidiosis30.2CD79A
5immunodeficiency with hyper igm type 130.2CD79A, CD40LG, IGHE
6cd40 deficiency10.8
7pneumonia10.5
8obstructive jaundice10.3
9common variable immunodeficiency10.3
10progressive multifocal leukoencephalopathy10.3
11kaposi's sarcoma10.3
12adult syndrome10.3
13arthritis10.3
14encephalitis10.3
15gastroenteritis10.3
16neuroendocrine tumor10.3
17sarcoma10.3
18x-linked hyper igm syndrome10.3
19neutropenia10.3
20sclerosing cholangitis10.1
21arteriosclerosis10.1
22cholangiocarcinoma10.1
23cholangitis10.1
24t cell deficiency10.1
25immunodeficiency with hyper igm type 210.0
26immunodeficiency with hyper igm type 410.0
27immunodeficiency with hyper igm type 510.0
28uveitis10.0CTLA4
29graves' disease10.0CTLA4
30myasthenia gravis10.0CTLA4
31hyperthyroidism10.0CTLA4
32psoriasis10.0CTLA4
33hypothyroidism10.0CTLA4
34hepatitis c10.0CD40LG
35bronchitis10.0CD79A
36pemphigus10.0CD79A
37syphilis10.0CD79A
38pemphigus foliaceus10.0CD79A
39purpura10.0CD79A
40mumps10.0CD79A
41paracoccidioidomycosis10.0CTLA4
42diphtheria10.0CD79A
43candidiasis10.0CD79A
44diarrhea10.0CD79A
45gastritis10.0CD79A
46nephrotic syndrome10.0CD79A
47meningitis10.0CD79A
48deficiency anemia10.0CD79A
49guillain-barre syndrome10.0CD40LG
50dermatitis herpetiformis10.0CD79A

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



Diseases related to cd40 ligand deficiency

Clinical Features for Cd40 Ligand Deficiency

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Drugs & Therapeutics for Cd40 Ligand Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Cd40 Ligand Deficiency

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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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32MalaCards
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MalaCards organs/tissues related to Cd40 Ligand Deficiency:

32
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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50PubMed
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Articles related to Cd40 Ligand Deficiency:

(show all 20)
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
CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization. (9933119)
1999
16
Diminished expression of CD40 ligand may contribute to the defective humoral immunity in patients with MHC class II deficiency. (9521069)
1998
17
Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. (9809548)
1998
18
CD40 ligand deficiency presenting as unresponsive neutropenia. (8669967)
1996
19
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. (8889581)
1996
20
Deletions in the ligand for CD40 in X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). (8103673)
1993

Genetic Variations for Cd40 Ligand Deficiency

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Expression for genes affiliated with Cd40 Ligand Deficiency

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1BioGPS, 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:
37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Cd40 Ligand Deficiency

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44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Cd40 Ligand Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1sulfolipid i4410.0CD40LG, CD79A
2sandoglobulin4410.0CD40LG, CD79A
3vancomycin44 1111.0CD79A, CD40LG
4pneumococcal449.9CD40LG, CD79A
5blys449.9CD79A, CD40LG
6tuberculin449.9CD79A, CD40LG
7norepinephrine44 11 2411.9IGHE
8pmma449.9CD79A, CD40LG
9mannan449.9CD40LG, CD79A
10okt3449.8CD79A, CD40LG
11enterotoxin449.8CTLA4, CD79A
12glutaraldehyde449.7CD79A, CD40LG
13con a449.7CD79A, CTLA4
14sulfasalazine44 28 49 1112.7CD40LG, CD79A
15oxamniquine44 1110.7IGHE, CD40LG
16valproate449.7CD79A, CD40LG
17sulfamethoxazole44 49 1111.6CD40LG, IGHE
18phenytoin44 49 28 1112.6CD79A, CD40LG
19unicap449.6CD79A, IGHE
20mycophenolic acid44 49 1111.5IGHE, CD40LG
21sodium cromoglycate449.5IGHE, CD79A
22hemocyanin449.5CTLA4, CD40LG, CD79A
23mycophenolate mofetil44 49 1111.5CD79A, CD40LG, CTLA4
24rituximab44 49 1111.5CTLA4, CD40LG, CD79A
25penicillin449.5IGHE, CD79A
26cytidine44 11 2411.4CD40LG, CD79A
27salbutamol44 49 28 11 2413.3IGHE, CD79A
28Alpha-D-Mannose119.2IGHE, CTLA4
29praziquantel44 1110.2CD79A, CD40LG, IGHE
30gliadin449.2CD79A, CD40LG, IGHE
31silicone449.2CD79A, CD40LG, IGHE
32ivig449.1CD79A, CD40LG, IGHE
33methacholine44 1110.1IGHE, CD79A
34thyroxine44 2410.1CD79A, CD40LG, IGHE
35folate449.1CD79A, CD40LG, IGHE
36epinephrine44 11 2411.1CD79A, CD40LG, IGHE
37n acetylcysteine449.1IGHE, CD40LG, CD79A
38ascorbic acid44 2410.1CD79A, CD40LG, IGHE
39methotrexate44 49 1111.1CD79A, IGHE, CTLA4
40polysaccharide449.0CD79A, CD40LG, IGHE
41vitamin d449.0CD79A, IGHE, CTLA4
42histamine44 28 2411.0IGHE, CD40LG, CD79A
43infliximab44 49 1110.9CTLA4, IGHE
44allergens448.7CD79A, CD40LG, IGHE, CTLA4
45acetylcholine44 49 28 11 2412.7CTLA4, IGHE, CD40LG, CD79A
46cyclosporin a44 28 5910.7CD79A, CD40LG, IGHE, CTLA4
47dexamethasone44 49 28 1111.7CTLA4, IGHE, CD40LG, CD79A
48glutamate448.6CD79A, CD40LG, IGHE, CTLA4
49alanine448.6CTLA4, IGHE, CD40LG, CD79A
50estrogen448.6CTLA4, IGHE, CD40LG, CD79A

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:0098979.1CD79A, CD40LG, CTLA4

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

idNameGO IDScoreTop Affiliating Genes
1B cell differentiationGO:0301839.5CD79A, CD40LG
2B cell proliferationGO:0421009.4CD79A, CD40LG
3B cell receptor signaling pathwayGO:0508539.2CD79A, CTLA4

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet