XHIM
MCID: CD4003
MIFTS: 41

Cd40 Ligand Deficiency (XHIM) malady

Genetic diseases (common), Immune diseases categories

Summaries for Cd40 Ligand Deficiency

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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 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.

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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Cd40 Ligand Deficiency, Aliases & Descriptions:

Name: Cd40 Ligand Deficiency 9 11 61
X-Linked Hyper Igm Syndrome 20 22 11 61
X-Linked Hyper-Igm Syndrome 9 21
Hyper-Igm Syndrome 1 20 22
Higm1 20 22
 
Hyper-Igm Immunodeficiency Syndrome, Type 1 61
Immunodeficiency with Hyper-Igm, Type 1 22
X-Linked Hyper-Igm Immunodeficiency 20
Higmx-1 9
Xhim 20


Classifications:

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


External Ids:

Disease Ontology9 DOID:0060022

Related Diseases for Cd40 Ligand Deficiency

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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 74)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.9CD40LG, CD79A
2cryptosporidiosis30.9CD79A
3common variable immunodeficiency30.7CD40LG, CD79A
4bronchiectasis30.6CD79A, IGHE
5systemic lupus erythematosus30.5CD40LG, CD79A
6immunodeficiency with hyper igm type 130.0CD79A, IGHE, CD40LG
7pneumonia10.5
8q fever10.4CD79A
9syphilis10.4CD79A
10macroglobulinemia10.4CD79A
11arthritis10.4
12progressive multifocal leukoencephalopathy10.4
13obstructive jaundice10.4
14meningoencephalitis10.4
15kaposi's sarcoma10.4
16encephalitis10.4
17gastroenteritis10.4
18neuroendocrine tumor10.4
19sarcoma10.4
20autoimmune retinopathy10.4
21discoid lupus erythematosus10.4
22neutropenia10.4
23toxocariasis10.3IGHE
24strongyloidiasis10.3IGHE
25cholangiocarcinoma10.2
26hematopoietic stem cell transplantation10.2
27sclerosing cholangitis10.2
28x-linked hyper igm syndrome10.2
29arteriosclerosis10.2
30cholangitis10.2
31congenital toxoplasmosis10.2CD79A, CD40LG
32selective iga deficiency disease10.2CD40LG, CD79A
33immunodeficiency, centromere instability and facial anomalies syndrome10.2CD40LG, CD79A
34bruton-type agammaglobulinemia10.2CD40LG, CD79A
35cryoglobulinemia10.2CD79A, CD40LG
36rubella10.2CD40LG, CD79A
37autoimmune hemolytic anemia10.1CD79A, CD40LG
38infectious mononucleosis10.1CD79A, CD40LG
39toxoplasmosis10.1CD40LG, CD79A
40agammaglobulinemia10.1CD40LG, CD79A
41ankylosing spondylitis10.1CD40LG, CD79A
42antiphospholipid syndrome10.1CD40LG, CD79A
43measles10.1CD40LG, CD79A
44polyneuropathy10.1CD79A, CD40LG
45lupus nephritis10.1CD40LG, CD79A
46connective tissue disease10.1CD79A, CD40LG
47berger disease10.1CD79A, 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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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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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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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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Clinvar genetic disease variations for Cd40 Ligand Deficiency:

7
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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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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Pathways related to Cd40 Ligand Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
9.3CD40LG, CD79A
29.3CD40LG, CD79A
39.1CD40LG, IGHE
4
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells37
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/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
1sulfolipid i449.8CD40LG, CD79A
2sandoglobulin449.8CD40LG, CD79A
3gamma globulin449.8CD40LG, CD79A
4vancomycin44 1210.8CD79A, 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
13sulfasalazine29 44 50 1212.6CD79A, CD40LG
14cardiolipin44 1210.6CD40LG, CD79A
15oxamniquine44 1210.6CD40LG, IGHE
16valproate449.6CD79A, CD40LG
17mycophenolate mofetil44 50 1211.5CD40LG, CD79A
18sulfamethoxazole50 44 1211.5IGHE, CD40LG
19phenytoin44 50 29 1212.5CD40LG, CD79A
20mycophenolic acid44 50 1211.5CD40LG, IGHE
21unicap449.5IGHE, CD79A
22sodium cromoglycate449.5CD79A, IGHE
23cytidine44 25 1211.4CD79A, CD40LG
24penicillin449.4CD79A, IGHE
25anti-fungal449.4CD79A, CD40LG
26neopterin449.3CD79A, CD40LG
27salbutamol44 50 29 25 1213.3IGHE, CD79A
28doxycycline44 1210.2CD79A, CD40LG
29methacholine44 50 1211.2IGHE, CD79A
30vitamin b12449.0CD79A, CD40LG
31praziquantel44 1210.0CD40LG, IGHE, CD79A
32gliadin449.0CD79A, IGHE, CD40LG
33silicone449.0CD79A, CD40LG, IGHE
34ivig449.0IGHE, CD40LG, CD79A
35allergens449.0CD79A, CD40LG, IGHE
36thyroxine44 259.9IGHE, CD79A, CD40LG
37folate448.9IGHE, CD79A, CD40LG
38epinephrine44 25 1210.9IGHE, CD79A, CD40LG
39n acetylcysteine448.9IGHE, CD79A, CD40LG
40ascorbic acid44 259.9IGHE, CD79A, CD40LG
41indomethacin44 29 60 1211.9CD79A, IGHE, CD40LG
42polysaccharide448.9CD40LG, IGHE, CD79A
43norepinephrine44 25 1210.9CD40LG, IGHE, CD79A
44histamine44 29 2510.9CD79A, CD40LG, IGHE
45acetylcholine44 50 29 25 1212.9IGHE, CD79A, CD40LG
46cyclosporin a44 29 6010.8CD40LG, IGHE, CD79A
47lactate448.8CD79A, IGHE, CD40LG
48creatinine448.8CD79A, CD40LG, IGHE
49heparin44 29 25 1211.8IGHE, CD40LG, CD79A
50testosterone44 60 25 1211.5CD40LG, 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/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
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Sources for Cd40 Ligand Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet