MCID: CD4003
MIFTS: 43

Cd40 Ligand Deficiency

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Cd40 Ligand Deficiency

MalaCards integrated aliases for Cd40 Ligand Deficiency:

Name: Cd40 Ligand Deficiency 12 14 69
X-Linked Hyper Igm Syndrome 12 23 24 25 14
Hyperimmunoglobulin M Syndrome 12 29 69
Hyper-Igm Syndrome 1 23 24 25
Higm1 23 24 25
X-Linked Hyper-Igm Immunodeficiency 23 24
Xhim 23 24
Hyper-Igm Immunodeficiency Syndrome, Type 1 69
Immunodeficiency with Hyper-Igm, Type 1 25
Hyper-Igm Immunodeficiency Syndrome 42
Hyper Igm Syndrome, X-Linked 24
X-Linked Hyper-Igm Syndrome 12
Higmx-1 12

Characteristics:

GeneReviews:

23
Penetrance Penetrance is complete in males with a cd40lg pathogenic variant...

Classifications:



External Ids:

Disease Ontology 12 DOID:0060022 DOID:6620
MeSH 42 D053306
NCIt 47 C3990 C84783
SNOMED-CT 64 82286005
UMLS 69 C0272236

Summaries for Cd40 Ligand Deficiency

Genetics Home Reference : 25 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 arteriosclerosis and immunodeficiency, x-linked, with hyper-igm, and has symptoms including diarrhea An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Immune response NFAT in immune response and NF-kappaB Signaling. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and bone.

Disease Ontology : 12 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: NBK1402

Related Diseases for Cd40 Ligand Deficiency

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

(show top 50) (show all 166)
id Related Disease Score Top Affiliating Genes
1 arteriosclerosis 30.3 CD40LG CD79A
2 immunodeficiency, x-linked, with hyper-igm 11.2
3 alcoholic neuropathy 10.6 CD40LG CD79A
4 calloso-genital dysplasia 10.6 CD40LG CD79A
5 variola major 10.6 CD40LG CD79A
6 mu chain disease 10.6 CD40LG CD79A
7 rabies 10.6 CD40LG CD79A
8 familial retinoblastoma 10.6 CD40LG CD79A
9 anti-basement membrane glomerulonephritis 10.6 CD40LG CD79A
10 microinvasive cervical squamous cell carcinoma 10.6 CD40LG CD79A
11 fetal erythroblastosis 10.6 CD40LG CD79A
12 spinal canal and spinal cord meningioma 10.6 CD40LG CD79A
13 trichostrongyloidiasis 10.6 CD40LG CD79A
14 disease_ontology 10.6 CD40 CD40LG
15 leukodystrophy 10.6 CD40LG CD79A
16 retinal microaneurysm 10.6 CD40LG CD79A
17 heart septal defect 10.6 CD40LG CD79A
18 cryptorchidism arachnodactyly mental retardation 10.6 CD40LG CD79A
19 acute kidney tubular necrosis 10.6 CD40LG CD79A
20 secretory meningioma 10.6 CD40LG CD79A
21 hodgkin's lymphoma, nodular sclerosis 10.6 CD40LG CD79A
22 imperforate oropharynx-costo vetebral anomalies 10.6 CD40LG CD79A
23 malignant otitis externa 10.6 CD40LG CD79A
24 transient hypogammaglobulinemia 10.6 CD40LG CD79A
25 benign epilepsy with centrotemporal spikes 10.6 CD40LG CD79A
26 tongue cancer 10.6 CD40LG CD79A
27 hydrops of gallbladder 10.6 CD40LG CD79A
28 gamma heavy chain disease 10.6 CD40LG CD79A
29 diabetic angiopathy 10.6 CD40LG CD79A
30 rosacea conjunctivitis 10.6 CD40LG CD79A
31 viral meningitis 10.6 CD40LG CD79A
32 heart fibrosarcoma 10.6 CD40LG CD79A
33 alopecia areata 10.6 CD40LG CD79A
34 kidney carcinoma in situ 10.6 CD40LG CD79A
35 cardiac tuberculosis 10.6 CD40LG CD79A
36 dumping syndrome 10.6 CD40LG CD79A
37 leiomyosarcoma 10.6 CD40LG CD79A
38 generalized atherosclerosis 10.6 CD40LG CD79A
39 colonic benign neoplasm 10.6 CD40LG CD79A
40 cerebral neuroblastoma 10.6 CD40LG CD79A
41 pancreatic vasoactive intestinal peptide producing tumor 10.6 CD40LG CD79A
42 oculo-cerebral dysplasia 10.6 CD40LG CD79A
43 aniseikonia 10.6 CD40LG CD79A
44 gestational diabetes 10.6 CD40LG CD79A
45 polyneuropathy due to drug 10.6 CD40LG CD79A
46 chronic mucocutaneous candidiasis 10.6 CD40LG CD79A
47 cutaneous ganglioneuroma 10.6 CD40LG CD79A
48 acute hemorrhagic encephalitis 10.6 CD40LG CD79A
49 mental retardation, autosomal dominant 19 10.6 CD40LG CD79A
50 adie pupil 10.6 CD40LG CD79A

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



Diseases related to Cd40 Ligand Deficiency

Symptoms & Phenotypes for Cd40 Ligand Deficiency

UMLS symptoms related to Cd40 Ligand Deficiency:


diarrhea

Drugs & Therapeutics for Cd40 Ligand Deficiency

Drugs for Cd40 Ligand Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3
2 gamma-Globulins Phase 4,Phase 3,Phase 2
3 Immunoglobulins Phase 4,Phase 3
4 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
5 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
6 Vaccines Phase 2
7
alemtuzumab Approved, Investigational 216503-57-0
8
Busulfan Approved, Investigational 55-98-1 2478
9
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
10
Fludarabine Approved 21679-14-1, 75607-67-9 30751
11
Melphalan Approved 148-82-3 4053 460612
12
Mesna Approved 3375-50-6 598
13
Vidarabine Approved 24356-66-9 32326 21704
14
Etoposide Approved 33419-42-0 36462
15
Methotrexate Approved 1959-05-2, 59-05-2 126941
16
Methylprednisolone Approved, Vet_approved 83-43-2 6741
17
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
18
Prednisolone Approved, Vet_approved 50-24-8 5755
19
Prednisone Approved, Vet_approved 53-03-2 5865
20
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
21
leucovorin Approved, Nutraceutical 58-05-9 143 6006
22 Alkylating Agents
23 Anti-Infective Agents
24 Antimetabolites
25 Antimetabolites, Antineoplastic
26 Antirheumatic Agents
27 Antiviral Agents
28 Immunosuppressive Agents
29 Protective Agents
30 Antiemetics
31 Antifungal Agents
32 Anti-Inflammatory Agents
33 Antilymphocyte Serum
34 Antineoplastic Agents, Hormonal
35 Antineoplastic Agents, Phytogenic
36 Autonomic Agents
37 Calcineurin Inhibitors
38 Complement System Proteins
39 Cyclosporins
40 Dermatologic Agents
41 Etoposide phosphate
42 Folic Acid Antagonists
43 Gastrointestinal Agents
44 glucocorticoids
45 Hormone Antagonists
46 Hormones
47 Hormones, Hormone Substitutes, and Hormone Antagonists
48 Methylprednisolone acetate
49 Methylprednisolone Hemisuccinate
50 Neuroprotective Agents

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Flebogamma 5% DIF IGIV in Pediatric Subjects Completed NCT00634569 Phase 4
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
4 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
5 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
6 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
7 Dose-ranging Study to Evaluate the Safety & Immunogenicity of a HIV Vaccine 732461 in Healthy HIV Seronegative Volunteers Completed NCT00434512 Phase 2
8 Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hyper-IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
9 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
10 Study to Optimize the Quality of Samples for Cell-mediated Immunity (CMI) in ART-naïve HIV-1-infected Subjects Completed NCT01610427
11 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
12 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
13 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Enrolling by invitation NCT00006319
14 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
15 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Cd40 Ligand Deficiency

Cochrane evidence based reviews: hyper-igm immunodeficiency syndrome

Genetic Tests for Cd40 Ligand Deficiency

Genetic tests related to Cd40 Ligand Deficiency:

id Genetic test Affiliating Genes
1 Hyperimmunoglobulin M Syndrome 29
2 X-Linked Hyper Igm Syndrome 24 CD40LG

Anatomical Context for Cd40 Ligand Deficiency

MalaCards organs/tissues related to Cd40 Ligand Deficiency:

39
T Cells, B Cells, Bone, Bone Marrow, Liver

Publications for Cd40 Ligand Deficiency

Articles related to Cd40 Ligand Deficiency:

(show all 21)
id Title Authors Year
1
Liver Transplantation in a Patient With CD40 Ligand Deficiency and Hyper-IgM Syndrome: Clinical and Immunological Assessments. ( 26762604 )
2016
2
Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-I^. ( 27554817 )
2016
3
Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience. ( 26291959 )
2015
4
Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. ( 25840720 )
2015
5
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. ( 24308834 )
2014
6
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. ( 22678466 )
2012
7
CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. ( 21967264 )
2011
8
Molecular diagnostic challenges and complex management of consecutive twin pregnancies in a family with CD40 ligand deficiency. ( 21958324 )
2011
9
CD40 ligand deficiency: neurologic sequelae with radiographic correlation. ( 19931163 )
2009
10
JC virus granule cell neuronopathy in a child with CD40 ligand deficiency. ( 17352955 )
2007
11
Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. ( 17303928 )
2007
12
Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency. ( 18056008 )
2007
13
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. ( 15273748 )
2004
14
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. ( 14525761 )
2004
15
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability. ( 11801691 )
2002
16
Co-stimulatory molecules in islet xenotransplantation: CTLA4Ig treatment in CD40 ligand-deficient mice. ( 12518898 )
2002
17
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. ( 11369571 )
2001
18
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
19
Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. ( 9809548 )
1998
20
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. ( 8889581 )
1996
21
CD40 ligand deficiency presenting as unresponsive neutropenia. ( 8669967 )
1996

Variations for Cd40 Ligand Deficiency

ClinVar genetic disease variations for Cd40 Ligand Deficiency:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 CD40LG NM_000074.2(CD40LG): c.703G> C (p.Ala235Pro) single nucleotide variant Pathogenic rs104894771 GRCh37 Chromosome X, 135741491: 135741491
2 CD40LG NM_000074.2(CD40LG): c.680G> T (p.Gly227Val) single nucleotide variant Pathogenic rs104894768 GRCh37 Chromosome X, 135741468: 135741468
3 CD40LG NM_000074.2(CD40LG): c.464T> C (p.Leu155Pro) single nucleotide variant Pathogenic rs104894769 GRCh37 Chromosome X, 135741252: 135741252
4 CD40LG CD40LG, THR211ASP undetermined variant Pathogenic
5 CD40LG NM_000074.2(CD40LG): c.107T> G (p.Met36Arg) single nucleotide variant Pathogenic rs104894774 GRCh37 Chromosome X, 135730514: 135730514
6 CD40LG NM_000074.2(CD40LG): c.419G> A (p.Trp140Ter) single nucleotide variant Pathogenic rs104894775 GRCh37 Chromosome X, 135741207: 135741207
7 CD40LG NM_000074.2(CD40LG): c.418T> G (p.Trp140Gly) single nucleotide variant Pathogenic/Likely pathogenic rs104894777 GRCh37 Chromosome X, 135741206: 135741206
8 CD40LG CD40LG, 63-BP DEL deletion Pathogenic
9 CD40LG CD40LG, 8-BP DEL deletion Pathogenic
10 CD40LG CD40LG, 10-BP DEL deletion Pathogenic
11 CD40LG NM_000074.2(CD40LG): c.368C> A (p.Ala123Glu) single nucleotide variant Pathogenic rs104894778 GRCh37 Chromosome X, 135738536: 135738536
12 CD40LG CD40LG, 1-BP INS, TTT-TTTT, FS84TER insertion Pathogenic
13 CD40LG CD40LG, ALU INS, EX1 insertion Pathogenic
14 CD40LG NM_000074.2(CD40LG): c.31C> T (p.Arg11Ter) single nucleotide variant Pathogenic rs193922135 GRCh37 Chromosome X, 135730438: 135730438
15 CD40LG NM_000074.2(CD40LG): c.761C> T (p.Thr254Met) single nucleotide variant Pathogenic rs193922136 GRCh37 Chromosome X, 135741549: 135741549

Expression for Cd40 Ligand Deficiency

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

Pathways for Cd40 Ligand Deficiency

GO Terms for Cd40 Ligand Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 CD40 CD40LG CD79A

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

id Name GO ID Score Top Affiliating Genes
1 B cell activation GO:0042113 9.4 CD40 CD79A
2 positive regulation of interleukin-12 production GO:0032735 9.37 CD40 CD40LG
3 isotype switching GO:0045190 9.32 AICDA CD40LG
4 positive regulation of endothelial cell apoptotic process GO:2000353 9.26 CD40 CD40LG
5 regulation of immunoglobulin secretion GO:0051023 9.16 CD40 CD40LG
6 B cell differentiation GO:0030183 9.13 AICDA CD40LG CD79A
7 B cell proliferation GO:0042100 8.8 CD40 CD40LG CD79A

Sources for Cd40 Ligand Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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