MCID: CD4003
MIFTS: 45

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 15 74
Hyperimmunoglobulin M Syndrome 12 30 6 74
X-Linked Hyper Igm Syndrome 12 25 26 15
Hyper-Igm Immunodeficiency Syndrome, Type 1 74
Immunodeficiency with Hyper-Igm, Type 1 26
Hyper-Igm Immunodeficiency Syndrome 45
Immunodeficiency, with Hyper Igm 41
X-Linked Hyper-Igm Syndrome 12
Hyper-Igm Syndrome 1 26
Higmx-1 12
Higm1 26

Classifications:



External Ids:

Disease Ontology 12 DOID:0060022 DOID:6620
MeSH 45 D053306
NCIt 51 C3990 C84783
SNOMED-CT 69 82286005

Summaries for Cd40 Ligand Deficiency

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.

MalaCards based summary : Cd40 Ligand Deficiency, also known as hyperimmunoglobulin m syndrome, is related to immunodeficiency with hyper-igm, type 1 and immunodeficiency with hyper-igm, type 3, and has symptoms including diarrhea An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are NF-kappa B signaling pathway and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. The drugs Immunologic Factors and Immunoglobulins, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and liver, and related phenotypes are hematopoietic system and immune system

GeneReviews:

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 71)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 1 31.9 AICDA CD40 CD40LG UNG
2 immunodeficiency with hyper-igm, type 3 31.6 AICDA CD40 CD40LG
3 light fixation seizure syndrome 31.1 CD40 CD40LG
4 immunodeficiency with hyper-igm, type 4 30.9 AICDA CD40 CD40LG UNG
5 immunodeficiency with hyper-igm, type 2 30.9 AICDA CD40 CD40LG UNG
6 common variable immunodeficiency 30.1 AICDA CD40 CD40LG
7 congenital rubella 29.8 CD40LG UNG
8 immunodeficiency with hyper-igm, type 5 11.1
9 pneumonia 10.3
10 lupus erythematosus 10.3
11 encephalitis 10.3
12 hematopoietic stem cell transplantation 10.2
13 sulfamethoxazole allergy 10.2 CD40 CD40LG
14 kaposi sarcoma 10.2
15 systemic lupus erythematosus 10.2
16 arthritis 10.2
17 crohn's disease 10.2
18 hemophagocytic lymphohistiocytosis 10.2
19 meningoencephalitis 10.2
20 sarcoma 10.2
21 pneumocystosis 10.2
22 cryptococcosis 10.2
23 pulmonary alveolar proteinosis 10.2
24 obstructive jaundice 10.2
25 neuroendocrine tumor 10.2
26 gastroenteritis 10.2
27 progressive multifocal leukoencephalopathy 10.2
28 leishmaniasis 10.2
29 visceral leishmaniasis 10.2
30 bronchiectasis 10.2
31 hypereosinophilic syndrome 10.2
32 acute respiratory distress syndrome 10.2
33 autoimmune retinopathy 10.2
34 discoid lupus erythematosus 10.2
35 exanthema subitum 10.1 CD40 CD40LG
36 agammaglobulinemia, x-linked 10.1 CD40 CD40LG
37 waldenstrom macroglobulinemia 10.1 CD40 CD40LG
38 amyloidosis 10.1
39 neutropenia 10.1
40 immune deficiency disease 10.0 CD40 CD40LG
41 toxoplasmosis 10.0 CD40 CD40LG
42 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
43 lymphoproliferative syndrome, x-linked, 1 10.0
44 liver disease 10.0
45 lymphoproliferative syndrome 10.0
46 dysgammaglobulinemia 10.0
47 megaloblastic anemia 10.0
48 lipomatosis, multiple 9.9
49 cyclic neutropenia 9.9
50 systemic mastocytosis 9.9

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

MGI Mouse Phenotypes related to Cd40 Ligand Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 AICDA CD40 CD40LG HAX1 RNF31 UNG
2 immune system MP:0005387 9.1 AICDA CD40 CD40LG HAX1 RNF31 UNG

Drugs & Therapeutics for Cd40 Ligand Deficiency

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
2 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
3 gamma-Globulins Phase 4,Phase 3,Phase 2
4 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
5 Immunoglobulins Phase 4,Phase 3
6 Antibodies Phase 4,Phase 3
7 Immunoglobulin G Phase 3
8
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
9
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
10
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
11
Prednisolone phosphate Approved, Vet_approved Phase 2,Not Applicable 302-25-0
12
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
13
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
14
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 2,Not Applicable 2921-57-5
16
Vidarabine Approved, Investigational Phase 2,Not Applicable 24356-66-9 21704 32326
17
Cyclophosphamide Approved, Investigational Phase 2,Not Applicable 50-18-0, 6055-19-2 2907
18
Prednisolone hemisuccinate Experimental Phase 2,Not Applicable 2920-86-7
19
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
20 Vaccines Phase 2
21 Methylprednisolone Acetate Phase 2,Not Applicable
22 Cyclosporins Phase 2,Not Applicable
23 Prednisolone acetate Phase 2,Not Applicable
24 Anti-Infective Agents Phase 2,Not Applicable
25 Vidarabine Phosphate Phase 2
26 Alkylating Agents Phase 2,Not Applicable
27 Antirheumatic Agents Phase 2,Not Applicable
28 Antiviral Agents Phase 2,Not Applicable
29 Immunosuppressive Agents Phase 2,Not Applicable
30 Antimetabolites Phase 2,Not Applicable
31 Antimetabolites, Antineoplastic Phase 2,Not Applicable
32 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
33
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
34
Mesna Approved, Investigational Not Applicable 3375-50-6 598
35
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
36
Etoposide Approved Not Applicable 33419-42-0 36462
37
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
38
leucovorin Approved Not Applicable 58-05-9 143 6006
39
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
40 Protective Agents Not Applicable
41 Antineoplastic Agents, Immunological Not Applicable
42 Gastrointestinal Agents Not Applicable
43 Hormones Not Applicable
44 Nucleic Acid Synthesis Inhibitors Not Applicable
45 glucocorticoids Not Applicable
46 Hormone Antagonists Not Applicable
47 Autonomic Agents Not Applicable
48 Complement System Proteins Not Applicable
49 Folic Acid Antagonists Not Applicable
50 Topoisomerase Inhibitors Not Applicable

Interventional clinical trials:

(show all 16)
# 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 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
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 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
6 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
7 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, 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 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
10 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
11 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
12 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
13 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
14 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
15 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable 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:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin M Syndrome 30

Anatomical Context for Cd40 Ligand Deficiency

MalaCards organs/tissues related to Cd40 Ligand Deficiency:

42
B Cells, T Cells, Liver, Bone, Bone Marrow, Lymph Node, Small Intestine

Publications for Cd40 Ligand Deficiency

Articles related to Cd40 Ligand Deficiency:

(show all 38)
# Title Authors Year
1
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. ( 30660643 )
2019
2
CD40 ligand deficiency: treatment strategies and novel therapeutic perspectives. ( 30681380 )
2019
3
Successful Sequential Liver and Hematopoietic Stem Cell Transplantation in a Child With CD40 Ligand Deficiency and Cryptosporidium-Induced Liver Cirrhosis. ( 29377874 )
2018
4
CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ. ( 29518426 )
2018
5
Gastrointestinal histoplasmosis ileal stricture successfully treated with through-the-scope balloon dilation in a patient with hyperimmunoglobulin M syndrome. ( 29340926 )
2018
6
Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ. ( 27554817 )
2017
7
Liver Transplantation in a Patient With CD40 Ligand Deficiency and Hyper-IgM Syndrome: Clinical and Immunological Assessments. ( 26762604 )
2016
8
A Case Report of X-Linked Hyperimmunoglobulin M Syndrome with Lipoma Arborescens of Knees. ( 27818686 )
2016
9
Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. ( 25840720 )
2015
10
Hematopoietic Stem Cell Transplantation for CD40 Ligand Deficiency: Single Institution Experience. ( 26291959 )
2015
11
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again. ( 24308834 )
2014
12
Identification of germinal centres in the lymph node of a patient with hyperimmunoglobulin M syndrome associated with congenital rubella. ( 25113848 )
2014
13
Transitional cell carcinoma in a patient with X-linked hyperimmunoglobulin M syndrome. ( 25521976 )
2014
14
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. ( 23911390 )
2013
15
Molecular Diagnostic Challenges and Complex Management of Consecutive Twin Pregnancies in a Family with CD40 Ligand Deficiency. ( 21958324 )
2012
16
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. ( 22678466 )
2012
17
CD40 ligand deficiency with grade III liver fibrosis, transplanted by a treosulphan-based conditioning regimen. ( 21967264 )
2011
18
Nodularity of the small intestine in a child with systemic mastocytosis associated with hyperimmunoglobulin M syndrome. ( 21865968 )
2011
19
CD40 ligand deficiency: neurologic sequelae with radiographic correlation. ( 19931163 )
2009
20
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome. ( 18466034 )
2008
21
Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. ( 17303928 )
2007
22
JC virus granule cell neuronopathy in a child with CD40 ligand deficiency. ( 17352955 )
2007
23
Successful unrelated cord blood transplantation for a patient with CD40 ligand deficiency. ( 18056008 )
2007
24
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. ( 14525761 )
2004
25
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. ( 15273748 )
2004
26
Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. ( 11369571 )
2001
27
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
28
Mutation analysis and therapeutic response to granulocyte colony-stimulating factor in a case of hyperimmunoglobulin M syndrome with chronic neutropenia. ( 10864066 )
2000
29
T-cell-depleted bone marrow transplantation from unrelated donor for [correction of allogeneic sibling for] X-linked hyperimmunoglobulin M syndrome. ( 10931436 )
2000
30
A family with hyperimmunoglobulin M syndrome and systemic amyloidosis. ( 10978420 )
2000
31
Non-X-linked hyperimmunoglobulin M syndrome with chronic interstitial pneumonitis. ( 11206940 )
2000
32
Thymic lymphoproliferative disease after successful correction of CD40 ligand deficiency by gene transfer in mice. ( 9809548 )
1998
33
The X-linked hyperimmunoglobulin M syndrome. ( 9801261 )
1998
34
Acquired CD40-ligand deficiency in chronic lymphocytic leukemia. ( 9288724 )
1997
35
CD40 ligand deficiency presenting as unresponsive neutropenia. ( 8669967 )
1996
36
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. ( 8889581 )
1996
37
Hyperimmunoglobulin M syndrome associated with systemic amyloidosis type AA. ( 8801110 )
1995
38
[Successful treatment of cyclic neutropenia associated with hyperimmunoglobulin M syndrome using recombinant granulocyte-colony stimulating factor]. ( 7566951 )
1995

Variations for Cd40 Ligand Deficiency

ClinVar genetic disease variations for Cd40 Ligand Deficiency:

6 (show top 50) (show all 203)
# Gene Variation Type Significance SNP ID Assembly Location
1 AICDA NM_020661.3(AICDA): c.*1934C> T single nucleotide variant Uncertain significance rs104894981 NCBI36 Chromosome 12, 8646213: 8646213
2 AICDA NM_020661.3(AICDA): c.*1934C> T single nucleotide variant Uncertain significance rs104894981 GRCh37 Chromosome 12, 8754946: 8754946
3 AICDA NM_020661.3(AICDA): c.*1934C> T single nucleotide variant Uncertain significance rs104894981 GRCh38 Chromosome 12, 8602350: 8602350
4 AICDA NM_020661.3(AICDA): c.*446G> A single nucleotide variant Uncertain significance rs104894982 NCBI36 Chromosome 12, 8647701: 8647701
5 AICDA NM_020661.3(AICDA): c.*446G> A single nucleotide variant Uncertain significance rs104894982 GRCh37 Chromosome 12, 8756434: 8756434
6 AICDA NM_020661.3(AICDA): c.*446G> A single nucleotide variant Uncertain significance rs104894982 GRCh38 Chromosome 12, 8603838: 8603838
7 AICDA NM_020661.2(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 NCBI36 Chromosome 12, 8649295: 8649295
8 AICDA NM_020661.2(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 GRCh37 Chromosome 12, 8758028: 8758028
9 AICDA NM_020661.2(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 GRCh38 Chromosome 12, 8605432: 8605432
10 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh37 Chromosome 12, 8757481: 8757481
11 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh38 Chromosome 12, 8604885: 8604885
12 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh37 Chromosome 12, 8759569: 8759569
13 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh38 Chromosome 12, 8606973: 8606973
14 UNG NM_080911.2(UNG): c.-51A> T single nucleotide variant Uncertain significance rs375712849 GRCh38 Chromosome 12, 109097629: 109097629
15 UNG NM_080911.2(UNG): c.-51A> T single nucleotide variant Uncertain significance rs375712849 GRCh37 Chromosome 12, 109535434: 109535434
16 UNG NM_080911.2(UNG): c.544A> G (p.Ile182Val) single nucleotide variant Uncertain significance rs545691651 GRCh38 Chromosome 12, 109102849: 109102849
17 UNG NM_080911.2(UNG): c.544A> G (p.Ile182Val) single nucleotide variant Uncertain significance rs545691651 GRCh37 Chromosome 12, 109540654: 109540654
18 UNG NM_080911.2(UNG): c.623-9T> A single nucleotide variant Uncertain significance rs745983593 GRCh38 Chromosome 12, 109103424: 109103424
19 UNG NM_080911.2(UNG): c.623-9T> A single nucleotide variant Uncertain significance rs745983593 GRCh37 Chromosome 12, 109541229: 109541229
20 UNG NM_080911.2(UNG): c.*788dupT duplication Likely benign rs200602841 GRCh37 Chromosome 12, 109548562: 109548562
21 UNG NM_080911.2(UNG): c.*788dupT duplication Likely benign rs200602841 GRCh38 Chromosome 12, 109110757: 109110757
22 AICDA NM_020661.3(AICDA): c.*1173C> T single nucleotide variant Uncertain significance rs192088951 GRCh37 Chromosome 12, 8755707: 8755707
23 AICDA NM_020661.3(AICDA): c.*1173C> T single nucleotide variant Uncertain significance rs192088951 GRCh38 Chromosome 12, 8603111: 8603111
24 AICDA NM_020661.3(AICDA): c.*1137A> G single nucleotide variant Uncertain significance rs867594346 GRCh37 Chromosome 12, 8755743: 8755743
25 AICDA NM_020661.3(AICDA): c.*1137A> G single nucleotide variant Uncertain significance rs867594346 GRCh38 Chromosome 12, 8603147: 8603147
26 AICDA NM_020661.3(AICDA): c.*1106A> G single nucleotide variant Uncertain significance rs886049869 GRCh37 Chromosome 12, 8755774: 8755774
27 AICDA NM_020661.3(AICDA): c.*1106A> G single nucleotide variant Uncertain significance rs886049869 GRCh38 Chromosome 12, 8603178: 8603178
28 AICDA NM_020661.3(AICDA): c.*718C> A single nucleotide variant Likely benign rs74372815 GRCh37 Chromosome 12, 8756162: 8756162
29 AICDA NM_020661.3(AICDA): c.*718C> A single nucleotide variant Likely benign rs74372815 GRCh38 Chromosome 12, 8603566: 8603566
30 AICDA NM_020661.3(AICDA): c.*556T> G single nucleotide variant Uncertain significance rs3205190 GRCh37 Chromosome 12, 8756324: 8756324
31 AICDA NM_020661.3(AICDA): c.*556T> G single nucleotide variant Uncertain significance rs3205190 GRCh38 Chromosome 12, 8603728: 8603728
32 AICDA NM_020661.3(AICDA): c.*554T> C single nucleotide variant Uncertain significance rs886049874 GRCh37 Chromosome 12, 8756326: 8756326
33 AICDA NM_020661.3(AICDA): c.*554T> C single nucleotide variant Uncertain significance rs886049874 GRCh38 Chromosome 12, 8603730: 8603730
34 AICDA NM_020661.3(AICDA): c.*288C> T single nucleotide variant Uncertain significance rs886049875 GRCh37 Chromosome 12, 8756592: 8756592
35 AICDA NM_020661.3(AICDA): c.*288C> T single nucleotide variant Uncertain significance rs886049875 GRCh38 Chromosome 12, 8603996: 8603996
36 UNG NM_080911.2(UNG): c.6C> A (p.Ile2=) single nucleotide variant Uncertain significance rs886048905 GRCh38 Chromosome 12, 109097685: 109097685
37 UNG NM_080911.2(UNG): c.6C> A (p.Ile2=) single nucleotide variant Uncertain significance rs886048905 GRCh37 Chromosome 12, 109535490: 109535490
38 UNG NM_080911.2(UNG): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance rs886048906 GRCh38 Chromosome 12, 109097779: 109097779
39 UNG NM_080911.2(UNG): c.100G> A (p.Ala34Thr) single nucleotide variant Uncertain significance rs886048906 GRCh37 Chromosome 12, 109535584: 109535584
40 UNG NM_080911.2(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 GRCh38 Chromosome 12, 109101994: 109101994
41 UNG NM_080911.2(UNG): c.528G> A (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs373915335 GRCh37 Chromosome 12, 109539799: 109539799
42 UNG NM_080911.2(UNG): c.660C> T (p.Ala220=) single nucleotide variant Uncertain significance rs572632781 GRCh38 Chromosome 12, 109103470: 109103470
43 UNG NM_080911.2(UNG): c.660C> T (p.Ala220=) single nucleotide variant Uncertain significance rs572632781 GRCh37 Chromosome 12, 109541275: 109541275
44 UNG NM_080911.2(UNG): c.*159G> A single nucleotide variant Uncertain significance rs886048907 GRCh37 Chromosome 12, 109547933: 109547933
45 UNG NM_080911.2(UNG): c.*159G> A single nucleotide variant Uncertain significance rs886048907 GRCh38 Chromosome 12, 109110128: 109110128
46 UNG NM_080911.2(UNG): c.*522A> G single nucleotide variant Uncertain significance rs189054927 GRCh37 Chromosome 12, 109548296: 109548296
47 UNG NM_080911.2(UNG): c.*522A> G single nucleotide variant Uncertain significance rs189054927 GRCh38 Chromosome 12, 109110491: 109110491
48 UNG NM_080911.2(UNG): c.*545A> G single nucleotide variant Uncertain significance rs562354759 GRCh37 Chromosome 12, 109548319: 109548319
49 UNG NM_080911.2(UNG): c.*545A> G single nucleotide variant Uncertain significance rs562354759 GRCh38 Chromosome 12, 109110514: 109110514
50 UNG NM_080911.2(UNG): c.*708T> C single nucleotide variant Uncertain significance rs150677845 GRCh37 Chromosome 12, 109548482: 109548482

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:

# Name GO ID Score Top Affiliating Genes
1 P-body GO:0000932 8.96 AICDA HAX1
2 CD40 receptor complex GO:0035631 8.62 CD40 RNF31

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

# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 9.46 AICDA CD40LG
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 CD40 CD40LG
3 B cell proliferation GO:0042100 9.4 CD40 CD40LG
4 positive regulation of interleukin-12 production GO:0032735 9.37 CD40 CD40LG
5 positive regulation of endothelial cell apoptotic process GO:2000353 9.32 CD40 CD40LG
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 AICDA UNG
7 isotype switching GO:0045190 9.16 AICDA CD40LG
8 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.13 CD40 CD40LG RNF31
9 regulation of immunoglobulin secretion GO:0051023 8.62 CD40 CD40LG

Molecular functions related to Cd40 Ligand Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.8 AICDA CD40 RNF31

Sources for Cd40 Ligand Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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