HIGM1
MCID: CD4003
MIFTS: 53

Cd40 Ligand Deficiency (HIGM1)

Categories: Gastrointestinal diseases, Genetic diseases, Immune diseases, Neuronal diseases

Aliases & Classifications for Cd40 Ligand Deficiency

MalaCards integrated aliases for Cd40 Ligand Deficiency:

Name: Cd40 Ligand Deficiency 12 15 70
Hyperimmunoglobulin M Syndrome 12 29 6 70
X-Linked Hyper Igm Syndrome 12 25 43 15
X-Linked Hyper-Igm Syndrome 12 6
Higm1 25 43
Hyper-Igm Immunodeficiency Syndrome, Type 1 70
Immunodeficiency with Hyper-Igm, Type 1 43
X-Linked Hyper-Igm Immunodeficiency 25
Hyper-Igm Immunodeficiency Syndrome 44
Hyper-Igm Syndrome 1 43
Higmx-1 12
Xhigm 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0060022 DOID:6620
MeSH 44 D053306
NCIt 50 C3990
SNOMED-CT 67 82286005
UMLS 70 C0272236 C0398689 C2348037

Summaries for Cd40 Ligand Deficiency

MedlinePlus Genetics : 43 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.Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of lymphoma, which is a cancer of immune system cells.The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.

MalaCards based summary : Cd40 Ligand Deficiency, also known as hyperimmunoglobulin m syndrome, is related to immunodeficiency with hyper-igm, type 4 and immunodeficiency with hyper-igm, type 5, and has symptoms including diarrhea An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Rho(D) Immune Globulin and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and lung, and related phenotypes are cellular and hematopoietic system

Disease Ontology : 12 A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has material basis in a mutation in the CD40LG gene (300386) on chromosome Xq26.

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 359)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 4 31.6 CD40LG CD40 CD27 AICDA
2 immunodeficiency with hyper-igm, type 5 31.6 TNFRSF13B CD40LG CD40 AICDA
3 immunodeficiency with hyper-igm, type 2 31.3 TNFRSF13B ICOSLG CD40LG CD40 AICDA
4 toxoplasmosis 30.9 IFNG CD40LG CD40
5 light fixation seizure syndrome 30.6 CD40LG CD40
6 immunodeficiency with hyper-igm, type 1 30.4 TNFRSF13B IKBKG ICOSLG CD8A CD40LG CD40
7 allergic disease 30.3 IFNG ICOSLG CD40 CD27
8 immunodeficiency with hyper-igm, type 3 30.3 IKBKG ICOSLG DOCK8 CD8A CD40LG CD40
9 crohn's disease 30.3 IFNG ICOSLG CD40 CD4
10 hemophagocytic lymphohistiocytosis 30.2 SH2D1A IFNG CD27
11 cryptococcosis 30.1 IFNG CD8A CD4
12 meningoencephalitis 30.1 CD8A CD40LG CD4
13 cellulitis 30.1 CSF3 CD8A CD4
14 histoplasmosis 29.9 IFNG CD8A CD4
15 poliomyelitis 29.8 IFNG CD8A CD4 BTK
16 mycobacterium tuberculosis 1 29.8 IFNG ICOSLG CD8A CD4
17 agammaglobulinemia 29.7 TNFRSF13B SH2D1A ICOSLG CD40LG CD40 BTK
18 dysgammaglobulinemia 29.7 TNFRSF13B SH2D1A ICOSLG CD8A
19 hemorrhagic cystitis 29.6 CSF3 CD8A CD4
20 progressive multifocal leukoencephalopathy 29.6 ICOSLG CD8A CD40LG CD4
21 bacterial infectious disease 29.6 IFNG ICOSLG CSF3 CD4 BTK
22 cryptosporidiosis 29.5 IFNG CSF3 CD8A CD40LG CD4
23 demyelinating disease 29.4 IFNG ICOSLG CD8A CD40LG CD4
24 chickenpox 29.4 IFNG ICOSLG DOCK8 CD8A CD4 CD27
25 systemic lupus erythematosus 29.2 TNFRSF13B IFNG ICOSLG CSF3 CD40LG CD40
26 pneumocystosis 29.2 CSF3 CD8A CD40LG CD4 BTK
27 agammaglobulinemia, x-linked 29.1 ZAP70 TNFRSF13B ICOSLG CD40LG CD40 CD4
28 immunoglobulin alpha deficiency 29.0 TNFRSF13B ICOSLG CD8A CD40LG CD40 CD4
29 combined immunodeficiency 28.8 ZAP70 JAK3 IL2RG IKBKG IFNG ICOSLG
30 severe combined immunodeficiency 28.6 ZAP70 JAK3 IL2RG IFNG DCLRE1C CSF3
31 common variable immunodeficiency 28.5 ZAP70 TNFRSF13B SH2D1A JAK3 IFNG ICOSLG
32 leukemia, chronic lymphocytic 27.6 ZAP70 TNFRSF13B ICOSLG CSF3 CD8A CD40LG
33 immune deficiency disease 26.2 ZAP70 TNFRSF13B SH2D1A JAK3 IL2RG IKBKG
34 sulfamethoxazole allergy 10.4 CD40LG CD40
35 fixed drug eruption 10.4 IFNG CD27
36 panophthalmitis 10.4 IFNG CD4
37 ocular tuberculosis 10.4 IFNG CD4
38 pericardial tuberculosis 10.4 IFNG CD4
39 adult respiratory distress syndrome 10.4
40 penicilliosis 10.3 IFNG CD4
41 inflammatory bowel disease 16 10.3 CD40LG CD40
42 opportunistic bacterial infectious disease 10.3 IFNG CD4
43 nocardiosis 10.3 IFNG CD4
44 congenital syphilis 10.3 CD40LG CD4
45 polyarticular juvenile idiopathic arthritis 10.3 IFNG BTK
46 gastrointestinal tuberculosis 10.3 IFNG CD4
47 neutropenia 10.3
48 plasmodium vivax malaria 10.3 IFNG CD40LG CD40
49 immunodeficiency 33 10.3 IKBKG BTK
50 erythema infectiosum 10.3 CD40LG CD4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 AICDA BTK CD27 CD4 CD40LG CD8A
2 hematopoietic system MP:0005397 10.25 AICDA BTK CD27 CD4 CD40 CD40LG
3 immune system MP:0005387 10.19 AICDA BTK CD27 CD4 CD40 CD40LG
4 endocrine/exocrine gland MP:0005379 10.07 CD4 CD40 CD40LG CD8A DCLRE1C IFNG
5 digestive/alimentary MP:0005381 9.95 AICDA BTK CD4 IFNG IKBKG IL2RG
6 integument MP:0010771 9.81 AICDA BTK CD4 CD40LG CD8A CSF3
7 neoplasm MP:0002006 9.43 AICDA BTK IFNG IKBKG IL2RG TNFRSF13B
8 normal MP:0002873 9.23 AICDA CD4 CD40 CD8A IFNG IKBKG

Drugs & Therapeutics for Cd40 Ligand Deficiency

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Rho(D) Immune Globulin Phase 4
2 gamma-Globulins Phase 4
3 Immunoglobulins, Intravenous Phase 4
4 Immunologic Factors Phase 3
5 Immunoglobulins Phase 3
6 Antibodies Phase 3
7 Immunoglobulin G Phase 3
8 Vaccines Phase 2
9
Fludarabine Approved 21679-14-1, 75607-67-9 30751
10
Mesna Approved, Investigational 3375-50-6 598
11
Melphalan Approved 148-82-3 4053 460612
12
Vidarabine Approved, Investigational 24356-66-9 32326 21704
13
alemtuzumab Approved, Investigational 216503-57-0
14
Busulfan Approved, Investigational 55-98-1 2478
15
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
16
Methotrexate Approved 1959-05-2, 59-05-2 126941
17
Methylprednisolone Approved, Vet_approved 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved 2921-57-5
19
Levoleucovorin Approved, Investigational 68538-85-2 149436
20
Prednisolone Approved, Vet_approved 50-24-8 5755
21
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
22
Prednisolone acetate Approved, Vet_approved 52-21-1
23
Clotrimazole Approved, Vet_approved 23593-75-1 2812
24
Prednisone Approved, Vet_approved 53-03-2 5865
25
Etoposide Approved 33419-42-0 36462
26
Prednisolone phosphate Approved, Vet_approved 302-25-0
27
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
28
Prednisolone hemisuccinate Experimental 2920-86-7
29 Antineoplastic Agents, Immunological
30 Antiviral Agents
31 Antirheumatic Agents
32 Immunosuppressive Agents
33 Protective Agents
34 Alkylating Agents
35 Anti-Infective Agents
36 Antimetabolites
37 Complement System Proteins
38 Vitamin B9
39 Methylprednisolone Acetate
40 Folic Acid Antagonists
41 Hormones
42 Gastrointestinal Agents
43 Antiemetics
44 Folate
45 Neuroprotective Agents
46 Etoposide phosphate
47 Antilymphocyte Serum
48 Hormone Antagonists
49 glucocorticoids
50 Antineoplastic Agents, Hormonal

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
2 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
3 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
4 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
5 Study of Immune Responses and Safety of Recombinant CD40 Ligand in Patients With X-Linked Hyper IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
6 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
7 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
8 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
9 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:

# Genetic test Affiliating Genes
1 Hyperimmunoglobulin M Syndrome 29

Anatomical Context for Cd40 Ligand Deficiency

MalaCards organs/tissues related to Cd40 Ligand Deficiency:

40
Spinal Cord, Bone Marrow, Lung, Skin, Bone, B Cells, T Cells

Publications for Cd40 Ligand Deficiency

Articles related to Cd40 Ligand Deficiency:

(show top 50) (show all 275)
# Title Authors PMID Year
1
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. 61 6 25
18805740 2008
2
Autoimmune retinopathy with RPE hypersensitivity and 'negative ERG' in X-linked hyper-IgM syndrome. 6 25 61
16019685 2005
3
Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives. 25 6 61
15623492 2005
4
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 25 6 61
9746782 1998
5
Hyper IgM Syndrome: a Report from the USIDNET Registry. 6 25
27189378 2016
6
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. 25 6
24402618 2014
7
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. 25 6
15358621 2005
8
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. 6 61
22678466 2012
9
Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature. 6 61
20981468 2010
10
Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China. 61 6
20591076 2010
11
Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene. 61 6
18955577 2008
12
X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa. 6 61
14641931 2003
13
CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals. 61 6
10559240 1999
14
An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome). 6 61
10366125 1999
15
Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome. 61 6
16509032 1996
16
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. 6 61
8889581 1996
17
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 61 6
8550833 1996
18
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 6 61
7679801 1993
19
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. 6 61
7678782 1993
20
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. 61 25
30660643 2019
21
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome. 61 25
30682461 2019
22
CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ. 25 61
29518426 2018
23
Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India. 61 25
30053428 2018
24
Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome. 25 61
29847792 2018
25
Disseminated Cutaneous Warts in X-Linked Hyper IgM Syndrome. 25 61
29730845 2018
26
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 2018
27
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. 61 25
27697500 2017
28
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome. 61 25
26903548 2016
29
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 6
25541662 2014
30
Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome. 25 61
25215306 2014
31
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. 6
19575287 2009
32
Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants. 6
17351759 2007
33
HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene. 6
17146684 2007
34
Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation. 6
16169277 2005
35
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 6
15924140 2005
36
Cutaneous sarcoid-like granulomas in a patient with X-linked hyper-IgM syndrome. 61 25
14871324 2004
37
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. 25 61
14663287 2003
38
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability. 25 61
11801691 2002
39
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 25 61
11675497 2001
40
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. 6
11158612 2001
41
The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. 6
10484640 1999
42
Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. 25 61
10207167 1999
43
CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization. 61 25
9933119 1999
44
Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome. 61 25
9710455 1998
45
Clinical spectrum of X-linked hyper-IgM syndrome. 61 25
9255191 1997
46
2 A crystal structure of an extracellular fragment of human CD40 ligand. 6
8589998 1995
47
Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. 6
7586644 1995
48
CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. 6
7916370 1994
49
The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1. 61 25
7518839 1994
50
C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome. 6
7906987 1994

Variations for Cd40 Ligand Deficiency

ClinVar genetic disease variations for Cd40 Ligand Deficiency:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD40LG NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) SNV Pathogenic 11163 rs104894775 GRCh37: X:135741207-135741207
GRCh38: X:136659048-136659048
2 CD40LG NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) SNV Pathogenic 11164 rs104894777 GRCh37: X:135741206-135741206
GRCh38: X:136659047-136659047
3 CD40LG NM_000074.3:c.347_409del Deletion Pathogenic 11165 GRCh37:
GRCh38:
4 CD40LG CD40LG, 8-BP DEL Deletion Pathogenic 11166 GRCh37:
GRCh38:
5 CD40LG CD40LG, 10-BP DEL Deletion Pathogenic 11167 GRCh37:
GRCh38:
6 CD40LG NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) SNV Pathogenic 11168 rs104894778 GRCh37: X:135738536-135738536
GRCh38: X:136656377-136656377
7 CD40LG CD40LG, 1-BP INS, TTT-TTTT, FS84TER Insertion Pathogenic 11169 GRCh37:
GRCh38:
8 CD40LG CD40LG, ALU INS, EX1 Insertion Pathogenic 11170 GRCh37:
GRCh38:
9 CD40LG NM_000074.3(CD40LG):c.347-1G>A SNV Pathogenic 928859 GRCh37: X:135738514-135738514
GRCh38: X:136656355-136656355
10 CD40LG NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) SNV Pathogenic 11157 rs104894771 GRCh37: X:135741491-135741491
GRCh38: X:136659332-136659332
11 CD40LG NM_000074.2(CD40LG):c.384T>A (p.Ser128Arg) SNV Pathogenic 11158 rs104894773 GRCh37: X:135738552-135738552
GRCh38: X:136656393-136656393
12 CD40LG NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) SNV Pathogenic 11159 rs104894768 GRCh37: X:135741468-135741468
GRCh38: X:136659309-136659309
13 CD40LG NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) SNV Pathogenic 11160 rs104894769 GRCh37: X:135741252-135741252
GRCh38: X:136659093-136659093
14 CD40LG CD40LG, THR211ASP Variation Pathogenic 11161 GRCh37:
GRCh38:
15 CD40LG NM_000074.2(CD40LG):c.304_314del (p.Lys102fs) Deletion Pathogenic 566114 rs1569376925 GRCh37: X:135736545-135736555
GRCh38: X:136654386-136654396
16 CD40LG NM_000074.2(CD40LG):c.421G>C (p.Ala141Pro) SNV Pathogenic 430909 rs1387503550 GRCh37: X:135741209-135741209
GRCh38: X:136659050-136659050
17 CD40LG NC_000023.11:g.(?_136648058)_(136659435_?)del Deletion Pathogenic 660153 GRCh37: X:135730217-135741594
GRCh38: X:136648058-136659435
18 CD40LG NC_000023.11:g.(?_136654353)_(136654450_?)del Deletion Pathogenic 639868 GRCh37: X:135736512-135736609
GRCh38: X:136654353-136654450
19 CD40LG NM_000074.3(CD40LG):c.359del (p.Pro120fs) Deletion Pathogenic 830068 rs1603321138 GRCh37: X:135738526-135738526
GRCh38: X:136656367-136656367
20 CD40LG NC_000023.11:g.(?_136648058)_(136654450_?)del Deletion Pathogenic 831629 GRCh37: X:135730217-135736609
GRCh38:
21 CD40LG NM_000074.3(CD40LG):c.386del (p.Glu129fs) Deletion Pathogenic 846264 GRCh37: X:135738554-135738554
GRCh38: X:136656395-136656395
22 CD40LG NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) Duplication Pathogenic 854923 GRCh37: X:135741294-135741295
GRCh38: X:136659135-136659136
23 CD40LG NM_000074.3(CD40LG):c.474del (p.Lys159fs) Deletion Pathogenic 860268 GRCh37: X:135741260-135741260
GRCh38: X:136659101-136659101
24 CD40LG NM_000074.3(CD40LG):c.401del (p.Thr134fs) Deletion Pathogenic 863227 GRCh37: X:135738569-135738569
GRCh38: X:136656410-136656410
25 CD40LG NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) SNV Pathogenic 954151 GRCh37: X:135741344-135741344
GRCh38: X:136659185-136659185
26 CD40LG NM_000074.3(CD40LG):c.133del (p.Tyr45fs) Deletion Pathogenic 962343 GRCh37: X:135730540-135730540
GRCh38: X:136648381-136648381
27 CD40LG NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) SNV Pathogenic 963550 GRCh37: X:135741558-135741558
GRCh38: X:136659399-136659399
28 CD40LG NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) SNV Pathogenic 976233 GRCh37: X:135741206-135741206
GRCh38: X:136659047-136659047
29 CD40LG NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) SNV Pathogenic 934686 GRCh37: X:135741482-135741482
GRCh38: X:136659323-136659323
30 CD40LG NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) SNV Pathogenic 35812 rs193922135 GRCh37: X:135730438-135730438
GRCh38: X:136648279-136648279
31 CD40LG NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) SNV Pathogenic 35814 rs193922136 GRCh37: X:135741549-135741549
GRCh38: X:136659390-136659390
32 CD40LG NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) SNV Pathogenic 35814 rs193922136 GRCh37: X:135741549-135741549
GRCh38: X:136659390-136659390
33 CD40LG NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) SNV Likely pathogenic 984484 GRCh37: X:135736583-135736583
GRCh38: X:136654424-136654424
34 CD40LG NC_000023.11:g.(?_136650246)_(136654450_?)del Deletion Likely pathogenic 530674 GRCh37: X:135732405-135736609
GRCh38: X:136650246-136654450
35 CD40LG NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter) SNV Likely pathogenic 650284 rs1603321772 GRCh37: X:135741308-135741308
GRCh38: X:136659149-136659149
36 CD40LG NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter) SNV Likely pathogenic 660932 rs1603321834 GRCh37: X:135741449-135741449
GRCh38: X:136659290-136659290
37 CD40LG NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) SNV Likely pathogenic 633145 rs1569377829 GRCh37: X:135741420-135741420
GRCh38: X:136659261-136659261
38 CD40LG NM_000074.2(CD40LG):c.288+1G>A SNV Likely pathogenic 633147 rs1569376229 GRCh37: X:135732557-135732557
GRCh38: X:136650398-136650398
39 CD40LG NM_000074.2(CD40LG):c.322_325delGAAA Microsatellite Likely pathogenic 568935 rs1569376930 GRCh37: X:135736559-135736562
GRCh38: X:136654400-136654403
40 CD40LG NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) SNV Likely pathogenic 11162 rs104894774 GRCh37: X:135730514-135730514
GRCh38: X:136648355-136648355
41 CD40LG NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) SNV Likely pathogenic 530671 rs193922136 GRCh37: X:135741549-135741549
GRCh38: X:136659390-136659390
42 CD40LG NM_000074.2(CD40LG):c.189del (p.Phe63fs) Deletion Likely pathogenic 35811 rs193922134 GRCh37: X:135732454-135732454
GRCh38: X:136650295-136650295
43 CD40LG NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser) SNV Uncertain significance 569900 rs1569377884 GRCh37: X:135741561-135741561
GRCh38: X:136659402-136659402
44 CD40LG NM_000074.2(CD40LG):c.403_405delACA Microsatellite Uncertain significance 572191 rs1490893550 GRCh37: X:135738567-135738569
GRCh38: X:136656408-136656410
45 CD40LG NM_000074.2(CD40LG):c.330C>A (p.Ser110Arg) SNV Uncertain significance 575442 rs368691563 GRCh37: X:135736573-135736573
GRCh38: X:136654414-136654414
46 CD40LG NM_000074.3(CD40LG):c.410-3_410-2del Deletion Uncertain significance 662332 rs1603321716 GRCh37: X:135741194-135741195
GRCh38: X:136659035-136659036
47 CD40LG NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) SNV Uncertain significance 381652 rs1057521127 GRCh37: X:135741228-135741228
GRCh38: X:136659069-136659069
48 CD40LG NM_000074.2(CD40LG):c.508_510delTAT Microsatellite Uncertain significance 656661 rs1603321765 GRCh37: X:135741293-135741295
GRCh38: X:136659134-136659136
49 CD40LG NM_000074.2(CD40LG):c.7G>A (p.Glu3Lys) SNV Uncertain significance 659718 rs1350282799 GRCh37: X:135730414-135730414
GRCh38: X:136648255-136648255
50 CD40LG NM_000074.2(CD40LG):c.379A>G (p.Ile127Val) SNV Uncertain significance 636846 rs1052924444 GRCh37: X:135738547-135738547
GRCh38: X:136656388-136656388

Expression for Cd40 Ligand Deficiency

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

Pathways for Cd40 Ligand Deficiency

Pathways related to Cd40 Ligand Deficiency according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 ZAP70 TNFRSF13B SH2D1A JAK3 IL2RG IKBKG
2
Show member pathways
13.81 ZAP70 TNFRSF13B JAK3 IL2RG CSF3 CD40LG
3
Show member pathways
13.61 TNFRSF13B JAK3 IL2RG IKBKG IFNG CSF3
4
Show member pathways
13.44 ZAP70 SH2D1A IKBKG ICOSLG CD8A CD40LG
5
Show member pathways
13.29 ZAP70 TNFRSF13B JAK3 IL2RG IKBKG CSF3
6
Show member pathways
13.27 TNFRSF13B JAK3 IL2RG IKBKG IFNG CSF3
7
Show member pathways
13.23 TNFRSF13B IL2RG IKBKG CSF3 CD40LG CD40
8
Show member pathways
13.17 JAK3 IKBKG IFNG CD40LG CD40 BTK
9
Show member pathways
12.82 JAK3 IL2RG IKBKG IFNG CD40 BTK
10
Show member pathways
12.82 JAK3 IL2RG IKBKG IFNG CD40 BTK
11
Show member pathways
12.78 TNFRSF13B IFNG ICOSLG CD8A CD40LG CD40
12
Show member pathways
12.62 JAK3 IKBKG IFNG CD40LG CD40 CD4
13
Show member pathways
12.61 TNFRSF13B IKBKG CD40LG CD40 CD27
14
Show member pathways
12.59 ZAP70 IKBKG IFNG CD8A CD40LG CD4
15
Show member pathways
12.58 ZAP70 JAK3 IL2RG IKBKG IFNG CD4
16
Show member pathways
12.43 ZAP70 CD40 CD4 BTK
17
Show member pathways
12.42 ZAP70 IKBKG IFNG ICOSLG CD40LG CD40
18
Show member pathways
12.39 JAK3 IL2RG IFNG CSF3
19 12.36 JAK3 IL2RG IKBKG CD40 CD4
20
Show member pathways
12.26 IKBKG IFNG CD40LG CD40
21
Show member pathways
12.25 ZAP70 IL2RG IKBKG ICOSLG CD40LG CD40
22 12.17 ZAP70 SH2D1A JAK3 IKBKG IFNG DCLRE1C
23 12.13 ICOSLG CD8A CD40LG CD40 CD4
24 12.11 ZAP70 IKBKG CD8A CD4
25 12.1 SH2D1A CD8A CD40LG CD40
26
Show member pathways
12.09 JAK3 IL2RG IFNG BTK
27 12.02 IFNG CSF3 CD8A CD4
28
Show member pathways
12 IL2RG IFNG CD8A CD4
29
Show member pathways
11.97 ZAP70 IKBKG CD8A CD4
30 11.91 ZAP70 IKBKG CD40LG CD40 BTK
31
Show member pathways
11.9 JAK3 IL2RG IKBKG CSF3
32
Show member pathways
11.88 JAK3 IL2RG IFNG CD4
33 11.87 CSF3 CD8A CD4
34
Show member pathways
11.83 TNFRSF13B CD40LG CD40 CD27
35 11.77 IFNG CD8A CD4
36
Show member pathways
11.76 TNFRSF13B IKBKG CD40LG CD40
37 11.73 IFNG CD8A CD4
38 11.71 ZAP70 CD8A CD4
39 11.71 TNFRSF13B ICOSLG CD40LG CD40
40 11.68 JAK3 IL2RG CD40LG AICDA
41
Show member pathways
11.64 IL2RG IFNG CD8A
42 11.55 IFNG CSF3 CD40LG CD40
43 11.5 JAK3 IL2RG IFNG CD4
44 11.32 JAK3 CD40LG CD40
45 11.29 IFNG CSF3 CD4
46 11.07 ZAP70 IL2RG IFNG CD40LG CD40
47 10.98 ZAP70 TNFRSF13B JAK3 IL2RG IKBKG DCLRE1C
48 10.64 IKBKG CD40

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 plasma membrane GO:0005886 9.73 ZAP70 TNFRSF13B JAK3 IL2RG ICOSLG DOCK8
2 integral component of plasma membrane GO:0005887 9.7 TNFRSF13B IL2RG CD8A CD40LG CD40 CD4
3 cell surface GO:0009986 9.65 IL2RG CD40LG CD40 CD4 CD27
4 external side of plasma membrane GO:0009897 9.17 IL2RG ICOSLG CD8A CD40LG CD40 CD4

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.02 ZAP70 SH2D1A JAK3 IKBKG BTK
2 cytokine-mediated signaling pathway GO:0019221 9.92 JAK3 IL2RG CSF3 CD4
3 regulation of immune response GO:0050776 9.85 SH2D1A CD8A CD40LG CD40
4 cell surface receptor signaling pathway GO:0007166 9.85 TNFRSF13B IFNG CD8A CD4 CD27
5 T cell receptor signaling pathway GO:0050852 9.83 ZAP70 IKBKG ICOSLG CD4
6 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.81 IKBKG CD40LG CD40 BTK
7 immune response GO:0006955 9.76 ZAP70 IL2RG IKBKG IFNG CSF3 CD8A
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.73 TNFRSF13B CD40LG CD40 CD27
9 positive regulation of T cell proliferation GO:0042102 9.71 JAK3 CD40LG CD4
10 B cell differentiation GO:0030183 9.71 JAK3 DCLRE1C CD40LG AICDA
11 positive regulation of interleukin-12 production GO:0032735 9.65 IFNG CD40LG CD40
12 immune system process GO:0002376 9.65 ZAP70 TNFRSF13B SH2D1A JAK3 ICOSLG DCLRE1C
13 positive regulation of calcium-mediated signaling GO:0050850 9.63 ZAP70 CD4
14 T cell activation GO:0042110 9.62 ZAP70 ICOSLG CD8A CD4
15 positive regulation of B cell differentiation GO:0045579 9.61 CD27 BTK
16 interleukin-2-mediated signaling pathway GO:0038110 9.61 JAK3 IL2RG
17 negative regulation of T cell apoptotic process GO:0070233 9.6 DOCK8 CD27
18 interleukin-9-mediated signaling pathway GO:0038113 9.59 JAK3 IL2RG
19 CD40 signaling pathway GO:0023035 9.58 CD40LG CD40
20 regulation of immunoglobulin production GO:0002637 9.58 CD40LG CD40
21 interleukin-21-mediated signaling pathway GO:0038114 9.57 JAK3 IL2RG
22 enzyme linked receptor protein signaling pathway GO:0007167 9.56 JAK3 CD4
23 B cell activation GO:0042113 9.56 ZAP70 ICOSLG CD40 BTK
24 interleukin-15-mediated signaling pathway GO:0035723 9.54 JAK3 IL2RG CD4
25 interleukin-4-mediated signaling pathway GO:0035771 9.49 JAK3 IL2RG
26 adaptive immune response GO:0002250 9.32 ZAP70 TNFRSF13B SH2D1A JAK3 IFNG ICOSLG

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 ZAP70 TNFRSF13B SH2D1A JAK3 IL2RG IKBKG
2 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 ZAP70 JAK3 BTK

Sources for Cd40 Ligand Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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