CD40LG gene related symptoms and diseases

All the information presented here about the CD40LG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to CD40LG gene

Symptoms // Phenotype	% Cases
Immunodeficiency	Common - Between 50% and 80% cases
Absence of lymph node germinal center	Common - Between 50% and 80% cases
Impaired Ig class switch recombination	Common - Between 50% and 80% cases
Recurrent bacterial infections	Common - Between 50% and 80% cases
Recurrent lower respiratory tract infections	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CD40LG gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Increased IgM level
Agranulocytosis
Enlarged tonsils
Decreased T cell activation
Cholangiocarcinoma
Sclerosing cholangitis
Chronic hepatitis
Dysgammaglobulinemia

And 64 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CD40LG gene

Here you will find a list of rare diseases related to the CD40LG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

X-LINKED HYPER-IGM SYNDROME

Alternate names

X-LINKED HYPER-IGM SYNDROME Is also known as hyper-igm syndrome 4, hyper-igm syndrome type 1, hyper-igm syndrome due to cd40l deficiency, higm1, xhigm, hyper-igm syndrome due to cd40 ligand deficiency

Description

Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

Most common symptoms of X-LINKED HYPER-IGM SYNDROME

Immunodeficiency
Bronchiectasis
Recurrent bacterial infections
Recurrent upper respiratory tract infections
Myelodysplasia

More info about X-LINKED HYPER-IGM SYNDROME

SOURCES: ORPHANET OMIM

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Alternate names

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked, hyper-igm syndrome 1, ihis, hyper-igm syndrome, xhim, imd3, higm, immunodeficiency 3

Description

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

Most common symptoms of IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Seizures
Global developmental delay
Failure to thrive
Cognitive impairment
Anemia

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

SOURCES: OMIM

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

Alternate names

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION Is also known as x-linked acrogigantism, familial infantile gigantism due to xq26 microduplication, familial infantile gigantism due to dup(x)q(26), xlag, chromosome xq26 microduplication syndrome, x-lag (x-linked acrogigantism) due to dup(x)q(26)

Description

X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

Most common symptoms of X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

Neoplasm
Coarse facial features
Overgrowth
Ventricular hypertrophy
Tall stature

More info about X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

SOURCES: ORPHANET OMIM

Search interest in CD40LG

Potential gene panels for CD40LG gene

Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5 for HIGM1) (Full Gene Sequencing) Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the CD40LG gene.

CD40LG gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CD40LG gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to CD40LG gene

X-LINKED HYPER-IGM SYNDROME

Alternate names

Description

Most common symptoms of X-LINKED HYPER-IGM SYNDROME

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Alternate names

Description

Most common symptoms of IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

Alternate names

Description

Most common symptoms of X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

Search interest in CD40LG

Potential gene panels for CD40LG gene

Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5 for HIGM1) (Full Gene Sequencing) Panel

Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1 (Known mutation) Panel

Hyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing) Panel

CD40LG Sequencing Panel

CD40LG Deletion/duplication analysis Panel

Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel

Humoral dysfunction Del/Dup Panel Panel

Humoral dysfunction Seq Analysis Panel

Humoral dysfunction Seq + Del/Dup Panel Panel

Immunodeficiency, X-linked with hyper-IgM (sequence analysis of CD40LG gene) Panel

Immunodeficiency with hyper IgM type 1 Panel

X-Linked Hyper IgM Syndrome via CD40LG Gene Sequencing with CNV Detection Panel

Hyper IgM Syndrome Sequencing Panel with CNV Detection Panel

CD40 Ligand gene Panel

CD40LG Panel

B cell pathology panel Panel

Severe combined immunodeficiency (SCID) panel Panel

Immunodeficiency, X-linked, with hyper-IgM Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Antibody deficiencies Panel Panel

Combined immunodeficiencies Panel Panel

qCarrier Plus Panel

Invitae Monogenic Autoimmunity Panel Panel

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

Invitae Primary Immunodeficiency Panel Panel

Invitae Hyper IgM Syndrome Panel Panel

Invitae Combined Immunodeficiency (CID) Panel Panel

X-linked Hyper-IgM syndrome: CD40LG gene sequence analysis Panel

Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel

CD40LG Panel

Primary Immunodeficiency Panel Panel

Severe Combined Immunodeficiency Panel Panel

Immunodeficiency, X-linked, with hyper-IgM Panel

Immune Report Card Panel

HYPER-IgM SYNDROME TYPE 1 (X-LINKED) Panel

X-Linked Hyper IgM Syndrome, Sequencing CD40LG Gene Panel

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Hyper IgM Syndrome ,Panel Massive Sequencing (NGS) 4 Genes Panel

Tempus xO assay Panel

Hyper IgM Syndrome: gene sequencing Panel

Hyper IgM Syndrome: gene deletion/duplication Panel