NFKB2 gene related symptoms and diseases
All the information presented here about the NFKB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NFKB2 gene
Symptoms // Phenotype | % Cases |
---|---|
Bronchiectasis | Very Common - Between 80% and 100% cases |
Decreased antibody level in blood | Very Common - Between 80% and 100% cases |
Autoimmune thrombocytopenia | Very Common - Between 80% and 100% cases |
Sinusitis | Common - Between 50% and 80% cases |
Recurrent otitis media | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NFKB2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent bronchitis
- Alopecia totalis
- Recurrent pneumonia
- Vitiligo
- Nail dystrophy
- Alopecia
- Purpura
- Global developmental delay
And 79 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NFKB2 gene
Here you will find a list of rare diseases related to the NFKB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMMON VARIABLE IMMUNODEFICIENCY
Alternate names
COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency, cvid, antibody deficiency due to icos defect, idiopathic immunoglobulin deficiency, primary hypogammaglobulinemia
Description
Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.
Most common symptoms of COMMON VARIABLE IMMUNODEFICIENCY
- Hepatomegaly
- Diarrhea
- Splenomegaly
- Immunodeficiency
- Recurrent infections
IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10
Alternate names
IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10 Is also known as deficit in anterior pituitary function and variable immunodeficiency, david, immunodeficiency, common variable, with central adrenal insufficiency
Description
Common variable immunodeficiency-10 is an autosomal dominant primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency (summary by Chen et al., 2013).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).
Most common symptoms of IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10
- Global developmental delay
- Spasticity
- Gait disturbance
- Dysphagia
- Immunodeficiency
SOURCES: OMIM
DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME
Alternate names
DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME Is also known as david syndrome
Description
Deficiency in anterior pituitary function-variable immunodeficiency syndrome is a rare, genetic endocrine disease characterized by the association of common variable immunodeficiency, manifesting with hypogammaglobulinemia and recurrent or severe childhood-onset sinopulmonary infections, followed, possibly many years later, by symptomatic adrenocorticotropic hormone (ACTH) deficiency resulting from anterior pituitary hormone deficiency.
Most common symptoms of DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME
- Global developmental delay
- Failure to thrive
- Fatigue
- Alopecia
- Nail dystrophy
SOURCES: ORPHANET
Search interest in NFKB2
Potential gene panels for NFKB2 gene
NFKB2 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NFKB2 gene.
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panelHumoral dysfunction Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panelHumoral dysfunction Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panelHumoral dysfunction Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panelImmunodeficiency, common variable (sequence analysis of NFKB2 gene) Panel
By CGC Genetics
This panel specifically test the NFKB2 gene.
More info about this panelImmunodeficiency, common variable (sequence analysis of NFKB2 gene) Panel
By CGC Genetics
This panel specifically test the NFKB2 gene.
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelAntibody deficiencies Panel Panel
By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1
More info about this panelInvitae Common Variable Immunodeficiency Panel Panel
By Invitae Invitae Common Variable Immunodeficiency Panel that also includes the following genes: STAT3 CD27 TNFSF12 LRBA TNFRSF13C TNFRSF13B CR2 CTLA4 ICOS IL21
More info about this panelInvitae Monogenic Autoimmunity Panel Panel
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panelInvitae Primary Immunodeficiency Panel Panel
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panelNFKB2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NFKB2 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelCOMMON VARIABLE IMMUNODEFICIENCY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL that also includes the following genes: IKZF1 CD19 CD81 LRBA TNFRSF13C TNFRSF13B IRF2BP2 CR2 ICOS IL21
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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