IKBKB gene related symptoms and diseases
All the information presented here about the IKBKB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IKBKB gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Diarrhea | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Very Common - Between 80% and 100% cases |
| Pneumonia | Very Common - Between 80% and 100% cases |
| Respiratory tract infection | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with IKBKB gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sepsis
- Decreased antibody level in blood
- Chronic diarrhea
- Cardiac arrest
- Meningitis
- Osteomyelitis
- Combined immunodeficiency
- Severe combined immunodeficiency
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IKBKB gene
Here you will find a list of rare diseases related to the IKBKB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY
Alternate names
SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency
Description
Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.
Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY
- Failure to thrive
- Diarrhea
- Immunodeficiency
- Pneumonia
- Respiratory tract infection
More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY
Search interest in IKBKB
Potential gene panels for IKBKB gene
CentoICU platinum plus Panel
Germany.
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 panel Germany.
New Born testing (CentoICU) Panel
Germany.
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 panel Germany.
Immunodeficiency type 15 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IKBKB gene.
More info about this panel Germany.
Combined immunodeficiencies Panel Panel
Germany.
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panel Germany.
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3D CD3E CD3G
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
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 panel United States.
Invitae Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Combined Immunodeficiency (CID) Panel that also includes the following genes: STK4 TAPBP TNFRSF4 CD27 CD40LG ZAP70 CARD11 CD3G CD8A LRBA
More info about this panel United States.
IKBKB Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IKBKB gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
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 panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Focus::MCL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panel United States.
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL that also includes the following genes: STAT1 STIM1 FOXN1 ZAP70 CARD11 CD3D CD3E CD247 DCLRE1C ADA
More info about this panel Spain.
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
Spain.
By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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