RFX5 gene related symptoms and diseases
All the information presented here about the RFX5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RFX5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Failure to thrive | Very Common - Between 80% and 100% cases |
| Agammaglobulinemia | Very Common - Between 80% and 100% cases |
| Chronic lymphocytic meningitis | Very Common - Between 80% and 100% cases |
| Viral hepatitis | Very Common - Between 80% and 100% cases |
| Cutaneous anergy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RFX5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Panhypogammaglobulinemia
- Protracted diarrhea
- Recurrent fungal infections
- Cholangitis
- Villous atrophy
- Recurrent viral infections
- Chronic mucocutaneous candidiasis
- Recurrent lower respiratory tract infections
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RFX5 gene
Here you will find a list of rare diseases related to the RFX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2
Alternate names
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls, major histocompatibility complex class ii expression deficiency, bare lymphocyte syndrome type 2, bls, type ii, hla class 2-negative severe combined immunodeficiency, bare lymphocyte syndrome, scid, hla class ii-negative, hla class 2-negative scid, mhc class
Description
Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.
Most common symptoms of IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2
- Failure to thrive
- Immunodeficiency
- Recurrent infections
- Malabsorption
- Neutropenia
More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2
Search interest in RFX5
Potential gene panels for RFX5 gene
RFX5 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RFX5 gene.
More info about this panel United States.
RFX5 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RFX5 gene.
More info about this panel United States.
RFX5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RFX5 gene.
More info about this panel Spain.
Hereditary MHC class II deficiency, complementation group C/E (sequence analysis of RFX5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RFX5 gene.
More info about this panel Portugal.
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 Monogenic Autoimmunity Panel Panel
United States.
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 panel United States.
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.
Severe combined immunodeficiency, HLA class II-negative: RFX5 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RFX5 gene.
More info about this panel Spain.
Severe combined immunodeficiency, HLA class II-negative Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Severe combined immunodeficiency, HLA class II-negative that also includes the following genes: CIITA RFX5 RFXANK RFXAP
More info about this panel Spain.
RFX5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RFX5 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.
Bare lymphocyte syndrome type 2 Panel
Spain.
By Bioarray
This panel specifically test the RFX5 gene.
More info about this panel Spain.
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 (BARE LYMPHOCYTE SYNDROME TYPE 2) Panel
Spain.
By Laboratorio de Genetica Clinica SL IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 (BARE LYMPHOCYTE SYNDROME TYPE 2) that also includes the following genes: CIITA RFX5 RFXANK RFXAP
More info about this panel Spain.
IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA (BARE LYMPHOCYTE SYNDROME) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA (BARE LYMPHOCYTE SYNDROME) NGS PANEL that also includes the following genes: TAPBP TAP1 TAP2 CIITA RFX5 RFXANK RFXAP
More info about this panel Spain.
Immune Deficiency by Defective Expression of HLA Class 2 , Sequencing RFX5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RFX5 gene.
More info about this panel Spain.
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