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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET MESH


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

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

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

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

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

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

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

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

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

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

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

RFX5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RFX5 gene.

More info about this panel

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

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

Bare lymphocyte syndrome type 2 Panel

Spain.

By Bioarray

This panel specifically test the RFX5 gene.

More info about this panel

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRSS2 MYLK PITX1 ANLN ETV6 ZNF335 ELANE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more