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.

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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


More info about COMMON VARIABLE IMMUNODEFICIENCY

SOURCES: ORPHANET OMIM

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


More info about IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10

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


More info about DEFICIENCY IN ANTERIOR PITUITARY FUNCTION-VARIABLE IMMUNODEFICIENCY SYNDROME

SOURCES: ORPHANET


Potential gene panels for NFKB2 gene

NFKB2 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 NFKB2 gene.

More info about this panel

Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel

United States.

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 panel

Humoral dysfunction Del/Dup Panel Panel

United States.

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 panel

Humoral dysfunction Seq Analysis Panel

United States.

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 panel

Humoral dysfunction Seq + Del/Dup Panel Panel

United States.

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 panel

Immunodeficiency, common variable (sequence analysis of NFKB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NFKB2 gene.

More info about this panel

Immunodeficiency, common variable (sequence analysis of NFKB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NFKB2 gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

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 panel

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

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

Antibody deficiencies Panel Panel

Germany.

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 panel

Invitae Common Variable Immunodeficiency Panel Panel

United States.

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 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 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

NFKB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NFKB2 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

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel

COMMON VARIABLE IMMUNODEFICIENCY NGS PANEL Panel

Spain.

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 panel

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


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