CARD11 gene related symptoms and diseases

All the information presented here about the CARD11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CARD11 gene

Symptoms // Phenotype % Cases
Recurrent infections Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Lymphoma Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CARD11 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hepatomegaly
  • Lymphadenopathy
  • T-cell lymphoma
  • Splenomegaly
  • Pneumonia
  • Rarely - Less than 30% cases

  • Chronic lymphatic leukemia
  • IgM deficiency
  • Neoplasm

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CARD11 gene

Here you will find a list of rare diseases related to the CARD11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SÉZARY SYNDROME


Alternate names

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Description

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

Most common symptoms of SÉZARY SYNDROME

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


More info about SÉZARY SYNDROME

SOURCES: MESH ORPHANET

BENTA DISEASE


Alternate names

BENTA DISEASE Is also known as b-cell expansion with nf-kb and t-cell anergy disease


More info about BENTA DISEASE

SOURCES: ORPHANET

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS


Alternate names

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS Is also known as persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes, ppbl

Description

Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.

Most common symptoms of PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


More info about PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

SOURCES: ORPHANET OMIM

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY


Alternate names

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY Is also known as scid due to card11 deficiency, card11 immunodeficiency, imd11, immunodeficiency 11

Description

Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.

Most common symptoms of SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection


More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CARD11 DEFICIENCY

SOURCES: ORPHANET OMIM

IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B


Alternate names

IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B Is also known as atopic dermatitis, elevated ige, and eosinophilia

Description

IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia (summary by Ma et al., 2017).

Most common symptoms of IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B

  • Recurrent infections
  • Pneumonia
  • Asthma
  • Lymphoma
  • Decreased antibody level in blood


More info about IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS; IMD11B

SOURCES: OMIM


Potential gene panels for CARD11 gene

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

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

B-cell expansion with NFKB and T-cell anergy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CARD11 gene.

More info about this panel

Immunodeficiency type 11 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CARD11 gene.

More info about this panel

Immune dysregulation Panel Panel

Germany.

By CeGaT GmbH Immune dysregulation Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG TREX1 ITCH CASP10 CASP8 CARD11

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 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

CARD11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CARD11 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

Focus::CLL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::CLL™ NGS Panel that also includes the following genes: SF3B1 BRAF BTK MED12 TP53 TRAF2 XPO1 ZMYM3 IKZF3 CARD11

More info about this panel

Focus::DLBCL&FL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Focus::Lymphoma™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

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

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

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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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