Immunodeficiency 11b With Atopic Dermatitis; Imd11b

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 11b With Atopic Dermatitis; Imd11b

  • Recurrent infections
  • Pneumonia
  • Asthma
  • Lymphoma
  • Decreased antibody level in blood
  • Inflammatory abnormality of the skin
  • Lymphopenia
  • Eosinophilia
  • Colitis
  • Atopic dermatitis

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Immunodeficiency 11b With Atopic Dermatitis; Imd11b Is also known as atopic dermatitis, elevated ige, and eosinophilia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Immunodeficiency 11b With Atopic Dermatitis; Imd11b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago (United States).

BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
B-cell expansion with NFKB and T-cell anergy.

By Centogene AG - the Rare Disease Company (Germany).

CARD11
Specificity
100 %
Genes
100 %
Immunodeficiency type 11.

By Centogene AG - the Rare Disease Company (Germany).

CARD11
Specificity
100 %
Genes
100 %
Immune dysregulation Panel.

By CeGaT GmbH (Germany).

SH2D1A, STX11, STXBP2, FAS, FASLG, TREX1, ITCH, CASP10, CASP8, CARD11, LYST, UNC13D, AIRE, FCGR2B, AOAH, AP3B1, XIAP, IL2RA, FOXP3, PRF1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Combined immunodeficiencies Panel.

By CeGaT GmbH (Germany).

RMRP, SEMA3E, STAT5B, STIM1, STK4, TAPBP, TBX1, THBD, TNFRSF4, CD40, CD27, CD40LG, TRAC, ACP5, FOXN1, ZAP70, CARD11, CD3D, CD3E, CD3G , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.

By Invitae (United States).

STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, CORO1A, CTPS1, NHEJ1, MAGT1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %

We have 15 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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