IMD11B
MCID: IMM145
MIFTS: 29

Immunodeficiency 11b with Atopic Dermatitis (IMD11B)

Categories: Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 11b with Atopic Dermatitis

MalaCards integrated aliases for Immunodeficiency 11b with Atopic Dermatitis:

Name: Immunodeficiency 11b with Atopic Dermatitis 57 12 72 29 6
Atopic Dermatitis, Elevated Ige, and Eosinophilia 57 12 72
Imd11b 57 12 72
Immunodeficiency 11b 12 15

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
atopic dermatitis tends to improve with age


HPO:

31
immunodeficiency 11b with atopic dermatitis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111958
OMIM® 57 617638
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
UMLS 70 C4539957

Summaries for Immunodeficiency 11b with Atopic Dermatitis

UniProtKB/Swiss-Prot : 72 Immunodeficiency 11B with atopic dermatitis: 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.

MalaCards based summary : Immunodeficiency 11b with Atopic Dermatitis, also known as atopic dermatitis, elevated ige, and eosinophilia, is related to coronin-1a deficiency and adenosine deaminase deficiency. An important gene associated with Immunodeficiency 11b with Atopic Dermatitis is CARD11 (Caspase Recruitment Domain Family Member 11), and among its related pathways/superpathways are B Cell Receptor Signaling Pathway (sino) and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include b cells, and related phenotypes are asthma and eosinophilia

Disease Ontology : 12 A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has material basis in heterozygous mutation in CARD11 on chromosome 7p22.2.

OMIM® : 57 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). (617638) (Updated 05-Apr-2021)

Related Diseases for Immunodeficiency 11b with Atopic Dermatitis

Diseases related to Immunodeficiency 11b with Atopic Dermatitis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 coronin-1a deficiency 9.6 CD3D AK2
2 adenosine deaminase deficiency 9.5 CD3D AK2
3 omenn syndrome 8.8 RMRP PGM3 CD3D CARD11 AK2
4 severe combined immunodeficiency 8.8 RMRP PGM3 CD3D CARD11 AK2
5 combined immunodeficiency 8.8 RMRP PGM3 CD3D CARD11 AK2

Graphical network of the top 20 diseases related to Immunodeficiency 11b with Atopic Dermatitis:



Diseases related to Immunodeficiency 11b with Atopic Dermatitis

Symptoms & Phenotypes for Immunodeficiency 11b with Atopic Dermatitis

Human phenotypes related to Immunodeficiency 11b with Atopic Dermatitis:

31
# Description HPO Frequency HPO Source Accession
1 asthma 31 HP:0002099
2 eosinophilia 31 HP:0001880
3 pneumonia 31 HP:0002090
4 atopic dermatitis 31 HP:0001047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory:
asthma
pneumonia

Skin Nails Hair Skin:
abscesses
atopic dermatitis, severe
molluscum infection

Immunology:
eosinophilia
increased serum ige
food allergies
immune dysfunction
defects in t-cell activation and proliferation
more

Clinical features from OMIM®:

617638 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 11b with Atopic Dermatitis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-208 8.62 AK2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 8.62 PGM3

Drugs & Therapeutics for Immunodeficiency 11b with Atopic Dermatitis

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 11b with Atopic Dermatitis

Genetic Tests for Immunodeficiency 11b with Atopic Dermatitis

Genetic tests related to Immunodeficiency 11b with Atopic Dermatitis:

# Genetic test Affiliating Genes
1 Immunodeficiency 11b with Atopic Dermatitis 29 CARD11

Anatomical Context for Immunodeficiency 11b with Atopic Dermatitis

MalaCards organs/tissues related to Immunodeficiency 11b with Atopic Dermatitis:

40
B Cells

Publications for Immunodeficiency 11b with Atopic Dermatitis

Articles related to Immunodeficiency 11b with Atopic Dermatitis:

# Title Authors PMID Year
1
Germline hypomorphic CARD11 mutations in severe atopic disease. 6 57
28628108 2017

Variations for Immunodeficiency 11b with Atopic Dermatitis

ClinVar genetic disease variations for Immunodeficiency 11b with Atopic Dermatitis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CARD11 CARD11, 42-BP DUP Duplication Pathogenic 433536 GRCh37:
GRCh38:
2 CARD11 CARD11, LEU194PRO Variation Pathogenic 433533 GRCh37:
GRCh38:
3 CARD11 CARD11, GLU57ASP Variation Pathogenic 433534 GRCh37:
GRCh38:
4 CARD11 NM_032415.6(CARD11):c.2923C>T (p.Arg975Trp) SNV Pathogenic 421704 rs1064795307 GRCh37: 7:2953017-2953017
GRCh38: 7:2913383-2913383
5 CARD11 NM_001324281.2(CARD11):c.1136G>A (p.Arg379Gln) SNV Uncertain significance 562203 rs751008087 GRCh37: 7:2977548-2977548
GRCh38: 7:2937914-2937914
6 CARD11 NM_032415.6(CARD11):c.2735G>A (p.Arg912Gln) SNV Uncertain significance 571975 rs368119340 GRCh37: 7:2954975-2954975
GRCh38: 7:2915341-2915341
7 CARD11 NM_032415.6(CARD11):c.1143+10C>G SNV Uncertain significance 626072 rs1300600302 GRCh37: 7:2977531-2977531
GRCh38: 7:2937897-2937897
8 CARD11 NM_032415.6(CARD11):c.781C>T (p.Pro261Ser) SNV Uncertain significance 626073 rs1562492241 GRCh37: 7:2979466-2979466
GRCh38: 7:2939832-2939832

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 11b with Atopic Dermatitis:

72
# Symbol AA change Variation ID SNP ID
1 CARD11 p.Glu57Asp VAR_079284
2 CARD11 p.Leu194Pro VAR_079285
3 CARD11 p.Arg975Trp VAR_079286 rs106479530

Expression for Immunodeficiency 11b with Atopic Dermatitis

Search GEO for disease gene expression data for Immunodeficiency 11b with Atopic Dermatitis.

Pathways for Immunodeficiency 11b with Atopic Dermatitis

Pathways related to Immunodeficiency 11b with Atopic Dermatitis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 CD3D CARD11
2
Show member pathways
11.54 CD3D CARD11
3
Show member pathways
11.3 CD3D CARD11
4
Show member pathways
10.66 CD3D CARD11

GO Terms for Immunodeficiency 11b with Atopic Dermatitis

Biological processes related to Immunodeficiency 11b with Atopic Dermatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 8.96 CD3D CARD11
2 T cell receptor signaling pathway GO:0050852 8.62 CD3D CARD11

Sources for Immunodeficiency 11b with Atopic Dermatitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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