MCID: IMM145
MIFTS: 16

Immunodeficiency 11b with Atopic Dermatitis

Categories: Genetic diseases, Skin diseases, Immune 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 75 6
Atopic Dermatitis, Elevated Ige, and Eosinophilia 57 75
Imd11b 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 617638
MeSH 44 D007153

Summaries for Immunodeficiency 11b with Atopic Dermatitis

UniProtKB/Swiss-Prot : 75 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, is also known as atopic dermatitis, elevated ige, and eosinophilia. An important gene associated with Immunodeficiency 11b with Atopic Dermatitis is CARD11 (Caspase Recruitment Domain Family Member 11). Affiliated tissues include t cells and b cells.

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)

Related Diseases for Immunodeficiency 11b with Atopic Dermatitis

Symptoms & Phenotypes for Immunodeficiency 11b with Atopic Dermatitis

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
pneumonia
asthma

Immunology:
immune dysfunction
food allergies
defects in t-cell activation and proliferation
increased serum ige
eosinophilia
more
Skin Nails Hair Skin:
atopic dermatitis, severe
molluscum infection
abscesses


Clinical features from OMIM:

617638

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

Anatomical Context for Immunodeficiency 11b with Atopic Dermatitis

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

41
T Cells, B Cells

Publications for Immunodeficiency 11b with Atopic Dermatitis

Variations for Immunodeficiency 11b with Atopic Dermatitis

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CARD11 NM_032415.5(CARD11): c.2923C> T (p.Arg975Trp) single nucleotide variant Likely pathogenic rs1064795307 GRCh38 Chromosome 7, 2913383: 2913383
2 CARD11 NM_032415.5(CARD11): c.2923C> T (p.Arg975Trp) single nucleotide variant Likely pathogenic rs1064795307 GRCh37 Chromosome 7, 2953017: 2953017
3 CARD11 CARD11, LEU194PRO undetermined variant Pathogenic
4 CARD11 CARD11, GLU57ASP undetermined variant Pathogenic
5 CARD11 CARD11, 42-BP DUP duplication Pathogenic

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

GO Terms for Immunodeficiency 11b with Atopic Dermatitis

Sources for Immunodeficiency 11b with Atopic Dermatitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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