IMD11A
MCID: IMM062
MIFTS: 26

Immunodeficiency 11 (IMD11A)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 11

MalaCards integrated aliases for Immunodeficiency 11:

Name: Immunodeficiency 11 57 75 29 6 73
Card11 Immunodeficiency 57 75 40
Imd11a 57 75
Imd11 57 75
Severe Combined Immunodeficiency Due to Card11 Deficiency 59
Scid Due to Card11 Deficiency 59
Immunodeficiency 11; Imd11 57
Immunodeficiency 11 a 75
Immunodeficiency 11a 57

Characteristics:

Orphanet epidemiological data:

59
severe combined immunodeficiency due to card11 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two unrelated patients have been reported (last curated april 2013)


HPO:

32
immunodeficiency 11:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 615206
Orphanet 59 ORPHA357237
ICD10 via Orphanet 34 D81.2
MeSH 44 D007153
UMLS 73 C3554686

Summaries for Immunodeficiency 11

OMIM : 57 Immunodeficiency-11A is an autosomal recessive primary immunodeficiency characterized by normal numbers of T and B lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T cells and defects in T-cell function (summary by Greil et al., 2013 and Stepensky et al., 2013). (615206)

MalaCards based summary : Immunodeficiency 11, also known as card11 immunodeficiency, is related to immunodeficiency, common variable, 11 and b-cell expansion with nfkb and t-cell anergy. An important gene associated with Immunodeficiency 11 is CARD11 (Caspase Recruitment Domain Family Member 11), and among its related pathways/superpathways is Allograft rejection. Affiliated tissues include t cells and b cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

UniProtKB/Swiss-Prot : 75 Immunodeficiency 11 A: An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function.

Related Diseases for Immunodeficiency 11

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 11 11.2
2 b-cell expansion with nfkb and t-cell anergy 9.8 CARD11 LOC101927256

Symptoms & Phenotypes for Immunodeficiency 11

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pneumonia

Immunology:
hypogammaglobulinemia
normal numbers of t and b cells
increased transitional b cells
decreased differentiated b cells
decreased regulatory t cells
more
Respiratory:
respiratory infections, recurrent


Clinical features from OMIM:

615206

Human phenotypes related to Immunodeficiency 11:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 decreased antibody level in blood 32 HP:0004313
4 pneumonia 32 HP:0002090

Drugs & Therapeutics for Immunodeficiency 11

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 11

Genetic Tests for Immunodeficiency 11

Genetic tests related to Immunodeficiency 11:

# Genetic test Affiliating Genes
1 Immunodeficiency 11 29 CARD11

Anatomical Context for Immunodeficiency 11

MalaCards organs/tissues related to Immunodeficiency 11:

41
T Cells, B Cells

Publications for Immunodeficiency 11

Variations for Immunodeficiency 11

ClinVar genetic disease variations for Immunodeficiency 11:

6 (show top 50) (show all 137)
# Gene Variation Type Significance SNP ID Assembly Location
1 CARD11 NM_032415.5(CARD11): c.2833C> T (p.Gln945Ter) single nucleotide variant Pathogenic rs397514686 GRCh37 Chromosome 7, 2954877: 2954877
2 CARD11 NM_032415.5(CARD11): c.2833C> T (p.Gln945Ter) single nucleotide variant Pathogenic rs397514686 GRCh38 Chromosome 7, 2915243: 2915243
3 CARD11 NM_032415.5(CARD11): c.2704-890_2839+352del deletion Pathogenic GRCh38 Chromosome 7, 2914850: 2916262
4 CARD11 NM_032415.5(CARD11): c.1590A> C (p.Glu530Asp) single nucleotide variant Benign rs41515445 GRCh37 Chromosome 7, 2969689: 2969689
5 CARD11 NM_032415.5(CARD11): c.1590A> C (p.Glu530Asp) single nucleotide variant Benign rs41515445 GRCh38 Chromosome 7, 2930055: 2930055
6 CARD11 NM_032415.5(CARD11): c.1630A> C (p.Ile544Leu) single nucleotide variant Likely benign rs147687933 GRCh37 Chromosome 7, 2969649: 2969649
7 CARD11 NM_032415.5(CARD11): c.1630A> C (p.Ile544Leu) single nucleotide variant Likely benign rs147687933 GRCh38 Chromosome 7, 2930015: 2930015
8 CARD11 NM_032415.5(CARD11): c.1581C> A (p.His527Gln) single nucleotide variant Likely benign rs74876622 GRCh37 Chromosome 7, 2969698: 2969698
9 CARD11 NM_032415.5(CARD11): c.1581C> A (p.His527Gln) single nucleotide variant Likely benign rs74876622 GRCh38 Chromosome 7, 2930064: 2930064
10 CARD11 NM_032415.5(CARD11): c.1610G> C (p.Ser537Thr) single nucleotide variant Likely benign rs148753096 GRCh37 Chromosome 7, 2969669: 2969669
11 CARD11 NM_032415.5(CARD11): c.1610G> C (p.Ser537Thr) single nucleotide variant Likely benign rs148753096 GRCh38 Chromosome 7, 2930035: 2930035
12 CARD11 NM_032415.5(CARD11): c.2060C> T (p.Ala687Val) single nucleotide variant Likely benign rs41493047 GRCh37 Chromosome 7, 2962848: 2962848
13 CARD11 NM_032415.5(CARD11): c.2060C> T (p.Ala687Val) single nucleotide variant Likely benign rs41493047 GRCh38 Chromosome 7, 2923214: 2923214
14 CARD11 NM_032415.5(CARD11): c.2119C> T (p.Arg707Cys) single nucleotide variant Uncertain significance rs143049136 GRCh37 Chromosome 7, 2962789: 2962789
15 CARD11 NM_032415.5(CARD11): c.2119C> T (p.Arg707Cys) single nucleotide variant Uncertain significance rs143049136 GRCh38 Chromosome 7, 2923155: 2923155
16 CARD11 NM_032415.5(CARD11): c.1975G> A (p.Val659Met) single nucleotide variant Uncertain significance rs78443994 GRCh37 Chromosome 7, 2962933: 2962933
17 CARD11 NM_032415.5(CARD11): c.1975G> A (p.Val659Met) single nucleotide variant Uncertain significance rs78443994 GRCh38 Chromosome 7, 2923299: 2923299
18 CARD11 NM_032415.5(CARD11): c.2641A> G (p.Ser881Gly) single nucleotide variant Uncertain significance rs140097633 GRCh37 Chromosome 7, 2956986: 2956986
19 CARD11 NM_032415.5(CARD11): c.2641A> G (p.Ser881Gly) single nucleotide variant Uncertain significance rs140097633 GRCh38 Chromosome 7, 2917352: 2917352
20 CARD11 NM_032415.5(CARD11): c.3025G> A (p.Val1009Ile) single nucleotide variant Likely benign rs147381531 GRCh37 Chromosome 7, 2951925: 2951925
21 CARD11 NM_032415.5(CARD11): c.3025G> A (p.Val1009Ile) single nucleotide variant Likely benign rs147381531 GRCh38 Chromosome 7, 2912291: 2912291
22 CARD11 NM_032415.5(CARD11): c.3454G> A (p.Asp1152Asn) single nucleotide variant Likely benign rs147422861 GRCh37 Chromosome 7, 2946283: 2946283
23 CARD11 NM_032415.5(CARD11): c.3454G> A (p.Asp1152Asn) single nucleotide variant Likely benign rs147422861 GRCh38 Chromosome 7, 2906649: 2906649
24 CARD11 NM_032415.5(CARD11): c.572A> G (p.Asn191Ser) single nucleotide variant Uncertain significance rs147264763 GRCh37 Chromosome 7, 2983958: 2983958
25 CARD11 NM_032415.5(CARD11): c.572A> G (p.Asn191Ser) single nucleotide variant Uncertain significance rs147264763 GRCh38 Chromosome 7, 2944324: 2944324
26 CARD11 NM_032415.5(CARD11): c.1212G> A (p.Arg404=) single nucleotide variant Benign/Likely benign rs142108678 GRCh37 Chromosome 7, 2976800: 2976800
27 CARD11 NM_032415.5(CARD11): c.1212G> A (p.Arg404=) single nucleotide variant Benign/Likely benign rs142108678 GRCh38 Chromosome 7, 2937166: 2937166
28 CARD11 NM_032415.5(CARD11): c.1440G> A (p.Ser480=) single nucleotide variant Benign rs41396348 GRCh37 Chromosome 7, 2974165: 2974165
29 CARD11 NM_032415.5(CARD11): c.1440G> A (p.Ser480=) single nucleotide variant Benign rs41396348 GRCh38 Chromosome 7, 2934531: 2934531
30 CARD11 NM_032415.5(CARD11): c.1008G> A (p.Leu336=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 2978322: 2978322
31 CARD11 NM_032415.5(CARD11): c.1008G> A (p.Leu336=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 2938688: 2938688
32 CARD11 NM_032415.5(CARD11): c.3145-3C> T single nucleotide variant Uncertain significance rs200456391 GRCh38 Chromosome 7, 2910168: 2910168
33 CARD11 NM_032415.5(CARD11): c.3145-3C> T single nucleotide variant Uncertain significance rs200456391 GRCh37 Chromosome 7, 2949802: 2949802
34 CARD11 NM_032415.5(CARD11): c.3019+6C> T single nucleotide variant Benign rs199705831 GRCh37 Chromosome 7, 2952915: 2952915
35 CARD11 NM_032415.5(CARD11): c.3019+6C> T single nucleotide variant Benign rs199705831 GRCh38 Chromosome 7, 2913281: 2913281
36 CARD11 NM_032415.5(CARD11): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 2984100: 2984100
37 CARD11 NM_032415.5(CARD11): c.430G> A (p.Ala144Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 2944466: 2944466
38 CARD11 NM_032415.5(CARD11): c.225G> C (p.Arg75=) single nucleotide variant Benign rs10229368 GRCh37 Chromosome 7, 2985586: 2985586
39 CARD11 NM_032415.5(CARD11): c.225G> C (p.Arg75=) single nucleotide variant Benign rs10229368 GRCh38 Chromosome 7, 2945952: 2945952
40 CARD11 NM_032415.5(CARD11): c.1695C> T (p.Ala565=) single nucleotide variant Benign rs41454944 GRCh37 Chromosome 7, 2968291: 2968291
41 CARD11 NM_032415.5(CARD11): c.1695C> T (p.Ala565=) single nucleotide variant Benign rs41454944 GRCh38 Chromosome 7, 2928657: 2928657
42 CARD11 NM_032415.5(CARD11): c.1260G> A (p.Glu420=) single nucleotide variant Benign rs112171353 GRCh37 Chromosome 7, 2976752: 2976752
43 CARD11 NM_032415.5(CARD11): c.1260G> A (p.Glu420=) single nucleotide variant Benign rs112171353 GRCh38 Chromosome 7, 2937118: 2937118
44 CARD11 NM_032415.5(CARD11): c.945C> G (p.Asp315Glu) single nucleotide variant Uncertain significance rs149430714 GRCh37 Chromosome 7, 2978385: 2978385
45 CARD11 NM_032415.5(CARD11): c.945C> G (p.Asp315Glu) single nucleotide variant Uncertain significance rs149430714 GRCh38 Chromosome 7, 2938751: 2938751
46 CARD11 NM_032415.5(CARD11): c.388T> A (p.Phe130Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 2984142: 2984142
47 CARD11 NM_032415.5(CARD11): c.388T> A (p.Phe130Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 2944508: 2944508
48 CARD11 NM_032415.5(CARD11): c.88C> T (p.Arg30Trp) single nucleotide variant Uncertain significance rs145474800 GRCh37 Chromosome 7, 2987341: 2987341
49 CARD11 NM_032415.5(CARD11): c.88C> T (p.Arg30Trp) single nucleotide variant Uncertain significance rs145474800 GRCh38 Chromosome 7, 2947707: 2947707
50 CARD11 NM_032415.5(CARD11): c.3399C> T (p.Arg1133=) single nucleotide variant Benign rs117428786 GRCh37 Chromosome 7, 2946338: 2946338

Expression for Immunodeficiency 11

Search GEO for disease gene expression data for Immunodeficiency 11.

Pathways for Immunodeficiency 11

Pathways related to Immunodeficiency 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 CARD11 IL21

GO Terms for Immunodeficiency 11

Biological processes related to Immunodeficiency 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of T cell proliferation GO:0042102 9.16 CARD11 IL21
2 positive regulation of B cell proliferation GO:0030890 8.96 CARD11 IL21
3 positive regulation of cytokine production GO:0001819 8.62 CARD11 IL21

Sources for Immunodeficiency 11

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
38 LifeMap
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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