IMD11A
MCID: IMM062
MIFTS: 43

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 72 29 6 70
Card11 Immunodeficiency 57 72 39
Immunodeficiency 11a 57 12 15
Imd11a 57 12 72
Severe Combined Immunodeficiency Due to Card11 Deficiency 12 58
Scid Due to Card11 Deficiency 12 58
Imd11 57 72
Immunodeficiency 11; Imd11 57
Immunodeficiency 11 a 72
Card11 Deficiency 12

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to card11 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

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


HPO:

31
immunodeficiency 11:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111957
OMIM® 57 615206
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA357237
UMLS 70 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) (Updated 05-Apr-2021)

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 are TCR Signaling (Qiagen) and NF-kappaB Signaling. Affiliated tissues include b cells and t cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

Disease Ontology : 12 A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has material basis in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2.

UniProtKB/Swiss-Prot : 72 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:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency, common variable, 11 32.1 IL21-AS1 IL21
2 b-cell expansion with nfkb and t-cell anergy 10.2 CARD11-AS1 CARD11
3 mastoiditis 10.2 MALT1 CARD11
4 dacryoadenitis 10.2 IL21 CCR6
5 t-cell adult acute lymphocytic leukemia 10.2 CCR6 CARD11
6 spleen cancer 10.2 MALT1 CARD11
7 inflammatory bowel disease 25, autosomal recessive 10.2 IL21-AS1 IL21
8 central nervous system hematologic cancer 10.1 CCR6 CARD11
9 primary cutaneous marginal zone b-cell lymphoma 10.1 MALT1 BCL10
10 pityriasis rubra pilaris 10.1 CARD11 CARD10
11 orbit lymphoma 10.1 MALT1 BCL10
12 phaeohyphomycosis 10.1 MALT1 BCL10
13 alpha chain disease 10.1 MALT1 BCL10
14 peanut allergy 10.1 MALT1 CCR6
15 gastric lymphoma 10.0 MALT1 BCL10
16 orofaciodigital syndrome viii 10.0 MALT1 BCL10
17 cheilitis 10.0 MALT1 CCR6
18 immunodeficiency 16 10.0 CCR6 CARMIL2
19 nail disease 10.0 CCR6 BCL10
20 sezary's disease 10.0 CCR6 CARD11 BCL10
21 immunodeficiency 14 10.0 CARMIL2 CARD11
22 combined t and b cell immunodeficiency 9.9 MALT1 CARMIL2
23 omenn syndrome 9.9
24 lymphopenia 9.9
25 chronic mucocutaneous candidiasis 9.9 MALT1 CCR6 BCL10
26 diffuse large b-cell lymphoma 9.8 MALT1 CARD11 BCL10
27 common variable immunodeficiency 9.8 IL21-AS1 IL21 CARD11
28 central nervous system lymphoma 9.8 MALT1 CCR6
29 lymphoma 9.8 MALT1 CCR6 CARD11 BCL10
30 marginal zone b-cell lymphoma 9.8 MALT1 CCR6 CARD11 BCL10
31 severe combined immunodeficiency 9.7 IL21 CARMIL2 CARD11
32 dermatitis 9.7 CCR6 CARMIL2 CARD11
33 lymphoma, mucosa-associated lymphoid type 9.5 MALT1 CCR6 CARD11 CARD10 BCL10
34 combined immunodeficiency 9.4 MALT1 CCR6 CARMIL2 CARD11 BCL10

Graphical network of the top 20 diseases related to Immunodeficiency 11:



Diseases related to Immunodeficiency 11

Symptoms & Phenotypes for Immunodeficiency 11

Human phenotypes related to Immunodeficiency 11:

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 immunodeficiency 31 HP:0002721
3 pneumonia 31 HP:0002090
4 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
B Cells, T Cells

Publications for Immunodeficiency 11

Articles related to Immunodeficiency 11:

(show all 11)
# Title Authors PMID Year
1
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. 57 6
23561803 2013
2
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. 6 57
23374270 2013
3
Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease. 6
29472930 2018
4
Intrinsic Plasma Cell Differentiation Defects in B Cell Expansion with NF-κB and T Cell Anergy Patient B Cells. 6
28824638 2017
5
Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up. 6
26861442 2016
6
Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis. 6
25352053 2015
7
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. 6
23129749 2012
8
Human lymphoma mutations reveal CARD11 as the switch between self-antigen-induced B cell death or proliferation and autoantibody production. 6
23027925 2012
9
The MAGUK family protein CARD11 is essential for lymphocyte activation. 57
12818158 2003
10
Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). 61
15994061 2005
11
Pulmonary and sinus diseases in primary humoral immunodeficiencies with chronic productive cough. 61
14670780 2003

Variations for Immunodeficiency 11

ClinVar genetic disease variations for Immunodeficiency 11:

6 (show top 50) (show all 230)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CARD11 NM_032415.5(CARD11):c.2704-890_2839+352del Deletion Pathogenic 48650 GRCh37:
GRCh38: 7:2914850-2916262
2 CARD11 NC_000007.14:g.(?_2944192)_(2947807_?)del Deletion Pathogenic 830915 GRCh37: 7:2983826-2987441
GRCh38:
3 CARD11 NM_032415.6(CARD11):c.2833C>T (p.Gln945Ter) SNV Pathogenic 48649 rs397514686 GRCh37: 7:2954877-2954877
GRCh38: 7:2915243-2915243
4 CARD11 NM_032415.6(CARD11):c.2509C>T (p.Arg837Ter) SNV Pathogenic 540976 rs1554271741 GRCh37: 7:2959007-2959007
GRCh38: 7:2919373-2919373
5 CARD11 NM_032415.6(CARD11):c.367G>A (p.Gly123Ser) SNV Pathogenic 48648 rs387907352 GRCh37: 7:2984163-2984163
GRCh38: 7:2944529-2944529
6 CARD11 NM_032415.6(CARD11):c.874C>T (p.Arg292Cys) SNV Likely pathogenic 802288 rs771790639 GRCh37: 7:2978456-2978456
GRCh38: 7:2938822-2938822
7 CARD11 NM_032415.6(CARD11):c.2921G>A (p.Arg974His) SNV Likely pathogenic 636644 rs750407488 GRCh37: 7:2953019-2953019
GRCh38: 7:2913385-2913385
8 CARD11 NM_032415.6(CARD11):c.3145-3C>T SNV Likely pathogenic 473934 rs200456391 GRCh37: 7:2949802-2949802
GRCh38: 7:2910168-2910168
9 CARD11 NM_032415.6(CARD11):c.1658C>T (p.Pro553Leu) SNV Uncertain significance 838584 GRCh37: 7:2968328-2968328
GRCh38: 7:2928694-2928694
10 CARD11 NM_032415.6(CARD11):c.3175G>A (p.Gly1059Ser) SNV Uncertain significance 842744 GRCh37: 7:2949769-2949769
GRCh38: 7:2910135-2910135
11 CARD11 NM_032415.6(CARD11):c.1940+6C>G SNV Uncertain significance 847121 GRCh37: 7:2963861-2963861
GRCh38: 7:2924227-2924227
12 CARD11 NM_032415.6(CARD11):c.2102C>T (p.Ala701Val) SNV Uncertain significance 856431 GRCh37: 7:2962806-2962806
GRCh38: 7:2923172-2923172
13 CARD11 NM_032415.6(CARD11):c.7+3A>C SNV Uncertain significance 861208 GRCh37: 7:2998131-2998131
GRCh38: 7:2958497-2958497
14 CARD11 NM_032415.7(CARD11):c.1519C>T (p.Leu507=) SNV Uncertain significance 937486 GRCh37: 7:2972220-2972220
GRCh38: 7:2932586-2932586
15 CARD11 NM_032415.7(CARD11):c.181C>T (p.Leu61Phe) SNV Uncertain significance 937755 GRCh37: 7:2987248-2987248
GRCh38: 7:2947614-2947614
16 CARD11 NM_032415.6(CARD11):c.1558T>C (p.Ser520Pro) SNV Uncertain significance 426765 rs755350456 GRCh37: 7:2972181-2972181
GRCh38: 7:2932547-2932547
17 CARD11 NM_032415.7(CARD11):c.214C>G (p.Arg72Gly) SNV Uncertain significance 953716 GRCh37: 7:2987215-2987215
GRCh38: 7:2947581-2947581
18 CARD11 NM_032415.7(CARD11):c.1656G>C (p.Gln552His) SNV Uncertain significance 958339 GRCh37: 7:2968330-2968330
GRCh38: 7:2928696-2928696
19 CARD11 NM_032415.7(CARD11):c.3344G>A (p.Cys1115Tyr) SNV Uncertain significance 963991 GRCh37: 7:2946393-2946393
GRCh38: 7:2906759-2906759
20 CARD11 NM_032415.7(CARD11):c.2055C>T (p.Gly685=) SNV Uncertain significance 967157 GRCh37: 7:2962853-2962853
GRCh38: 7:2923219-2923219
21 CARD11 NM_032415.7(CARD11):c.2606G>A (p.Arg869Gln) SNV Uncertain significance 968672 GRCh37: 7:2958126-2958126
GRCh38: 7:2918492-2918492
22 CARD11 NM_032415.6(CARD11):c.3303C>T (p.Arg1101=) SNV Uncertain significance 540971 rs764369378 GRCh37: 7:2946434-2946434
GRCh38: 7:2906800-2906800
23 CARD11 NM_032415.6(CARD11):c.2875A>G (p.Ser959Gly) SNV Uncertain significance 657734 rs1429376486 GRCh37: 7:2953065-2953065
GRCh38: 7:2913431-2913431
24 CARD11 NM_032415.6(CARD11):c.3410A>T (p.Asp1137Val) SNV Uncertain significance 858217 GRCh37: 7:2946327-2946327
GRCh38: 7:2906693-2906693
25 CARD11 NM_032415.7(CARD11):c.583G>C (p.Val195Leu) SNV Uncertain significance 957780 GRCh37: 7:2983947-2983947
GRCh38: 7:2944313-2944313
26 CARD11 NM_032415.7(CARD11):c.95T>C (p.Met32Thr) SNV Uncertain significance 1037496 GRCh37: 7:2987334-2987334
GRCh38: 7:2947700-2947700
27 CARD11 NM_032415.7(CARD11):c.2711G>A (p.Ser904Asn) SNV Uncertain significance 1040363 GRCh37: 7:2954999-2954999
GRCh38: 7:2915365-2915365
28 CARD11 NM_032415.7(CARD11):c.2407G>A (p.Val803Ile) SNV Uncertain significance 1043599 GRCh37: 7:2959109-2959109
GRCh38: 7:2919475-2919475
29 CARD11 NM_032415.7(CARD11):c.1210A>G (p.Arg404Gly) SNV Uncertain significance 1043809 GRCh37: 7:2976802-2976802
GRCh38: 7:2937168-2937168
30 CARD11 NM_032415.7(CARD11):c.2899C>T (p.Arg967Cys) SNV Uncertain significance 973623 GRCh37: 7:2953041-2953041
GRCh38: 7:2913407-2913407
31 CARD11 NM_032415.7(CARD11):c.2159G>A (p.Arg720Gln) SNV Uncertain significance 1046028 GRCh37: 7:2962378-2962378
GRCh38: 7:2922744-2922744
32 CARD11-AS1 , CARD11 NM_032415.7(CARD11):c.305T>G (p.Leu102Arg) SNV Uncertain significance 1046717 GRCh37: 7:2985506-2985506
GRCh38: 7:2945872-2945872
33 CARD11 NM_032415.7(CARD11):c.1432T>C (p.Ser478Pro) SNV Uncertain significance 1047207 GRCh37: 7:2974173-2974173
GRCh38: 7:2934539-2934539
34 CARD11 NM_032415.7(CARD11):c.3382G>A (p.Val1128Ile) SNV Uncertain significance 935604 GRCh37: 7:2946355-2946355
GRCh38: 7:2906721-2906721
35 CARD11 NM_032415.7(CARD11):c.2377A>G (p.Met793Val) SNV Uncertain significance 939714 GRCh37: 7:2959139-2959139
GRCh38: 7:2919505-2919505
36 CARD11 NM_032415.7(CARD11):c.2450C>T (p.Ala817Val) SNV Uncertain significance 941088 GRCh37: 7:2959066-2959066
GRCh38: 7:2919432-2919432
37 CARD11 NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser) SNV Uncertain significance 948065 GRCh37: 7:2951820-2951820
GRCh38: 7:2912186-2912186
38 CARD11 NM_032415.7(CARD11):c.2924G>A (p.Arg975Gln) SNV Uncertain significance 948897 GRCh37: 7:2953016-2953016
GRCh38: 7:2913382-2913382
39 CARD11 NM_032415.7(CARD11):c.2198A>G (p.Lys733Arg) SNV Uncertain significance 957734 GRCh37: 7:2962339-2962339
GRCh38: 7:2922705-2922705
40 CARD11 NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln) SNV Uncertain significance 961315 GRCh37: 7:2959240-2959240
GRCh38: 7:2919606-2919606
41 CARD11 NM_032415.6(CARD11):c.3095A>G (p.Asn1032Ser) SNV Uncertain significance 540973 rs759214987 GRCh37: 7:2951855-2951855
GRCh38: 7:2912221-2912221
42 CARD11 NM_032415.6(CARD11):c.1975G>A (p.Val659Met) SNV Uncertain significance 133793 rs78443994 GRCh37: 7:2962933-2962933
GRCh38: 7:2923299-2923299
43 CARD11 NM_032415.6(CARD11):c.1285G>A (p.Val429Ile) SNV Uncertain significance 640924 rs1298741148 GRCh37: 7:2976727-2976727
GRCh38: 7:2937093-2937093
44 CARD11 NM_032415.6(CARD11):c.2780T>C (p.Leu927Pro) SNV Uncertain significance 652265 rs934009845 GRCh37: 7:2954930-2954930
GRCh38: 7:2915296-2915296
45 CARD11 NM_032415.6(CARD11):c.61G>A (p.Ala21Thr) SNV Uncertain significance 838344 GRCh37: 7:2987368-2987368
GRCh38: 7:2947734-2947734
46 CARD11 NM_032415.6(CARD11):c.3113C>T (p.Ala1038Val) SNV Uncertain significance 838583 GRCh37: 7:2951837-2951837
GRCh38: 7:2912203-2912203
47 CARD11 NM_032415.6(CARD11):c.173A>T (p.Asp58Val) SNV Uncertain significance 841368 GRCh37: 7:2987256-2987256
GRCh38: 7:2947622-2947622
48 CARD11 NM_032415.6(CARD11):c.490A>C (p.Lys164Gln) SNV Uncertain significance 848144 GRCh37: 7:2984040-2984040
GRCh38: 7:2944406-2944406
49 CARD11 NM_032415.6(CARD11):c.2453G>A (p.Arg818Gln) SNV Uncertain significance 852722 GRCh37: 7:2959063-2959063
GRCh38: 7:2919429-2919429
50 CARD11 NM_032415.6(CARD11):c.3080G>A (p.Arg1027Gln) SNV Uncertain significance 858397 GRCh37: 7:2951870-2951870
GRCh38: 7:2912236-2912236

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 MALT1 CARD11 CARD10 BCL10
2 12.21 MALT1 CARD11 BCL10
3
Show member pathways
12.11 MALT1 CARD11 BCL10
4
Show member pathways
12.08 MALT1 CARD11 BCL10
5
Show member pathways
12.08 MALT1 CARD11 CARD10 BCL10
6
Show member pathways
12.05 MALT1 CARD11 BCL10
7 12.02 RNF31 MALT1 BCL10
8
Show member pathways
11.99 MALT1 CARD11 BCL10
9
Show member pathways
11.89 MALT1 CARD11 BCL10
10
Show member pathways
11.76 RNF31 RNF181 BCL10
11
Show member pathways
11.17 MALT1 CARD11 BCL10
12 10.94 MALT1 CARD11 CARD10 BCL10
13 10.62 MALT1 BCL10

GO Terms for Immunodeficiency 11

Cellular components related to Immunodeficiency 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immunological synapse GO:0001772 9.16 CARD11 BCL10
2 polkadots GO:0002096 8.96 MALT1 BCL10
3 CBM complex GO:0032449 8.92 MALT1 CARD11 CARD10 BCL10

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.83 RNF31 RNF181 MALT1 BCL10
2 regulation of apoptotic process GO:0042981 9.73 MALT1 CARD11 CARD10 BCL10
3 Fc-epsilon receptor signaling pathway GO:0038095 9.67 MALT1 CARD11 BCL10
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.63 MALT1 CARD11 BCL10
5 positive regulation of T cell proliferation GO:0042102 9.58 IL21 CARD11
6 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.57 MALT1 BCL10
7 cellular defense response GO:0006968 9.56 CCR6 BCL10
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.56 RNF31 MALT1 CARD11 BCL10
9 positive regulation of B cell proliferation GO:0030890 9.55 IL21 CARD11
10 lipopolysaccharide-mediated signaling pathway GO:0031663 9.54 MALT1 BCL10
11 positive regulation of interleukin-2 production GO:0032743 9.51 MALT1 CARD11
12 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.5 RNF31 CARD11 BCL10
13 activation of NF-kappaB-inducing kinase activity GO:0007250 9.48 MALT1 CARD10
14 T cell receptor signaling pathway GO:0050852 9.46 RNF31 MALT1 CARD11 BCL10
15 regulation of T cell receptor signaling pathway GO:0050856 9.4 MALT1 BCL10
16 response to fungus GO:0009620 9.37 MALT1 BCL10
17 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.26 RNF31 MALT1 CARD11 BCL10
18 positive regulation of T cell activation GO:0050870 8.8 MALT1 CARD11 BCL10

Molecular functions related to Immunodeficiency 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 9.33 RNF31 RNF181 MALT1
2 protein self-association GO:0043621 9.26 MALT1 BCL10
3 kinase activator activity GO:0019209 8.96 MALT1 BCL10
4 CARD domain binding GO:0050700 8.8 CARD11 CARD10 BCL10

Sources for Immunodeficiency 11

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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