IMD37
MCID: IMM103
MIFTS: 24

Immunodeficiency 37 (IMD37)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 37

MalaCards integrated aliases for Immunodeficiency 37:

Name: Immunodeficiency 37 57 12 72 29 6 70
Imd37 57 12 72
Immunodeficiency, Type 37 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one family has been reported (last curated november 2014)


HPO:

31
immunodeficiency 37:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111939
OMIM® 57 616098
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
UMLS 70 C4015195

Summaries for Immunodeficiency 37

UniProtKB/Swiss-Prot : 72 Immunodeficiency 37: A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive.

MalaCards based summary : Immunodeficiency 37, is also known as imd37, and has symptoms including seizures An important gene associated with Immunodeficiency 37 is BCL10 (BCL10 Immune Signaling Adaptor). Affiliated tissues include b cells and t cells, and related phenotypes are encephalitis and immunodeficiency

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has material basis in homozygous or compound heterozygous mutation in BCL10 on chromosome 1p22.3.

More information from OMIM: 616098 PS300755

Related Diseases for Immunodeficiency 37

Symptoms & Phenotypes for Immunodeficiency 37

Human phenotypes related to Immunodeficiency 37:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 encephalitis 31 HP:0002383
2 immunodeficiency 31 HP:0002721
3 recurrent infections 31 HP:0002719
4 seizure 31 HP:0001250
5 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
encephalitis

Respiratory:
recurrent infections

Head And Neck Mouth:
candida infections

Immunology:
immunodeficiency
hypogammaglobulinemia
decreased memory b cells
recurrent bacterial and viral infections
decreased memory t cells
more
Head And Neck Ears:
otitis, recurrent

Abdomen Gastrointestinal:
infectious diarrhea

Clinical features from OMIM®:

616098 (Updated 20-May-2021)

UMLS symptoms related to Immunodeficiency 37:


seizures

Drugs & Therapeutics for Immunodeficiency 37

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 37

Genetic Tests for Immunodeficiency 37

Genetic tests related to Immunodeficiency 37:

# Genetic test Affiliating Genes
1 Immunodeficiency 37 29 BCL10

Anatomical Context for Immunodeficiency 37

MalaCards organs/tissues related to Immunodeficiency 37:

40
B Cells, T Cells

Publications for Immunodeficiency 37

Articles related to Immunodeficiency 37:

(showing 3, show less)
# Title Authors PMID Year
1
Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. 57 6
25365219 2014
2
Defective development and function of Bcl10-deficient follicular, marginal zone and B1 B cells. 57
12910267 2003
3
Bcl10 is a positive regulator of antigen receptor-induced activation of NF-kappaB and neural tube closure. 57
11163238 2001

Variations for Immunodeficiency 37

ClinVar genetic disease variations for Immunodeficiency 37:

6 (showing 34, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCL10 NM_003921.5(BCL10):c.57+1G>A SNV Pathogenic 160347 rs606231305 GRCh37: 1:85741978-85741978
GRCh38: 1:85276295-85276295
2 BCL10 NM_003921.5(BCL10):c.338A>T (p.His113Leu) SNV Uncertain significance 475272 rs775016059 GRCh37: 1:85736309-85736309
GRCh38: 1:85270626-85270626
3 BCL10 NM_003921.5(BCL10):c.181A>G (p.Ser61Gly) SNV Uncertain significance 576800 rs542952039 GRCh37: 1:85736466-85736466
GRCh38: 1:85270783-85270783
4 BCL10 NM_003921.5(BCL10):c.370C>G (p.Pro124Ala) SNV Uncertain significance 644239 rs1250409831 GRCh37: 1:85733642-85733642
GRCh38: 1:85267959-85267959
5 BCL10 NM_003921.5(BCL10):c.151G>C (p.Asp51His) SNV Uncertain significance 651016 rs1570333814 GRCh37: 1:85736496-85736496
GRCh38: 1:85270813-85270813
6 BCL10 NM_003921.5(BCL10):c.694C>T (p.Arg232Ter) SNV Uncertain significance 652565 rs376302558 GRCh37: 1:85733318-85733318
GRCh38: 1:85267635-85267635
7 BCL10 NM_003921.5(BCL10):c.529C>G (p.Leu177Val) SNV Uncertain significance 849346 GRCh37: 1:85733483-85733483
GRCh38: 1:85267800-85267800
8 BCL10 NM_003921.5(BCL10):c.271A>C (p.Thr91Pro) SNV Uncertain significance 854836 GRCh37: 1:85736376-85736376
GRCh38: 1:85270693-85270693
9 BCL10 NM_003921.5(BCL10):c.58-3del Deletion Uncertain significance 860273 GRCh37: 1:85736592-85736592
GRCh38: 1:85270909-85270909
10 BCL10 NM_003921.5(BCL10):c.530T>G (p.Leu177Arg) SNV Uncertain significance 862382 GRCh37: 1:85733482-85733482
GRCh38: 1:85267799-85267799
11 BCL10 NM_003921.5(BCL10):c.285_286delinsCG (p.Ile96Val) Indel Uncertain significance 934334 GRCh37: 1:85736361-85736362
GRCh38: 1:85270678-85270679
12 BCL10 NM_003921.5(BCL10):c.433_437delinsTTTTT (p.Glu145_Lys146delinsPheLeu) Indel Uncertain significance 935417 GRCh37: 1:85733575-85733579
GRCh38: 1:85267892-85267896
13 BCL10 NM_003921.5(BCL10):c.289C>G (p.Gln97Glu) SNV Uncertain significance 936125 GRCh37: 1:85736358-85736358
GRCh38: 1:85270675-85270675
14 BCL10 NM_003921.5(BCL10):c.263G>A (p.Arg88Gln) SNV Uncertain significance 948247 GRCh37: 1:85736384-85736384
GRCh38: 1:85270701-85270701
15 BCL10 NM_003921.5(BCL10):c.379G>A (p.Asp127Asn) SNV Uncertain significance 948261 GRCh37: 1:85733633-85733633
GRCh38: 1:85267950-85267950
16 BCL10 NM_003921.5(BCL10):c.322A>G (p.Asn108Asp) SNV Uncertain significance 953216 GRCh37: 1:85736325-85736325
GRCh38: 1:85270642-85270642
17 BCL10 NM_003921.5(BCL10):c.624G>C (p.Gln208His) SNV Uncertain significance 960572 GRCh37: 1:85733388-85733388
GRCh38: 1:85267705-85267705
18 BCL10 NM_003921.5(BCL10):c.445G>A (p.Ala149Thr) SNV Uncertain significance 998471 GRCh37: 1:85733567-85733567
GRCh38: 1:85267884-85267884
19 BCL10 NM_003921.5(BCL10):c.260G>A (p.Arg87Gln) SNV Uncertain significance 1003339 GRCh37: 1:85736387-85736387
GRCh38: 1:85270704-85270704
20 BCL10 NM_003921.5(BCL10):c.58G>A (p.Ala20Thr) SNV Uncertain significance 1009636 GRCh37: 1:85736589-85736589
GRCh38: 1:85270906-85270906
21 BCL10 NM_003921.5(BCL10):c.682C>T (p.Arg228Cys) SNV Uncertain significance 1019881 GRCh37: 1:85733330-85733330
GRCh38: 1:85267647-85267647
22 BCL10 NM_003921.5(BCL10):c.286A>G (p.Ile96Val) SNV Uncertain significance 1021998 GRCh37: 1:85736361-85736361
GRCh38: 1:85270678-85270678
23 BCL10 NM_003921.5(BCL10):c.360_362dup (p.Ser121dup) Duplication Uncertain significance 1042576 GRCh37: 1:85733649-85733650
GRCh38: 1:85267966-85267967
24 BCL10 NM_003921.5(BCL10):c.419del (p.Glu140fs) Deletion Uncertain significance 1055135 GRCh37: 1:85733593-85733593
GRCh38: 1:85267910-85267910
25 BCL10 NM_003921.5(BCL10):c.649A>G (p.Asn217Asp) SNV Uncertain significance 1056866 GRCh37: 1:85733363-85733363
GRCh38: 1:85267680-85267680
26 BCL10 NM_003921.5(BCL10):c.76G>A (p.Val26Ile) SNV Uncertain significance 1063260 GRCh37: 1:85736571-85736571
GRCh38: 1:85270888-85270888
27 BCL10 NM_003921.5(BCL10):c.489G>A (p.Thr163=) SNV Likely benign 758473 rs139473915 GRCh37: 1:85733523-85733523
GRCh38: 1:85267840-85267840
28 BCL10 NM_003921.5(BCL10):c.58-5T>C SNV Likely benign 765188 rs572902078 GRCh37: 1:85736594-85736594
GRCh38: 1:85270911-85270911
29 BCL10 NM_003921.5(BCL10):c.346+6A>G SNV Likely benign 475273 rs112473614 GRCh37: 1:85736295-85736295
GRCh38: 1:85270612-85270612
30 BCL10 NM_003921.5(BCL10):c.6G>A (p.Glu2=) SNV Likely benign 542067 rs200626032 GRCh37: 1:85742030-85742030
GRCh38: 1:85276347-85276347
31 BCL10 NM_003921.5(BCL10):c.588G>A (p.Gly196=) SNV Likely benign 800046 rs1570329297 GRCh37: 1:85733424-85733424
GRCh38: 1:85267741-85267741
32 BCL10 NM_003921.5(BCL10):c.347-5T>C SNV Benign 475274 rs77663629 GRCh37: 1:85733670-85733670
GRCh38: 1:85267987-85267987
33 BCL10 NM_003921.5(BCL10):c.13G>T (p.Ala5Ser) SNV Benign 475271 rs12037217 GRCh37: 1:85742023-85742023
GRCh38: 1:85276340-85276340
34 BCL10 NM_003921.5(BCL10):c.346+9T>C SNV Benign 795882 rs538273638 GRCh37: 1:85736292-85736292
GRCh38: 1:85270609-85270609

Expression for Immunodeficiency 37

Search GEO for disease gene expression data for Immunodeficiency 37.

Pathways for Immunodeficiency 37

GO Terms for Immunodeficiency 37

Sources for Immunodeficiency 37

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....