MCID: IMM103
MIFTS: 18

Immunodeficiency 37

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 37

MalaCards integrated aliases for Immunodeficiency 37:

Name: Immunodeficiency 37 57 75 29 6 73
Imd37 57 75
Immunodeficiency, Type 37 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 37:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency 37

UniProtKB/Swiss-Prot : 75 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 (B Cell CLL/Lymphoma 10). Affiliated tissues include b cells and t cells, and related phenotypes are seizures and encephalitis

Description from OMIM: 616098

Related Diseases for Immunodeficiency 37

Symptoms & Phenotypes for Immunodeficiency 37

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 37:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 encephalitis 32 HP:0002383
3 recurrent infections 32 HP:0002719
4 immunodeficiency 32 HP:0002721
5 decreased antibody level in blood 32 HP:0004313

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:

41
B Cells, T Cells

Publications for Immunodeficiency 37

Variations for Immunodeficiency 37

ClinVar genetic disease variations for Immunodeficiency 37:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCL10 NM_003921.4(BCL10): c.57+1G> A single nucleotide variant Pathogenic rs606231305 GRCh38 Chromosome 1, 85276295: 85276295
2 BCL10 NM_003921.4(BCL10): c.57+1G> A single nucleotide variant Pathogenic rs606231305 GRCh37 Chromosome 1, 85741978: 85741978
3 BCL10 NM_003921.4(BCL10): c.347-5T> C single nucleotide variant Benign rs77663629 GRCh38 Chromosome 1, 85267987: 85267987
4 BCL10 NM_003921.4(BCL10): c.347-5T> C single nucleotide variant Benign rs77663629 GRCh37 Chromosome 1, 85733670: 85733670
5 BCL10 NM_003921.4(BCL10): c.346+6A> G single nucleotide variant Likely benign rs112473614 GRCh37 Chromosome 1, 85736295: 85736295
6 BCL10 NM_003921.4(BCL10): c.346+6A> G single nucleotide variant Likely benign rs112473614 GRCh38 Chromosome 1, 85270612: 85270612
7 BCL10 NM_003921.4(BCL10): c.13G> T (p.Ala5Ser) single nucleotide variant Benign rs12037217 GRCh37 Chromosome 1, 85742023: 85742023
8 BCL10 NM_003921.4(BCL10): c.13G> T (p.Ala5Ser) single nucleotide variant Benign rs12037217 GRCh38 Chromosome 1, 85276340: 85276340
9 BCL10 NM_003921.4(BCL10): c.338A> T (p.His113Leu) single nucleotide variant Uncertain significance rs775016059 GRCh37 Chromosome 1, 85736309: 85736309
10 BCL10 NM_003921.4(BCL10): c.338A> T (p.His113Leu) single nucleotide variant Uncertain significance rs775016059 GRCh38 Chromosome 1, 85270626: 85270626
11 BCL10 NM_003921.4(BCL10): c.6G> A (p.Glu2=) single nucleotide variant Likely benign rs200626032 GRCh37 Chromosome 1, 85742030: 85742030
12 BCL10 NM_003921.4(BCL10): c.6G> A (p.Glu2=) single nucleotide variant Likely benign rs200626032 GRCh38 Chromosome 1, 85276347: 85276347

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 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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