MCID: IMM120
MIFTS: 22

Immunodeficiency 40

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

Aliases & Classifications for Immunodeficiency 40

MalaCards integrated aliases for Immunodeficiency 40:

Name: Immunodeficiency 40 57 75 29 6
Imd40 57 75
Immunodeficiency, Type 40 40
Dock2 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
dock2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood occurs without bone marrow transplantation


HPO:

32
immunodeficiency 40:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 616433
Orphanet 59 ORPHA447737
ICD10 via Orphanet 34 D81.8
MeSH 44 D016511
SNOMED-CT via HPO 69 258211005 234532001

Summaries for Immunodeficiency 40

OMIM : 57 Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015). (616433)

MalaCards based summary : Immunodeficiency 40, also known as imd40, is related to dock2 deficiency. An important gene associated with Immunodeficiency 40 is DOCK2 (Dedicator Of Cytokinesis 2). Affiliated tissues include t cells, b cells and nk cells, and related phenotype is immunodeficiency.

UniProtKB/Swiss-Prot : 75 Immunodeficiency 40: A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation.

Related Diseases for Immunodeficiency 40

Diseases related to Immunodeficiency 40 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dock2 deficiency 12.2

Symptoms & Phenotypes for Immunodeficiency 40

Symptoms via clinical synopsis from OMIM:

57
Immunology:
immunodeficiency
invasive bacterial, viral, and mycobacterial infections
t-cell lymphopenia
defective t-cell proliferative responses
b-cell lymphopenia (in some patients)
more

Clinical features from OMIM:

616433

Human phenotypes related to Immunodeficiency 40:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721

Drugs & Therapeutics for Immunodeficiency 40

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 40

Genetic Tests for Immunodeficiency 40

Genetic tests related to Immunodeficiency 40:

# Genetic test Affiliating Genes
1 Immunodeficiency 40 29 DOCK2

Anatomical Context for Immunodeficiency 40

MalaCards organs/tissues related to Immunodeficiency 40:

41
T Cells, B Cells, Nk Cells, Bone, Bone Marrow

Publications for Immunodeficiency 40

Articles related to Immunodeficiency 40:

# Title Authors Year
1
DOCK2 Deficiency in a Patient with Hyper IgM Phenotype. ( 29204803 )
2018
2
DOCK2 deficiency mitigates HFD-induced obesity by reducing adipose tissue inflammation and increasing energy expenditure. ( 28716822 )
2017
3
Inherited DOCK2 deficiency in patients with early-onset invasive infections. ( 26083206 )
2015

Variations for Immunodeficiency 40

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 40:

75
# Symbol AA change Variation ID SNP ID
1 DOCK2 p.Arg751Ser VAR_073859
2 DOCK2 p.Arg1104Trp VAR_073860 rs780318765

ClinVar genetic disease variations for Immunodeficiency 40:

6
(show top 50) (show all 123)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOCK2 DOCK2, 2-BP INS insertion Pathogenic
2 DOCK2 NM_004946.2(DOCK2): c.3970C> T (p.Gln1324Ter) single nucleotide variant Pathogenic rs762909359 GRCh37 Chromosome 5, 169474517: 169474517
3 DOCK2 NM_004946.2(DOCK2): c.3970C> T (p.Gln1324Ter) single nucleotide variant Pathogenic rs762909359 GRCh38 Chromosome 5, 170047513: 170047513
4 DOCK2 NM_004946.2(DOCK2): c.3310C> T (p.Arg1104Trp) single nucleotide variant Pathogenic rs780318765 GRCh37 Chromosome 5, 169446041: 169446041
5 DOCK2 NM_004946.2(DOCK2): c.3310C> T (p.Arg1104Trp) single nucleotide variant Pathogenic rs780318765 GRCh38 Chromosome 5, 170019037: 170019037
6 DOCK2 DOCK2, ARG751SER undetermined variant Pathogenic
7 DOCK2 DOCK2, 2-BP INS insertion Pathogenic
8 DOCK2 NM_004946.2(DOCK2): c.1594G> A (p.Val532Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149411090 GRCh37 Chromosome 5, 169139162: 169139162
9 DOCK2 NM_004946.2(DOCK2): c.1594G> A (p.Val532Met) single nucleotide variant Conflicting interpretations of pathogenicity rs149411090 GRCh38 Chromosome 5, 169712158: 169712158
10 DOCK2 NM_004946.2(DOCK2): c.843+7G> A single nucleotide variant Benign rs72841138 GRCh38 Chromosome 5, 169689340: 169689340
11 DOCK2 NM_004946.2(DOCK2): c.843+7G> A single nucleotide variant Benign rs72841138 GRCh37 Chromosome 5, 169116344: 169116344
12 DOCK2 NM_004946.2(DOCK2): c.1417A> G (p.Met473Val) single nucleotide variant Benign rs201626676 GRCh37 Chromosome 5, 169135206: 169135206
13 DOCK2 NM_004946.2(DOCK2): c.1417A> G (p.Met473Val) single nucleotide variant Benign rs201626676 GRCh38 Chromosome 5, 169708202: 169708202
14 DOCK2 NM_004946.2(DOCK2): c.1555+10A> G single nucleotide variant Likely benign rs373086704 GRCh38 Chromosome 5, 169712017: 169712017
15 DOCK2 NM_004946.2(DOCK2): c.1555+10A> G single nucleotide variant Likely benign rs373086704 GRCh37 Chromosome 5, 169139021: 169139021
16 DOCK2 NM_004946.2(DOCK2): c.1767T> G (p.Val589=) single nucleotide variant Benign rs34864600 GRCh37 Chromosome 5, 169141139: 169141139
17 DOCK2 NM_004946.2(DOCK2): c.1767T> G (p.Val589=) single nucleotide variant Benign rs34864600 GRCh38 Chromosome 5, 169714135: 169714135
18 DOCK2 NM_004946.2(DOCK2): c.2199C> T (p.Ile733=) single nucleotide variant Benign rs35530753 GRCh37 Chromosome 5, 169145727: 169145727
19 DOCK2 NM_004946.2(DOCK2): c.2199C> T (p.Ile733=) single nucleotide variant Benign rs35530753 GRCh38 Chromosome 5, 169718723: 169718723
20 DOCK2 NM_004946.2(DOCK2): c.2352A> G (p.Gln784=) single nucleotide variant Benign rs13155521 GRCh38 Chromosome 5, 169747480: 169747480
21 DOCK2 NM_004946.2(DOCK2): c.2352A> G (p.Gln784=) single nucleotide variant Benign rs13155521 GRCh37 Chromosome 5, 169174484: 169174484
22 DOCK2 NM_004946.2(DOCK2): c.3528C> T (p.Asn1176=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 169461463: 169461463
23 DOCK2 NM_004946.2(DOCK2): c.3528C> T (p.Asn1176=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 170034459: 170034459
24 DOCK2 NM_004946.2(DOCK2): c.4314C> T (p.Tyr1438=) single nucleotide variant Benign rs17647491 GRCh37 Chromosome 5, 169483706: 169483706
25 DOCK2 NM_004946.2(DOCK2): c.4314C> T (p.Tyr1438=) single nucleotide variant Benign rs17647491 GRCh38 Chromosome 5, 170056702: 170056702
26 DOCK2 NM_004946.2(DOCK2): c.148A> C (p.Ile50Leu) single nucleotide variant Uncertain significance rs200852440 GRCh37 Chromosome 5, 169096312: 169096312
27 DOCK2 NM_004946.2(DOCK2): c.148A> C (p.Ile50Leu) single nucleotide variant Uncertain significance rs200852440 GRCh38 Chromosome 5, 169669308: 169669308
28 DOCK2 NM_004946.2(DOCK2): c.279G> T (p.Thr93=) single nucleotide variant Benign rs144632263 GRCh38 Chromosome 5, 169671132: 169671132
29 DOCK2 NM_004946.2(DOCK2): c.279G> T (p.Thr93=) single nucleotide variant Benign rs144632263 GRCh37 Chromosome 5, 169098136: 169098136
30 DOCK2 NM_004946.2(DOCK2): c.752C> T (p.Thr251Met) single nucleotide variant Benign rs78243868 GRCh37 Chromosome 5, 169111345: 169111345
31 DOCK2 NM_004946.2(DOCK2): c.752C> T (p.Thr251Met) single nucleotide variant Benign rs78243868 GRCh38 Chromosome 5, 169684341: 169684341
32 DOCK2 NM_004946.2(DOCK2): c.1843+6C> T single nucleotide variant Uncertain significance rs374362264 GRCh37 Chromosome 5, 169141221: 169141221
33 DOCK2 NM_004946.2(DOCK2): c.1843+6C> T single nucleotide variant Uncertain significance rs374362264 GRCh38 Chromosome 5, 169714217: 169714217
34 DOCK2 NM_004946.2(DOCK2): c.3828G> C (p.Leu1276=) single nucleotide variant Benign rs6555882 GRCh37 Chromosome 5, 169469088: 169469088
35 DOCK2 NM_004946.2(DOCK2): c.3828G> C (p.Leu1276=) single nucleotide variant Benign rs6555882 GRCh38 Chromosome 5, 170042084: 170042084
36 DOCK2 NM_004946.2(DOCK2): c.366C> T (p.Tyr122=) single nucleotide variant Benign rs35393134 GRCh37 Chromosome 5, 169101345: 169101345
37 DOCK2 NM_004946.2(DOCK2): c.366C> T (p.Tyr122=) single nucleotide variant Benign rs35393134 GRCh38 Chromosome 5, 169674341: 169674341
38 DOCK2 NM_004946.2(DOCK2): c.753G> A (p.Thr251=) single nucleotide variant Benign rs146746458 GRCh38 Chromosome 5, 169684342: 169684342
39 DOCK2 NM_004946.2(DOCK2): c.753G> A (p.Thr251=) single nucleotide variant Benign rs146746458 GRCh37 Chromosome 5, 169111346: 169111346
40 DOCK2 NM_004946.2(DOCK2): c.1360G> A (p.Ala454Thr) single nucleotide variant Likely benign rs114888195 GRCh37 Chromosome 5, 169129408: 169129408
41 DOCK2 NM_004946.2(DOCK2): c.1360G> A (p.Ala454Thr) single nucleotide variant Likely benign rs114888195 GRCh38 Chromosome 5, 169702404: 169702404
42 DOCK2 NM_004946.2(DOCK2): c.2241T> C (p.Ile747=) single nucleotide variant Benign rs35887608 GRCh37 Chromosome 5, 169145769: 169145769
43 DOCK2 NM_004946.2(DOCK2): c.2241T> C (p.Ile747=) single nucleotide variant Benign rs35887608 GRCh38 Chromosome 5, 169718765: 169718765
44 DOCK2 NM_004946.2(DOCK2): c.2946G> A (p.Lys982=) single nucleotide variant Benign rs36028557 GRCh37 Chromosome 5, 169412879: 169412879
45 DOCK2 NM_004946.2(DOCK2): c.2946G> A (p.Lys982=) single nucleotide variant Benign rs36028557 GRCh38 Chromosome 5, 169985875: 169985875
46 DOCK2 NM_004946.2(DOCK2): c.3945T> C (p.Tyr1315=) single nucleotide variant Benign rs34133853 GRCh38 Chromosome 5, 170045884: 170045884
47 DOCK2 NM_004946.2(DOCK2): c.3945T> C (p.Tyr1315=) single nucleotide variant Benign rs34133853 GRCh37 Chromosome 5, 169472888: 169472888
48 DOCK2 NM_004946.2(DOCK2): c.5344C> T (p.Arg1782Cys) single nucleotide variant Benign rs149343589 GRCh37 Chromosome 5, 169508902: 169508902
49 DOCK2 NM_004946.2(DOCK2): c.5344C> T (p.Arg1782Cys) single nucleotide variant Benign rs149343589 GRCh38 Chromosome 5, 170081898: 170081898
50 DOCK2 NM_004946.2(DOCK2): c.566A> G (p.Glu189Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 169681839: 169681839

Expression for Immunodeficiency 40

Search GEO for disease gene expression data for Immunodeficiency 40.

Pathways for Immunodeficiency 40

GO Terms for Immunodeficiency 40

Sources for Immunodeficiency 40

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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