IMD49
MCID: IMM141
MIFTS: 38

Immunodeficiency 49 (IMD49)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 49

MalaCards integrated aliases for Immunodeficiency 49:

Name: Immunodeficiency 49 57 12 72 29 6 15
Imd49 57 12 72
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 57 72
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 57 72
Severe Combined Immunodeficiency, T-Cell Negative, B-Cell Positive, Nk Cell Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 12
Scid, T-Cell Negative, B-Cell Positive, Nk Cell Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 12
Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
mutations occur de novo
two unrelated children have been reported (last curated august 2018)


HPO:

31
immunodeficiency 49:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Immunodeficiency 49

UniProtKB/Swiss-Prot : 72 Immunodeficiency 49: A form of severe combined immunodeficiency characterized by severe T- cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities.

MalaCards based summary : Immunodeficiency 49, also known as imd49, is related to campomelic dysplasia and bone development disease. An important gene associated with Immunodeficiency 49 is BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B), and among its related pathways/superpathways are Notch-mediated HES/HEY network and Heart Development. Affiliated tissues include t cells, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has material basis in heterozygous mutation in BCL11B on chromosome 14q32.2.

More information from OMIM: 617237 PS300755

Related Diseases for Immunodeficiency 49

Graphical network of the top 20 diseases related to Immunodeficiency 49:



Diseases related to Immunodeficiency 49

Symptoms & Phenotypes for Immunodeficiency 49

Human phenotypes related to Immunodeficiency 49:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 hypertelorism 31 HP:0000316
4 umbilical hernia 31 HP:0001537
5 spastic tetraplegia 31 HP:0002510
6 absent speech 31 HP:0001344
7 micrognathia 31 HP:0000347
8 lymphopenia 31 HP:0001888
9 upslanted palpebral fissure 31 HP:0000582
10 short philtrum 31 HP:0000322
11 wormian bones 31 HP:0002645
12 pulmonary artery stenosis 31 HP:0004415
13 eosinophilia 31 HP:0001880
14 posteriorly rotated ears 31 HP:0000358
15 cutis laxa 31 HP:0000973
16 hirsutism 31 HP:0001007
17 generalized hypotonia 31 HP:0001290
18 short palpebral fissure 31 HP:0012745
19 severe combined immunodeficiency 31 HP:0004430
20 natal tooth 31 HP:0000695
21 inflammatory abnormality of the skin 31 HP:0011123
22 myopathic facies 31 HP:0002058
23 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
spastic quadriplegia
delayed psychomotor development, severe
lack of speech
more
Muscle Soft Tissue:
umbilical hernia
hypotonia

Skeletal Skull:
wormian bones

Immunology:
eosinophilia
severe combined immunodeficiency
t-cell lymphopenia
no detectable t-cell-receptor excision circles (trecs)
no naive helper cd4+ t cells
more
Skin Nails Hair Hair:
hirsutism

Head And Neck Teeth:
neonatal teeth

Head And Neck Eyes:
hypertelorism
short palpebral fissures
upslanted palpebral fissures

Head And Neck Face:
micrognathia
short philtrum
myopathic facies

Cardiovascular Vascular:
pulmonary artery stenosis

Head And Neck Ears:
posteriorly rotated ears

Skin Nails Hair Skin:
dermatitis
loose skin
skin folds

Clinical features from OMIM®:

617237 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 49 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.02 TBX1
2 Increased Nanog expression GR00371-A-2 9.02 SOX11 TBX1
3 Increased Nanog expression GR00371-A-4 9.02 SOX11 TBX1

MGI Mouse Phenotypes related to Immunodeficiency 49:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.88 BCL11B GATA6 HOXD13 RUNX2 SOX11 TBX1
2 embryo MP:0005380 9.85 BCL11B GATA6 HOXD13 SOX11 TBX1
3 endocrine/exocrine gland MP:0005379 9.83 BCL11B HOXD13 RUNX2 SOX11 TBX1
4 craniofacial MP:0005382 9.8 BCL11B RUNX2 SOX11 TBX1
5 digestive/alimentary MP:0005381 9.78 HOXD13 RUNX2 SOX11 TBX1
6 integument MP:0010771 9.77 BCL11B HOXD13 RUNX2 SOX11 TBX1
7 mortality/aging MP:0010768 9.73 BCL11B GATA6 HOXD13 RUNX2 SOX11 TBX1
8 limbs/digits/tail MP:0005371 9.72 GATA6 HOXD13 RUNX2 SOX11 TBX1
9 muscle MP:0005369 9.46 GATA6 HOXD13 RUNX2 TBX1
10 respiratory system MP:0005388 9.26 GATA6 RUNX2 SOX11 TBX1
11 skeleton MP:0005390 9.02 BCL11B HOXD13 RUNX2 SOX11 TBX1

Drugs & Therapeutics for Immunodeficiency 49

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 49

Genetic Tests for Immunodeficiency 49

Genetic tests related to Immunodeficiency 49:

# Genetic test Affiliating Genes
1 Immunodeficiency 49 29 BCL11B

Anatomical Context for Immunodeficiency 49

MalaCards organs/tissues related to Immunodeficiency 49:

40
T Cells

Publications for Immunodeficiency 49

Articles related to Immunodeficiency 49:

# Title Authors PMID Year
1
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. 6 57
29985992 2018
2
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. 6 57
27959755 2016
3
[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review]. 61
32135595 2020
4
Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities. 61
33194885 2020

Variations for Immunodeficiency 49

ClinVar genetic disease variations for Immunodeficiency 49:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCL11B NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys) SNV Pathogenic 254673 rs750610248 GRCh37: 14:99641850-99641850
GRCh38: 14:99175513-99175513
2 BCL11B NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) SNV Pathogenic 560174 rs888230251 GRCh37: 14:99640752-99640752
GRCh38: 14:99174415-99174415
3 BCL11B NM_138576.4(BCL11B):c.1003A>G (p.Met335Val) SNV Uncertain significance 1029132 GRCh37: 14:99642170-99642170
GRCh38: 14:99175833-99175833
4 BCL11B NM_138576.4(BCL11B):c.296C>T (p.Pro99Leu) SNV Uncertain significance 1029133 GRCh37: 14:99723939-99723939
GRCh38: 14:99257602-99257602
5 BCL11B NM_138576.4(BCL11B):c.906C>A (p.His302Gln) SNV Uncertain significance 1033088 GRCh37: 14:99642267-99642267
GRCh38: 14:99175930-99175930

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 49:

72
# Symbol AA change Variation ID SNP ID
1 BCL11B p.Asn441Lys VAR_078423 rs750610248
2 BCL11B p.Asn807Lys VAR_081175 rs888230251

Expression for Immunodeficiency 49

Search GEO for disease gene expression data for Immunodeficiency 49.

Pathways for Immunodeficiency 49

Pathways related to Immunodeficiency 49 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 RUNX2 GATA6
2 10.29 TBX1 GATA6

GO Terms for Immunodeficiency 49

Cellular components related to Immunodeficiency 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.43 TBX1 SOX11 RUNX2 HOXD13 GATA6 BCL11B
2 chromatin GO:0000785 9.02 TBX1 SOX11 RUNX2 HOXD13 GATA6

Biological processes related to Immunodeficiency 49 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.77 TBX1 RUNX2 HOXD13 GATA6 BCL11B
2 positive regulation of cell proliferation GO:0008284 9.74 TBX1 SOX11 RUNX2
3 positive regulation of transcription, DNA-templated GO:0045893 9.71 TBX1 SOX11 RUNX2 GATA6
4 regulation of gene expression GO:0010468 9.67 RUNX2 GATA6 BCL11B
5 regulation of transcription, DNA-templated GO:0006355 9.65 TBX1 SOX11 RUNX2 HOXD13 GATA6
6 anterior/posterior pattern specification GO:0009952 9.58 TBX1 HOXD13
7 epithelial cell differentiation GO:0030855 9.56 TBX1 GATA6
8 positive regulation of osteoblast differentiation GO:0045669 9.55 SOX11 RUNX2
9 pattern specification process GO:0007389 9.54 TBX1 HOXD13
10 outflow tract morphogenesis GO:0003151 9.52 TBX1 SOX11
11 thymus development GO:0048538 9.51 TBX1 BCL11B
12 skeletal system development GO:0001501 9.5 SOX11 RUNX2 HOXD13
13 cellular response to BMP stimulus GO:0071773 9.48 RUNX2 GATA6
14 embryonic cranial skeleton morphogenesis GO:0048701 9.46 TBX1 RUNX2
15 outflow tract septum morphogenesis GO:0003148 9.43 TBX1 GATA6
16 soft palate development GO:0060023 9.16 TBX1 SOX11
17 odontogenesis of dentin-containing tooth GO:0042475 9.13 TBX1 RUNX2 BCL11B
18 positive regulation of transcription by RNA polymerase II GO:0045944 9.1 TBX1 SOX11 RUNX2 HOXD13 GATA6 BCL11B

Molecular functions related to Immunodeficiency 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.83 TBX1 SOX11 RUNX2 HOXD13 GATA6
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.77 TBX1 SOX11 RUNX2 HOXD13 GATA6
3 sequence-specific DNA binding GO:0043565 9.65 TBX1 GATA6 BCL11B
4 chromatin binding GO:0003682 9.63 RUNX2 HOXD13 GATA6
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.62 SOX11 RUNX2 HOXD13 BCL11B
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.58 SOX11 RUNX2 GATA6
7 sequence-specific double-stranded DNA binding GO:1990837 9.55 TBX1 RUNX2 HOXD13 GATA6 BCL11B
8 proximal promoter sequence-specific DNA binding GO:0000987 9.43 SOX11 RUNX2 HOXD13
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 TBX1 SOX11 RUNX2 HOXD13 GATA6 BCL11B
10 DNA-binding transcription factor activity GO:0003700 9.1 TBX1 SOX11 RUNX2 HOXD13 GATA6 BCL11B

Sources for Immunodeficiency 49

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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