MCID: IMM141
MIFTS: 20

Immunodeficiency 49

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 49

MalaCards integrated aliases for Immunodeficiency 49:

Name: Immunodeficiency 49 57 75 6
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 57 75
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 57 75
Imd49 57 75
Scid, T-Cell-Negative, B-Cell-Positive, Nk-Cell-Positive, with Intellectual Disability, Spasticity, and Craniofacial Abnormalities 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
one child has been reported (last curated december 2016)


HPO:

32
immunodeficiency 49:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Immunodeficiency 49

UniProtKB/Swiss-Prot : 75 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, is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities. An important gene associated with Immunodeficiency 49 is BCL11B (B Cell CLL/Lymphoma 11B). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are hypertelorism and micrognathia

Description from OMIM: 617237

Related Diseases for Immunodeficiency 49

Symptoms & Phenotypes for Immunodeficiency 49

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
short palpebral fissures

Muscle Soft Tissue:
umbilical hernia
hypotonia

Skeletal Skull:
wormian bones

Skin Nails Hair Hair:
hirsutism

Skin Nails Hair Skin:
dermatitis
loose skin folds

Neurologic Central Nervous System:
intellectual disability
seizures
spastic quadriplegia
delayed psychomotor development, severe
lack of speech
more
Head And Neck Face:
micrognathia

Cardiovascular Vascular:
pulmonary artery stenosis

Immunology:
severe combined immunodeficiency
t-cell lymphopenia
no detectable t-cell-receptor excision circles (trecs)
no naive helper cd4+ t cells
impaired t-cell proliferative response

Head And Neck Teeth:
neonatal teeth


Clinical features from OMIM:

617237

Human phenotypes related to Immunodeficiency 49:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 micrognathia 32 HP:0000347
3 natal tooth 32 HP:0000695
4 hirsutism 32 HP:0001007
5 intellectual disability 32 HP:0001249
6 seizures 32 HP:0001250
7 global developmental delay 32 HP:0001263
8 generalized hypotonia 32 HP:0001290
9 absent speech 32 HP:0001344
10 umbilical hernia 32 HP:0001537
11 spastic tetraplegia 32 HP:0002510
12 wormian bones 32 HP:0002645
13 pulmonary artery stenosis 32 HP:0004415
14 severe combined immunodeficiency 32 HP:0004430
15 inflammatory abnormality of the skin 32 HP:0011123
16 short palpebral fissure 32 HP:0012745

Drugs & Therapeutics for Immunodeficiency 49

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 49

Genetic Tests for Immunodeficiency 49

Anatomical Context for Immunodeficiency 49

MalaCards organs/tissues related to Immunodeficiency 49:

41
T Cells, B Cells, Nk Cells, Skin, Bone

Publications for Immunodeficiency 49

Variations for Immunodeficiency 49

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

75
# Symbol AA change Variation ID SNP ID
1 BCL11B p.Asn441Lys VAR_078423 rs750610248

ClinVar genetic disease variations for Immunodeficiency 49:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCL11B NM_138576.3(BCL11B): c.1323T> G (p.Asn441Lys) single nucleotide variant Pathogenic rs750610248 GRCh38 Chromosome 14, 99175513: 99175513
2 BCL11B NM_138576.3(BCL11B): c.1323T> G (p.Asn441Lys) single nucleotide variant Pathogenic rs750610248 GRCh37 Chromosome 14, 99641850: 99641850

Expression for Immunodeficiency 49

Search GEO for disease gene expression data for Immunodeficiency 49.

Pathways for Immunodeficiency 49

GO Terms for Immunodeficiency 49

Sources for Immunodeficiency 49

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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