Immunodeficiency 49 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111979

OMIM® ⁵⁷ 617237

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ D016511

MedGen ⁴¹ C4310656 CN239549

UMLS ⁷⁰ C4310656

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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

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Related Diseases for Immunodeficiency 49

Diseases related to Immunodeficiency 49 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	campomelic dysplasia	10.0	SOX11 RUNX2
2	bone development disease	9.9	RUNX2 HOXD13
3	tricuspid atresia	9.8	TBX1 GATA6
4	synostosis	9.8	RUNX2 HOXD13
5	conotruncal heart malformations	9.8	TBX1 GATA6
6	heart septal defect	9.8	TBX1 GATA6
7	atrioventricular septal defect	9.8	TBX1 GATA6
8	charge syndrome	9.8	TBX1 SOX11
9	patent ductus arteriosus 1	9.8	TBX1 GATA6
10	hypoplastic left heart syndrome	9.8	TBX1 GATA6
11	double outlet right ventricle	9.7	TBX1 GATA6
12	inguinal hernia	9.7	TBX1 GATA6
13	atrial heart septal defect	9.7	TBX1 GATA6
14	patent foramen ovale	9.6	TBX1 GATA6
15	dysostosis	9.6	RUNX2 HOXD13
16	chromosomal disease	9.5	TBX1 HOXD13
17	aortic valve disease 1	9.5	TBX1 RUNX2 GATA6

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

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Symptoms & Phenotypes for Immunodeficiency 49

Human phenotypes related to Immunodeficiency 49:

³¹ (show all 23)

#	Description	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

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Drugs & Therapeutics for Immunodeficiency 49

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 49

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Genetic Tests for Immunodeficiency 49

Genetic tests related to Immunodeficiency 49:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 49 ²⁹	BCL11B

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Anatomical Context for Immunodeficiency 49

MalaCards organs/tissues related to Immunodeficiency 49:

⁴⁰

T Cells

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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	Lessel D...Kubisch C	29985992	2018
2	Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. ⁶ ⁵⁷	Punwani D...Puck JM	27959755	2016
3	[A case report of BCL11B mutation induced neurodevelopmental disorder and literature review]. ⁶¹	Yan S...An YF	32135595	2020
4	Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities. ⁶¹	Yang S...Xiao Z	33194885	2020

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Genes for Immunodeficiency 49

Genes related to Immunodeficiency 49 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BCL11B	BAF Chromatin Remodeling Complex Subunit BCL11B	Protein Coding	1324.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	27959755
2	SOX11	SRY-Box Transcription Factor 11	Protein Coding	6.13	DISEASES inferred ¹⁵
3	GATA6	GATA Binding Protein 6	Protein Coding	5.83	DISEASES inferred ¹⁵
4	HOXD13	Homeobox D13	Protein Coding	4.83	DISEASES inferred ¹⁵
5	TBX1	T-Box Transcription Factor 1	Protein Coding	4.6	DISEASES inferred ¹⁵
6	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	3.7	DISEASES inferred ¹⁵

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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

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Expression for Immunodeficiency 49

Search GEO for disease gene expression data for Immunodeficiency 49.

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Pathways for Immunodeficiency 49

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

#	Super pathways	Score	Top Affiliating Genes
1	Notch-mediated HES/HEY network ¹	10.64	RUNX2 GATA6
2	Heart Development ¹	10.29	TBX1 GATA6

Sources

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

Sources for Immunodeficiency 49

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Immunodeficiency 49 (IMD49)

Aliases & Classifications for Immunodeficiency 49

MalaCards integrated aliases for Immunodeficiency 49:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 49

Related Diseases for Immunodeficiency 49

Diseases related to Immunodeficiency 49 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Immunodeficiency 49

Human phenotypes related to Immunodeficiency 49:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes related to Immunodeficiency 49:

Drugs & Therapeutics for Immunodeficiency 49

Genetic Tests for Immunodeficiency 49

Genetic tests related to Immunodeficiency 49:

Anatomical Context for Immunodeficiency 49

MalaCards organs/tissues related to Immunodeficiency 49:

Publications for Immunodeficiency 49

Articles related to Immunodeficiency 49:

Genes for Immunodeficiency 49

Genes related to Immunodeficiency 49 (1 elite genes):

Variations for Immunodeficiency 49

ClinVar genetic disease variations for Immunodeficiency 49:

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

Expression for Immunodeficiency 49

Pathways for Immunodeficiency 49

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

GO Terms for Immunodeficiency 49

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

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

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

Sources for Immunodeficiency 49