Immunodeficiency 32a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunodeficiency 32a

MalaCards integrated aliases for Immunodeficiency 32a:

Name: Immunodeficiency 32a ⁵⁷ ⁷⁴ ²⁹ ⁶ ⁷²

Imd32a ⁵⁷ ⁷⁴

Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Regulatory Factor 8 Deficiency ⁵⁹

Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Irf8 Deficiency ⁵⁹

Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant ⁵⁷

Autosomal Dominant Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency ⁷⁴

Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency ⁵⁹

Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant ⁵⁷

Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis ⁷⁴

Irf8 Deficiency, Autosomal Dominant ⁵⁷

Msmd Due to Partial Irf8 Deficiency ⁵⁹

Autosomal Dominant Irf8 Deficiency ⁷⁴

Characteristics:

Orphanet epidemiological data:

⁵⁹

mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients have been reported (last curated september 2013)

HPO:

³²

immunodeficiency 32a:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Other specified immunodeficiencies

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 614893 PS300755

MeSH ⁴⁴ D007153

ICD10 via Orphanet ³⁴ D84.8

Orphanet ⁵⁹ ORPHA319600

MedGen ⁴² C3808589 CN178080

UMLS ⁷² C3808589

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Summaries for Immunodeficiency 32a

OMIM : ⁵⁷ Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011). (614893)

MalaCards based summary : Immunodeficiency 32a, also known as imd32a, is related to immunodeficiency 32b. An important gene associated with Immunodeficiency 32a is IRF8 (Interferon Regulatory Factor 8). Affiliated tissues include myeloid, and related phenotypes are fever and abnormality of immune system physiology

UniProtKB/Swiss-Prot : ⁷⁴ Immunodeficiency 32A: An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections.

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Related Diseases for Immunodeficiency 32a

Diseases related to Immunodeficiency 32a via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency 32b	9.2	MIR6774 IRF8

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Symptoms & Phenotypes for Immunodeficiency 32a

Human phenotypes related to Immunodeficiency 32a:

⁵⁹ ³²

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	fever ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001945
2	abnormality of immune system physiology ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010978
3	lymphadenopathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002716
4	immunodeficiency ³²			HP:0002721
5	recurrent infections ³²			HP:0002719

Symptoms via clinical synopsis from OMIM:

⁵⁷

Immunology:
primary immunodeficiency
recurrent infections (disseminated mycobacterial infection after bcg immunization)
loss of il-12-producing circulating cd11c+/cd1c+ myeloid dendritic cells

Clinical features from OMIM:

614893

Sources

Drugs & Therapeutics for Immunodeficiency 32a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 32a

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Genetic Tests for Immunodeficiency 32a

Genetic tests related to Immunodeficiency 32a:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 32a ²⁹	IRF8

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Anatomical Context for Immunodeficiency 32a

MalaCards organs/tissues related to Immunodeficiency 32a:

⁴¹

Myeloid

Sources

Publications for Immunodeficiency 32a

Articles related to Immunodeficiency 32a:

#	Title	Authors	PMID	Year
1	IRF8 mutations and human dendritic-cell immunodeficiency. ⁸ ⁷¹	Hambleton S...Gros P	21524210	2011
2	CRISPLD2: a novel NSCLP candidate gene. ⁸	Chiquet BT...Hecht JT	17616516	2007
3	Genetic determinants of susceptibility to Mycobacterial infections: IRF8, a new kid on the block. ³⁸	Salem S...Gros P	23468103	2013

Sources

Genes for Immunodeficiency 32a

Genes related to Immunodeficiency 32a (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IRF8	Interferon Regulatory Factor 8	Protein Coding	1678.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21524210
2	MIR6774	MicroRNA 6774	RNA Gene	8.28	GeneCards inferred via : Variants (show sections)

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Variations for Immunodeficiency 32a

ClinVar genetic disease variations for Immunodeficiency 32a:

⁶ (show all 37)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	IRF8	NM_002163.4(IRF8): c.238A> G (p.Thr80Ala)	single nucleotide variant	Pathogenic	rs397514711	16:85942659-85942659	16:85909053-85909053
2	IRF8	NM_002163.4(IRF8): c.982T> G (p.Phe328Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs202046728	16:85952403-85952403	16:85918797-85918797
3	IRF8	NM_002163.4(IRF8): c.602C> T (p.Ala201Val)	single nucleotide variant	Uncertain significance	rs144424711	16:85952023-85952023	16:85918417-85918417
4	IRF8	NM_002163.4(IRF8): c.419G> A (p.Arg140His)	single nucleotide variant	Uncertain significance	rs372863612	16:85945236-85945236	16:85911630-85911630
5	IRF8	NM_002163.4(IRF8): c.406A> G (p.Met136Val)	single nucleotide variant	Uncertain significance	rs1555509293	16:85945223-85945223	16:85911617-85911617
6	IRF8	NM_002163.4(IRF8): c.859G> A (p.Val287Met)	single nucleotide variant	Uncertain significance	rs28368114	16:85952280-85952280	16:85918674-85918674
7	IRF8	NM_002163.4(IRF8): c.1030G> A (p.Gly344Ser)	single nucleotide variant	Uncertain significance	rs36085113	16:85953756-85953756	16:85920150-85920150
8	IRF8	NM_002163.4(IRF8): c.1167_1168TG[1] (p.Val390fs)	short repeat	Uncertain significance	rs1555510153	16:85954776-85954777	16:85921170-85921171
9	IRF8	NM_002163.4(IRF8): c.414C> G (p.Cys138Trp)	single nucleotide variant	Uncertain significance	rs8052064	16:85945231-85945231	16:85911625-85911625
10	IRF8	NM_002163.4(IRF8): c.682C> T (p.Arg228Cys)	single nucleotide variant	Uncertain significance		16:85952103-85952103	16:85918497-85918497
11	IRF8	NM_002163.4(IRF8): c.1081C> T (p.Arg361Cys)	single nucleotide variant	Uncertain significance		16:85953807-85953807	16:85920201-85920201
12	IRF8	NM_002163.4(IRF8): c.1279dup (p.Ter427LeuextTer?)	duplication	Uncertain significance		16:85954886-85954886	16:85921280-85921280
13	IRF8	NM_002163.4(IRF8): c.1131G> A (p.Leu377=)	single nucleotide variant	Uncertain significance		16:85954738-85954738	16:85921132-85921132
14	IRF8	NM_002163.4(IRF8): c.1184A> C (p.Glu395Ala)	single nucleotide variant	Uncertain significance		16:85954791-85954791	16:85921185-85921185
15	IRF8	NM_002163.4(IRF8): c.1104G> A (p.Gln368=)	single nucleotide variant	Uncertain significance		16:85953830-85953830	16:85920224-85920224
16	IRF8	NM_002163.4(IRF8): c.184G> A (p.Val62Ile)	single nucleotide variant	Uncertain significance		16:85942605-85942605	16:85908999-85908999
17	IRF8	NM_002163.4(IRF8): c.508C> G (p.Arg170Gly)	single nucleotide variant	Uncertain significance		16:85946797-85946797	16:85913191-85913191
18	IRF8	NM_002163.4(IRF8): c.780C> T (p.Ser260=)	single nucleotide variant	Uncertain significance		16:85952201-85952201	16:85918595-85918595
19	IRF8	NM_002163.4(IRF8): c.1093A> G (p.Ile365Val)	single nucleotide variant	Uncertain significance		16:85953819-85953819	16:85920213-85920213
20	IRF8	NM_002163.4(IRF8): c.1189C> A (p.Pro397Thr)	single nucleotide variant	Uncertain significance		16:85954796-85954796	16:85921190-85921190
21	IRF8	NM_002163.4(IRF8): c.554-5T> G	single nucleotide variant	Uncertain significance		16:85948074-85948074	16:85914468-85914468
22	IRF8	NM_002163.4(IRF8): c.601+6G> C	single nucleotide variant	Uncertain significance	rs369859766	16:85948132-85948132	16:85914526-85914526
23	IRF8	NM_002163.4(IRF8): c.1161C> T (p.Ala387=)	single nucleotide variant	Likely benign	rs183121597	16:85954768-85954768	16:85921162-85921162
24	IRF8	NM_002163.4(IRF8): c.1104+8T> G	single nucleotide variant	Likely benign	rs749015309	16:85953838-85953838	16:85920232-85920232
25	IRF8	NM_002163.4(IRF8): c.370G> A (p.Val124Met)	single nucleotide variant	Likely benign	rs138854374	16:85945187-85945187	16:85911581-85911581
26	IRF8	NM_002163.4(IRF8): c.1104+7dup	duplication	Likely benign	rs749942363	16:85953837-85953837	16:85920231-85920231
27	IRF8	NM_002163.4(IRF8): c.724T> C (p.Tyr242His)	single nucleotide variant	Likely benign	rs142267779	16:85952145-85952145	16:85918539-85918539
28	IRF8	NM_002163.4(IRF8): c.672C> T (p.Pro224=)	single nucleotide variant	Benign	rs57770209	16:85952093-85952093	16:85918487-85918487
29	IRF8	NM_002163.4(IRF8): c.300A> G (p.Gln100=)	single nucleotide variant	Benign	rs11545564	16:85942721-85942721	16:85909115-85909115
30	IRF8	NM_002163.4(IRF8): c.1275C> T (p.Thr425=)	single nucleotide variant	Benign	rs147057451	16:85954882-85954882	16:85921276-85921276
31	IRF8	NM_002163.4(IRF8): c.432C> T (p.Asp144=)	single nucleotide variant	Benign	rs16939945	16:85945249-85945249	16:85911643-85911643
32	IRF8	NM_002163.4(IRF8): c.1194G> A (p.Pro398=)	single nucleotide variant	Benign	rs2270503	16:85954801-85954801	16:85921195-85921195
33	IRF8	NM_002163.4(IRF8): c.1236A> G (p.Ser412=)	single nucleotide variant	Benign	rs16940012	16:85954843-85954843	16:85921237-85921237
34	IRF8	NM_002163.4(IRF8): c.387C> T (p.Cys129=)	single nucleotide variant	Benign	rs16939941	16:85945204-85945204	16:85911598-85911598
35	IRF8	NM_002163.4(IRF8): c.894C> T (p.Phe298=)	single nucleotide variant	Benign	rs61995933	16:85952315-85952315	16:85918709-85918709
36	IRF8	NM_002163.4(IRF8): c.495G> T (p.Pro165=)	single nucleotide variant	Benign	rs532341216	16:85946784-85946784	16:85913178-85913178
37	IRF8	NM_002163.4(IRF8): c.813C> T (p.Phe271=)	single nucleotide variant	Benign	rs147080359	16:85952234-85952234	16:85918628-85918628

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 32a:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	IRF8	p.Thr80Ala	VAR_070084	rs397514711

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Expression for Immunodeficiency 32a

Search GEO for disease gene expression data for Immunodeficiency 32a.

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Pathways for Immunodeficiency 32a

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GO Terms for Immunodeficiency 32a

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Sources for Immunodeficiency 32a

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Immunodeficiency 32a (IMD32A)

Aliases & Classifications for Immunodeficiency 32a

MalaCards integrated aliases for Immunodeficiency 32a:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 32a

Related Diseases for Immunodeficiency 32a

Diseases related to Immunodeficiency 32a via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Immunodeficiency 32a

Human phenotypes related to Immunodeficiency 32a:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Immunodeficiency 32a

Genetic Tests for Immunodeficiency 32a

Genetic tests related to Immunodeficiency 32a:

Anatomical Context for Immunodeficiency 32a

MalaCards organs/tissues related to Immunodeficiency 32a:

Publications for Immunodeficiency 32a

Articles related to Immunodeficiency 32a:

Genes for Immunodeficiency 32a

Genes related to Immunodeficiency 32a (1 elite genes):

Variations for Immunodeficiency 32a

ClinVar genetic disease variations for Immunodeficiency 32a:

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 32a:

Expression for Immunodeficiency 32a

Pathways for Immunodeficiency 32a

GO Terms for Immunodeficiency 32a

Sources for Immunodeficiency 32a