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 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Imd32a ⁵⁶ ⁷³

Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Regulatory Factor 8 Deficiency ⁵⁸

Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Irf8 Deficiency ⁵⁸

Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant ⁵⁶

Autosomal Dominant Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency ⁷³

Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency ⁵⁸

Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant ⁵⁶

Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis ⁷³

Irf8 Deficiency, Autosomal Dominant ⁵⁶

Msmd Due to Partial Irf8 Deficiency ⁵⁸

Autosomal Dominant Irf8 Deficiency ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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:

⁵⁶

Inheritance:
autosomal dominant

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

HPO:

³¹

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: ³³

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: ⁵⁸

Rare immunological diseases

External Ids:

OMIM ⁵⁶ 614893

OMIM Phenotypic Series ⁵⁶ PS300755

MeSH ⁴³ D007153

ICD10 via Orphanet ³³ D84.8

Orphanet ⁵⁸ ORPHA319600

MedGen ⁴¹ C3808589 CN178080

SNOMED-CT via HPO ⁶⁸ 234532001 263681008 30746006 more

UMLS ⁷¹ C3808589

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Summaries for Immunodeficiency 32a

OMIM : ⁵⁶ 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, is also known as imd32a. 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 : ⁷³ 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

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Symptoms & Phenotypes for Immunodeficiency 32a

Human phenotypes related to Immunodeficiency 32a:

⁵⁸ ³¹

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	fever ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001945
2	abnormality of immune system physiology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010978
3	lymphadenopathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002716
4	immunodeficiency ³¹			HP:0002721
5	recurrent infections ³¹			HP:0002719

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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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:

⁴⁰

Myeloid

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Publications for Immunodeficiency 32a

Articles related to Immunodeficiency 32a:

#	Title	Authors	PMID	Year
1	IRF8 mutations and human dendritic-cell immunodeficiency. ⁵⁶ ⁶	Hambleton S...Gros P	21524210	2011
2	CRISPLD2: a novel NSCLP candidate gene. ⁵⁶	Chiquet BT...Hecht JT	17616516	2007
3	Genetic determinants of susceptibility to Mycobacterial infections: IRF8, a new kid on the block. ⁶¹	Salem S...Gros P	23468103	2013

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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	1668.36	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21524210

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Variations for Immunodeficiency 32a

ClinVar genetic disease variations for Immunodeficiency 32a:

⁶ (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IRF8	NM_002163.4(IRF8):c.238A>G (p.Thr80Ala)	SNV	Pathogenic	56843	rs397514711	16:85942659-85942659	16:85909053-85909053
2	IRF8	NM_002163.4(IRF8):c.419G>A (p.Arg140His)	SNV	Uncertain significance	424036	rs372863612	16:85945236-85945236	16:85911630-85911630
3	IRF8	NM_002163.4(IRF8):c.602C>T (p.Ala201Val)	SNV	Uncertain significance	475393	rs144424711	16:85952023-85952023	16:85918417-85918417
4	IRF8	NM_002163.4(IRF8):c.406A>G (p.Met136Val)	SNV	Uncertain significance	542143	rs1555509293	16:85945223-85945223	16:85911617-85911617
5	IRF8	NM_002163.4(IRF8):c.859G>A (p.Val287Met)	SNV	Uncertain significance	542144	rs28368114	16:85952280-85952280	16:85918674-85918674
6	IRF8	NM_002163.4(IRF8):c.1030G>A (p.Gly344Ser)	SNV	Uncertain significance	542145	rs36085113	16:85953756-85953756	16:85920150-85920150
7	IRF8	NM_002163.4(IRF8):c.1167_1168TG[1] (p.Val390fs)	short repeat	Uncertain significance	542146	rs1555510153	16:85954774-85954775	16:85921168-85921169
8	IRF8	NM_002163.4(IRF8):c.414C>G (p.Cys138Trp)	SNV	Uncertain significance	542142	rs8052064	16:85945231-85945231	16:85911625-85911625
9	IRF8	NM_002163.4(IRF8):c.601+6G>C	SNV	Uncertain significance	542153	rs369859766	16:85948132-85948132	16:85914526-85914526
10	IRF8	NM_002163.4(IRF8):c.682C>T (p.Arg228Cys)	SNV	Uncertain significance	565526	rs148746145	16:85952103-85952103	16:85918497-85918497
11	IRF8	NM_002163.4(IRF8):c.1081C>T (p.Arg361Cys)	SNV	Uncertain significance	568546	rs771773479	16:85953807-85953807	16:85920201-85920201
12	IRF8	NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)	duplication	Uncertain significance	583095	rs1567479117	16:85954885-85954886	16:85921279-85921280
13	IRF8	NM_002163.4(IRF8):c.1131G>A (p.Leu377=)	SNV	Uncertain significance	571600	rs141548724	16:85954738-85954738	16:85921132-85921132
14	IRF8	NM_002163.4(IRF8):c.1184A>C (p.Glu395Ala)	SNV	Uncertain significance	579269	rs1567479042	16:85954791-85954791	16:85921185-85921185
15	IRF8	NM_002163.4(IRF8):c.1104G>A (p.Gln368=)	SNV	Uncertain significance	623891	rs377181003	16:85953830-85953830	16:85920224-85920224
16	IRF8	NM_002163.4(IRF8):c.184G>A (p.Val62Ile)	SNV	Uncertain significance	661293		16:85942605-85942605	16:85908999-85908999
17	IRF8	NM_002163.4(IRF8):c.508C>G (p.Arg170Gly)	SNV	Uncertain significance	645748		16:85946797-85946797	16:85913191-85913191
18	IRF8	NM_002163.4(IRF8):c.780C>T (p.Ser260=)	SNV	Uncertain significance	646032		16:85952201-85952201	16:85918595-85918595
19	IRF8	NM_002163.4(IRF8):c.1093A>G (p.Ile365Val)	SNV	Uncertain significance	665990		16:85953819-85953819	16:85920213-85920213
20	IRF8	NM_002163.4(IRF8):c.1189C>A (p.Pro397Thr)	SNV	Uncertain significance	643778		16:85954796-85954796	16:85921190-85921190
21	IRF8	NM_002163.4(IRF8):c.554-5T>G	SNV	Uncertain significance	642755		16:85948074-85948074	16:85914468-85914468
22	IRF8	NM_002163.4(IRF8):c.300A>G (p.Gln100=)	SNV	Benign	475389	rs11545564	16:85942721-85942721	16:85909115-85909115
23	IRF8	NM_002163.4(IRF8):c.432C>T (p.Asp144=)	SNV	Benign	475391	rs16939945	16:85945249-85945249	16:85911643-85911643
24	IRF8	NM_002163.4(IRF8):c.1194G>A (p.Pro398=)	SNV	Benign	475386	rs2270503	16:85954801-85954801	16:85921195-85921195

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

⁷³

#	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

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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