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

MCID: IMM183 MIFTS: 21	Immunodeficiency 32a Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Immunodeficiency 32a

MalaCards integrated aliases for Immunodeficiency 32a:

Name: Immunodeficiency 32a ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Imd32a ⁵⁷ ⁷⁵

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 ⁷⁵

Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency ⁵⁹

Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant ⁵⁷

Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis ⁷⁵

Irf8 Deficiency, Autosomal Dominant ⁵⁷

Msmd Due to Partial Irf8 Deficiency ⁵⁹

Autosomal Dominant Irf8 Deficiency ⁷⁵

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

Orphanet ⁵⁹ ORPHA319600

ICD10 via Orphanet ³⁴ D84.8

MedGen ⁴² C3808589 CN178080

MeSH ⁴⁴ D007153

SNOMED-CT via HPO ⁶⁹ 263681008 386661006 50177009 more

UMLS ⁷³ 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 lymphadenopathy

UniProtKB/Swiss-Prot : ⁷⁵ 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	9.0	IRF8 MIR6774

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Symptoms & Phenotypes for Immunodeficiency 32a

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

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	lymphadenopathy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002716
3	abnormality of immune system physiology ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010978
4	recurrent infections ³²			HP:0002719
5	immunodeficiency ³²			HP:0002721

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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:

⁴¹

Myeloid

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Publications for Immunodeficiency 32a

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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	1677.93	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21524210
2	MIR6774	MicroRNA 6774	RNA Gene	7.7	GeneCards inferred via : Variants (show sections)

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Variations for Immunodeficiency 32a

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

⁷⁵

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

ClinVar genetic disease variations for Immunodeficiency 32a:

⁶

(show all 48)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IRF8	NM_002163.2(IRF8): c.238A> G (p.Thr80Ala)	single nucleotide variant	Pathogenic	rs397514711	GRCh37	Chromosome 16, 85942659: 85942659
2	IRF8	NM_002163.2(IRF8): c.238A> G (p.Thr80Ala)	single nucleotide variant	Pathogenic	rs397514711	GRCh38	Chromosome 16, 85909053: 85909053
3	IRF8	NM_002163.2(IRF8): c.300A> G (p.Gln100=)	single nucleotide variant	Benign	rs11545564	GRCh38	Chromosome 16, 85909115: 85909115
4	IRF8	NM_002163.2(IRF8): c.300A> G (p.Gln100=)	single nucleotide variant	Benign	rs11545564	GRCh37	Chromosome 16, 85942721: 85942721
5	IRF8	NM_002163.2(IRF8): c.1275C> T (p.Thr425=)	single nucleotide variant	Benign	rs147057451	GRCh38	Chromosome 16, 85921276: 85921276
6	IRF8	NM_002163.2(IRF8): c.1275C> T (p.Thr425=)	single nucleotide variant	Benign	rs147057451	GRCh37	Chromosome 16, 85954882: 85954882
7	IRF8	NM_002163.2(IRF8): c.432C> T (p.Asp144=)	single nucleotide variant	Benign	rs16939945	GRCh37	Chromosome 16, 85945249: 85945249
8	IRF8	NM_002163.2(IRF8): c.432C> T (p.Asp144=)	single nucleotide variant	Benign	rs16939945	GRCh38	Chromosome 16, 85911643: 85911643
9	IRF8	NM_002163.2(IRF8): c.1194G> A (p.Pro398=)	single nucleotide variant	Benign	rs2270503	GRCh37	Chromosome 16, 85954801: 85954801
10	IRF8	NM_002163.2(IRF8): c.1194G> A (p.Pro398=)	single nucleotide variant	Benign	rs2270503	GRCh38	Chromosome 16, 85921195: 85921195
11	IRF8	NM_002163.2(IRF8): c.1236A> G (p.Ser412=)	single nucleotide variant	Benign	rs16940012	GRCh37	Chromosome 16, 85954843: 85954843
12	IRF8	NM_002163.2(IRF8): c.1236A> G (p.Ser412=)	single nucleotide variant	Benign	rs16940012	GRCh38	Chromosome 16, 85921237: 85921237
13	IRF8	NM_002163.2(IRF8): c.387C> T (p.Cys129=)	single nucleotide variant	Benign	rs16939941	GRCh38	Chromosome 16, 85911598: 85911598
14	IRF8	NM_002163.2(IRF8): c.387C> T (p.Cys129=)	single nucleotide variant	Benign	rs16939941	GRCh37	Chromosome 16, 85945204: 85945204
15	IRF8	NM_002163.2(IRF8): c.602C> T (p.Ala201Val)	single nucleotide variant	Uncertain significance	rs144424711	GRCh38	Chromosome 16, 85918417: 85918417
16	IRF8	NM_002163.2(IRF8): c.602C> T (p.Ala201Val)	single nucleotide variant	Uncertain significance	rs144424711	GRCh37	Chromosome 16, 85952023: 85952023
17	IRF8	NM_002163.2(IRF8): c.672C> T (p.Pro224=)	single nucleotide variant	Benign	rs57770209	GRCh38	Chromosome 16, 85918487: 85918487
18	IRF8	NM_002163.2(IRF8): c.672C> T (p.Pro224=)	single nucleotide variant	Benign	rs57770209	GRCh37	Chromosome 16, 85952093: 85952093
19	IRF8	NM_002163.2(IRF8): c.982T> G (p.Phe328Val)	single nucleotide variant	Likely benign	rs202046728	GRCh37	Chromosome 16, 85952403: 85952403
20	IRF8	NM_002163.2(IRF8): c.982T> G (p.Phe328Val)	single nucleotide variant	Likely benign	rs202046728	GRCh38	Chromosome 16, 85918797: 85918797
21	IRF8	NM_002163.2(IRF8): c.724T> C (p.Tyr242His)	single nucleotide variant	Likely benign	rs142267779	GRCh37	Chromosome 16, 85952145: 85952145
22	IRF8	NM_002163.2(IRF8): c.724T> C (p.Tyr242His)	single nucleotide variant	Likely benign	rs142267779	GRCh38	Chromosome 16, 85918539: 85918539
23	IRF8	NM_002163.2(IRF8): c.406A> G (p.Met136Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 16, 85945223: 85945223
24	IRF8	NM_002163.2(IRF8): c.406A> G (p.Met136Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 16, 85911617: 85911617
25	IRF8	NM_002163.2(IRF8): c.859G> A (p.Val287Met)	single nucleotide variant	Uncertain significance	rs28368114	GRCh37	Chromosome 16, 85952280: 85952280
26	IRF8	NM_002163.2(IRF8): c.859G> A (p.Val287Met)	single nucleotide variant	Uncertain significance	rs28368114	GRCh38	Chromosome 16, 85918674: 85918674
27	IRF8	NM_002163.2(IRF8): c.894C> T (p.Phe298=)	single nucleotide variant	Benign	rs61995933	GRCh37	Chromosome 16, 85952315: 85952315
28	IRF8	NM_002163.2(IRF8): c.894C> T (p.Phe298=)	single nucleotide variant	Benign	rs61995933	GRCh38	Chromosome 16, 85918709: 85918709
29	IRF8	NM_002163.2(IRF8): c.1030G> A (p.Gly344Ser)	single nucleotide variant	Uncertain significance	rs36085113	GRCh37	Chromosome 16, 85953756: 85953756
30	IRF8	NM_002163.2(IRF8): c.1030G> A (p.Gly344Ser)	single nucleotide variant	Uncertain significance	rs36085113	GRCh38	Chromosome 16, 85920150: 85920150
31	IRF8	NM_002163.2(IRF8): c.1104+7dup	duplication	Likely benign		GRCh37	Chromosome 16, 85953837: 85953837
32	IRF8	NM_002163.2(IRF8): c.1104+7dup	duplication	Likely benign		GRCh38	Chromosome 16, 85920231: 85920231
33	IRF8	NM_002163.2(IRF8): c.1169_1170delTG (p.Val390Aspfs)	deletion	Uncertain significance		GRCh37	Chromosome 16, 85954776: 85954777
34	IRF8	NM_002163.2(IRF8): c.1169_1170delTG (p.Val390Aspfs)	deletion	Uncertain significance		GRCh38	Chromosome 16, 85921170: 85921171
35	IRF8	NM_002163.2(IRF8): c.370G> A (p.Val124Met)	single nucleotide variant	Likely benign	rs138854374	GRCh38	Chromosome 16, 85911581: 85911581
36	IRF8	NM_002163.2(IRF8): c.370G> A (p.Val124Met)	single nucleotide variant	Likely benign	rs138854374	GRCh37	Chromosome 16, 85945187: 85945187
37	IRF8	NM_002163.2(IRF8): c.414C> G (p.Cys138Trp)	single nucleotide variant	Uncertain significance	rs8052064	GRCh38	Chromosome 16, 85911625: 85911625
38	IRF8	NM_002163.2(IRF8): c.414C> G (p.Cys138Trp)	single nucleotide variant	Uncertain significance	rs8052064	GRCh37	Chromosome 16, 85945231: 85945231
39	IRF8	NM_002163.2(IRF8): c.495G> T (p.Pro165=)	single nucleotide variant	Benign	rs532341216	GRCh38	Chromosome 16, 85913178: 85913178
40	IRF8	NM_002163.2(IRF8): c.495G> T (p.Pro165=)	single nucleotide variant	Benign	rs532341216	GRCh37	Chromosome 16, 85946784: 85946784
41	IRF8	NM_002163.2(IRF8): c.601+6G> C	single nucleotide variant	Uncertain significance	rs369859766	GRCh38	Chromosome 16, 85914526: 85914526
42	IRF8	NM_002163.2(IRF8): c.601+6G> C	single nucleotide variant	Uncertain significance	rs369859766	GRCh37	Chromosome 16, 85948132: 85948132
43	IRF8	NM_002163.2(IRF8): c.813C> T (p.Phe271=)	single nucleotide variant	Benign	rs147080359	GRCh37	Chromosome 16, 85952234: 85952234
44	IRF8	NM_002163.2(IRF8): c.813C> T (p.Phe271=)	single nucleotide variant	Benign	rs147080359	GRCh38	Chromosome 16, 85918628: 85918628
45	IRF8	NM_002163.2(IRF8): c.1161C> T (p.Ala387=)	single nucleotide variant	Likely benign	rs183121597	GRCh37	Chromosome 16, 85954768: 85954768
46	IRF8	NM_002163.2(IRF8): c.1161C> T (p.Ala387=)	single nucleotide variant	Likely benign	rs183121597	GRCh38	Chromosome 16, 85921162: 85921162
47	IRF8	NM_002163.2(IRF8): c.1104+8T> G	single nucleotide variant	Likely benign	rs749015309	GRCh38	Chromosome 16, 85920232: 85920232
48	IRF8	NM_002163.2(IRF8): c.1104+8T> G	single nucleotide variant	Likely benign	rs749015309	GRCh37	Chromosome 16, 85953838: 85953838

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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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