Immunodeficiency 27a disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM166 MIFTS: 22	Immunodeficiency 27a Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
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Aliases & Classifications for Immunodeficiency 27a

MalaCards integrated aliases for Immunodeficiency 27a:

Name: Immunodeficiency 27a ⁵⁷ ⁷⁵ ⁷³

Imd27a ⁵⁷ ⁷⁵

Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency ⁵⁹

Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency ⁵⁹

Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 1 Deficiency ⁵⁹

Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar1 Deficiency ⁵⁹

Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency ⁵⁹

Autosomal Recessive Msmd Due to Partial Ifngammar1 Deficiency ⁵⁹

Msmd Due to Complete Interferon Gamma Receptor 1 Deficiency ⁵⁹

Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive ⁵⁷

Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis ⁷⁵

Familial Disseminated Atypical Mycobacterial Infection ⁷⁵

Mycobacterial Disease, Mendelian Susceptibility to ⁷³

Immunodeficiency, Type 27a, Mycobacteriosis, Ar ⁴⁰

Msmd Due to Complete Ifngammar1 Deficiency ⁵⁹

Immunodeficiency 27a, Mycobacteriosis, Ar ⁵⁷

Mycobacterium Infections, Nontuberculous ⁴⁴

Ifngr1 Deficiency, Autosomal Recessive ⁵⁷

Autosomal Recessive Ifngr1 Deficiency ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of death: normal life expectancy;

mendelian susceptibility to mycobacterial diseases due to complete ifngammar1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
may be fatal
patients may develop disseminated disease after bcg vaccination
patients may respond well to treatment with gamma-interferon

HPO:

³²

immunodeficiency 27a:
Inheritance autosomal recessive 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 209950

Orphanet ⁵⁹ ORPHA319569 ORPHA99898

ICD10 via Orphanet ³⁴ D84.8

MESH via Orphanet ⁴⁵ C535530

UMLS via Orphanet ⁷⁴ C2930924

MedGen ⁴² C4011949 C0694566 C3266863

MeSH ⁴⁴ D009165

SNOMED-CT via HPO ⁶⁹ 258211005 191124002 34093004 more

UMLS ⁷³ C4011949 C4048456

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Summaries for Immunodeficiency 27a

OMIM : ⁵⁷ Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008). (209950)

MalaCards based summary : Immunodeficiency 27a, also known as imd27a, is related to immunodeficiency 34 and immunodeficiency 28. An important gene associated with Immunodeficiency 27a is IFNGR1 (Interferon Gamma Receptor 1). Related phenotypes are abnormality of abdomen morphology and abnormality of blood and blood-forming tissues

UniProtKB/Swiss-Prot : ⁷⁵ Immunodeficiency 27A: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas.

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Related Diseases for Immunodeficiency 27a

Diseases related to Immunodeficiency 27a via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	immunodeficiency 34	11.3
2	immunodeficiency 28	10.9
3	immunodeficiency 27b	10.9
4	atypical mycobacteriosis, familial	9.9

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Symptoms & Phenotypes for Immunodeficiency 27a

Symptoms via clinical synopsis from OMIM:

⁵⁷

Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to salmonella infections
poor or absent response to gamma-interferon

Clinical features from OMIM:

209950

Human phenotypes related to Immunodeficiency 27a:

³²

#	Description	HPO Source Accession
1	abnormality of abdomen morphology ³²	HP:0001438
2	abnormality of blood and blood-forming tissues ³²	HP:0001871
3	salmonella osteomyelitis ³²	HP:0005661

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Drugs & Therapeutics for Immunodeficiency 27a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 27a

Cochrane evidence based reviews: mycobacterium infections, nontuberculous

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Genetic Tests for Immunodeficiency 27a

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Anatomical Context for Immunodeficiency 27a

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Publications for Immunodeficiency 27a

Articles related to Immunodeficiency 27a:

#	Title	Authors	Year
1	Evidence for exclusion of a mutation in NRAMP as the cause of familial disseminated atypical mycobacterial infection in a Maltese kindred. ( 8592339 )	Newport M....Huxley C.	1995

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Genes for Immunodeficiency 27a

Genes related to Immunodeficiency 27a (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IFNGR1	Interferon Gamma Receptor 1	Protein Coding	1602.98	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	8960473 8960475 9389728 (more) 9142806 9497247 10811850 19880857

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Variations for Immunodeficiency 27a

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 27a:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	IFNGR1	p.Cys77Tyr	VAR_017577	rs104893974
2	IFNGR1	p.Ile87Thr	VAR_017578	rs104893973
3	IFNGR1	p.Ile37Thr	VAR_080059	rs945137618
4	IFNGR1	p.Val61Glu	VAR_080060	rs121912715
5	IFNGR1	p.Val63Gly	VAR_080062
6	IFNGR1	p.Tyr66Cys	VAR_080063
7	IFNGR1	p.Cys77Phe	VAR_080064
8	IFNGR1	p.Cys85Tyr	VAR_080065
9	IFNGR1	p.Gly219Arg	VAR_080071
10	IFNGR1	p.Ser485Phe	VAR_080076	rs752113778

ClinVar genetic disease variations for Immunodeficiency 27a:

⁶

(show top 50) (show all 54)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IFNGR1	NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter)	single nucleotide variant	Pathogenic	rs387906572	GRCh37	Chromosome 6, 137525569: 137525569
2	IFNGR1	NM_000416.2(IFNGR1): c.446C> A (p.Ser149Ter)	single nucleotide variant	Pathogenic	rs387906572	GRCh38	Chromosome 6, 137204432: 137204432
3	IFNGR1	NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs)	deletion	Pathogenic	rs587776853	GRCh38	Chromosome 6, 137207032: 137207032
4	IFNGR1	NM_000416.2(IFNGR1): c.131delC (p.Pro44Leufs)	deletion	Pathogenic	rs587776853	GRCh37	Chromosome 6, 137528169: 137528169
5	IFNGR1	NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr)	single nucleotide variant	Pathogenic,risk factor	rs104893973	GRCh37	Chromosome 6, 137527386: 137527386
6	IFNGR1	NM_000416.2(IFNGR1): c.260T> C (p.Ile87Thr)	single nucleotide variant	Pathogenic,risk factor	rs104893973	GRCh38	Chromosome 6, 137206249: 137206249
7	IFNGR1	NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs)	duplication	Pathogenic	rs587776854	GRCh38	Chromosome 6, 137207056: 137207059
8	IFNGR1	NM_000416.2(IFNGR1): c.104_107dupTTAC (p.Ile37Tyrfs)	duplication	Pathogenic	rs587776854	GRCh37	Chromosome 6, 137528193: 137528196
9	IFNGR1	NM_000416.2(IFNGR1): c.200+1G> A	single nucleotide variant	Pathogenic	rs587776855	GRCh38	Chromosome 6, 137206962: 137206962
10	IFNGR1	NM_000416.2(IFNGR1): c.200+1G> A	single nucleotide variant	Pathogenic	rs587776855	GRCh37	Chromosome 6, 137528099: 137528099
11	IFNGR1	NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del)	deletion	Pathogenic	rs587776857	GRCh38	Chromosome 6, 137206203: 137206214
12	IFNGR1	NM_000416.2(IFNGR1): c.295_306delTGGGTCAGAGTT (p.Trp99_Val102del)	deletion	Pathogenic	rs587776857	GRCh37	Chromosome 6, 137527340: 137527351
13	IFNGR1	NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr)	single nucleotide variant	Pathogenic	rs104893974	GRCh37	Chromosome 6, 137527416: 137527416
14	IFNGR1	NM_000416.2(IFNGR1): c.230G> A (p.Cys77Tyr)	single nucleotide variant	Pathogenic	rs104893974	GRCh38	Chromosome 6, 137206279: 137206279
15	IFNGR1	NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu)	single nucleotide variant	Pathogenic	rs121912715	GRCh37	Chromosome 6, 137528118: 137528118
16	IFNGR1	NM_000416.2(IFNGR1): c.182T> A (p.Val61Glu)	single nucleotide variant	Pathogenic	rs121912715	GRCh38	Chromosome 6, 137206981: 137206981
17	IFNGR1	NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del)	deletion	Pathogenic	rs587776858	GRCh38	Chromosome 6, 137203577: 137203579
18	IFNGR1	NM_000416.2(IFNGR1): c.653_655delAAG (p.Glu218del)	deletion	Pathogenic	rs587776858	GRCh37	Chromosome 6, 137524714: 137524716
19	IFNGR1	NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys)	single nucleotide variant	Pathogenic	rs387906593	GRCh37	Chromosome 6, 137540463: 137540463
20	IFNGR1	NM_000416.2(IFNGR1): c.2T> A (p.Met1Lys)	single nucleotide variant	Pathogenic	rs387906593	GRCh38	Chromosome 6, 137219326: 137219326
21	IFNGR1	NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs)	deletion	Pathogenic	rs749956849	GRCh37	Chromosome 6, 137525492: 137525492
22	IFNGR1	NM_000416.2(IFNGR1): c.523delT (p.Tyr175Metfs)	deletion	Pathogenic	rs749956849	GRCh38	Chromosome 6, 137204355: 137204355
23	IFNGR1	NM_000416.2(IFNGR1): c.48G> A (p.Arg16=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs11575931	GRCh37	Chromosome 6, 137540417: 137540417
24	IFNGR1	NM_000416.2(IFNGR1): c.48G> A (p.Arg16=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs11575931	GRCh38	Chromosome 6, 137219280: 137219280
25	IL12RB1	NM_005535.2(IL12RB1): c.467G> A (p.Arg156His)	single nucleotide variant	Benign/Likely benign	rs11575926	GRCh38	Chromosome 19, 18077598: 18077598
26	IL12RB1	NM_005535.2(IL12RB1): c.467G> A (p.Arg156His)	single nucleotide variant	Benign/Likely benign	rs11575926	GRCh37	Chromosome 19, 18188408: 18188408
27	IL12RB1	NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg)	single nucleotide variant	Benign/Likely benign	rs11575934	GRCh38	Chromosome 19, 18075808: 18075808
28	IL12RB1	NM_005535.2(IL12RB1): c.641A> G (p.Gln214Arg)	single nucleotide variant	Benign/Likely benign	rs11575934	GRCh37	Chromosome 19, 18186618: 18186618
29	IL12RB1	NM_005535.2(IL12RB1): c.783+10C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79972275	GRCh38	Chromosome 19, 18073507: 18073507
30	IL12RB1	NM_005535.2(IL12RB1): c.783+10C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs79972275	GRCh37	Chromosome 19, 18184317: 18184317
31	IFNGR1	NM_000416.2(IFNGR1): c.373+2T> C	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 6, 137527271: 137527271
32	IFNGR1	NM_000416.2(IFNGR1): c.373+2T> C	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 6, 137206134: 137206134
33	IFNGR1	NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp)	single nucleotide variant	Uncertain significance	rs555180897	GRCh37	Chromosome 6, 137528200: 137528200
34	IFNGR1	NM_000416.2(IFNGR1): c.100A> G (p.Asn34Asp)	single nucleotide variant	Uncertain significance	rs555180897	GRCh38	Chromosome 6, 137207063: 137207063
35	IL12RB1	NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=)	single nucleotide variant	Likely benign	rs17885102	GRCh38	Chromosome 19, 18061194: 18061194
36	IL12RB1	NM_001290024.1(IL12RB1): c.1839C> T (p.Ala613=)	single nucleotide variant	Likely benign	rs17885102	GRCh37	Chromosome 19, 18172004: 18172004
37	IFNGR2	NM_005534.3(IFNGR2): c.595T> C (p.Leu199=)	single nucleotide variant	Likely benign	rs149173957	GRCh38	Chromosome 21, 33432210: 33432210
38	IFNGR2	NM_005534.3(IFNGR2): c.595T> C (p.Leu199=)	single nucleotide variant	Likely benign	rs149173957	GRCh37	Chromosome 21, 34804517: 34804517
39	IFNGR1	NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 6, 137204451: 137204451
40	IFNGR1	NM_000416.2(IFNGR1): c.427A> T (p.Ile143Phe)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 6, 137525588: 137525588
41	IFNGR1	NM_000416.2(IFNGR1): c.201-12_201-9delTATT	deletion	Likely benign		GRCh38	Chromosome 6, 137206317: 137206320
42	IFNGR1	NM_000416.2(IFNGR1): c.201-12_201-9delTATT	deletion	Likely benign		GRCh37	Chromosome 6, 137527454: 137527457
43	IFNGR1	NM_000416.2(IFNGR1): c.181G> A (p.Val61Ile)	single nucleotide variant	Benign	rs17175322	GRCh38	Chromosome 6, 137206982: 137206982
44	IFNGR1	NM_000416.2(IFNGR1): c.181G> A (p.Val61Ile)	single nucleotide variant	Benign	rs17175322	GRCh37	Chromosome 6, 137528119: 137528119
45	IFNGR1	NM_000416.2(IFNGR1): c.1341C> T (p.Thr447=)	single nucleotide variant	Benign	rs41288979	GRCh37	Chromosome 6, 137519297: 137519297
46	IFNGR1	NM_000416.2(IFNGR1): c.1341C> T (p.Thr447=)	single nucleotide variant	Benign	rs41288979	GRCh38	Chromosome 6, 137198160: 137198160
47	IFNGR1	NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=)	single nucleotide variant	Likely benign	rs144715018	GRCh37	Chromosome 6, 137519402: 137519402
48	IFNGR1	NM_000416.2(IFNGR1): c.1236T> C (p.Phe412=)	single nucleotide variant	Likely benign	rs144715018	GRCh38	Chromosome 6, 137198265: 137198265
49	IFNGR1	NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 6, 137198630: 137198630
50	IFNGR1	NM_000416.2(IFNGR1): c.871G> T (p.Val291Leu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 6, 137519767: 137519767

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Expression for Immunodeficiency 27a

Search GEO for disease gene expression data for Immunodeficiency 27a.

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Pathways for Immunodeficiency 27a

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GO Terms for Immunodeficiency 27a

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Sources for Immunodeficiency 27a

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