IMD28
MCID: IMM180
MIFTS: 22

Immunodeficiency 28 (IMD28)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 28

MalaCards integrated aliases for Immunodeficiency 28:

Name: Immunodeficiency 28 57 75 29 6 73
Immunodeficiency 28, Mycobacteriosis 57 75
Ifngr2 Deficiency 57 75
Imd28 57 75
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 2 Deficiency 59
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 2 Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar2 Deficiency 59
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 2 Deficiency 59
Autosomal Recessive Msmd Due to Partial Ifngammar2 Deficiency 59
Msmd Due to Complete Interferon Gamma Receptor 2 Deficiency 59
Msmd Due to Complete Ifngammar2 Deficiency 59
Immunodeficiency, Type 28, Mycobacteriosis 40

Characteristics:

Orphanet epidemiological data:

59
mendelian susceptibility to mycobacterial diseases due to complete ifngammar2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
patients may develop disseminated disease after bcg vaccination


HPO:

32
immunodeficiency 28:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 614889
ICD10 via Orphanet 34 D84.8
SNOMED-CT via HPO 69 258211005 234532001
UMLS 73 C4013947

Summaries for Immunodeficiency 28

UniProtKB/Swiss-Prot : 75 Immunodeficiency 28: 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. IMD28 manifests early in life, with severe, often fatal, infection.

MalaCards based summary : Immunodeficiency 28, is also known as immunodeficiency 28, mycobacteriosis. An important gene associated with Immunodeficiency 28 is IFNGR2 (Interferon Gamma Receptor 2). Related phenotypes are immunodeficiency and recurrent mycobacterial infections

OMIM : 57 IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A; 209950). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG; 147570). There is also a rare, partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008). (614889)

Related Diseases for Immunodeficiency 28

Symptoms & Phenotypes for Immunodeficiency 28

Symptoms via clinical synopsis from OMIM:

57
Immunology:
increased susceptibility to mycobacterial infections
poor or absent response to gamma-interferon


Clinical features from OMIM:

614889

Human phenotypes related to Immunodeficiency 28:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent mycobacterial infections 32 HP:0011274

Drugs & Therapeutics for Immunodeficiency 28

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 28

Genetic Tests for Immunodeficiency 28

Genetic tests related to Immunodeficiency 28:

# Genetic test Affiliating Genes
1 Immunodeficiency 28 29 IFNGR2

Anatomical Context for Immunodeficiency 28

Publications for Immunodeficiency 28

Variations for Immunodeficiency 28

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 28:

75
# Symbol AA change Variation ID SNP ID
1 IFNGR2 p.Thr168Asn VAR_023281 rs74315444
2 IFNGR2 p.Arg114Cys VAR_075305
3 IFNGR2 p.Ser124Phe VAR_075306
4 IFNGR2 p.Gly141Arg VAR_075307
5 IFNGR2 p.Gly227Arg VAR_075308

ClinVar genetic disease variations for Immunodeficiency 28:

6 (show all 43)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFNGR2 NM_005534.3(IFNGR2): c.663_689del27 (p.Phe224_Ile232del) deletion Pathogenic rs587776823 GRCh38 Chromosome 21, 33432278: 33432304
2 IFNGR2 NM_005534.3(IFNGR2): c.278_279delAG (p.Glu93Valfs) deletion Pathogenic rs587776822 GRCh38 Chromosome 21, 33421551: 33421552
3 IFNGR2 NM_005534.3(IFNGR2): c.278_279delAG (p.Glu93Valfs) deletion Pathogenic rs587776822 GRCh37 Chromosome 21, 34793858: 34793859
4 IFNGR2 NM_005534.3(IFNGR2): c.503C> A (p.Thr168Asn) single nucleotide variant Pathogenic rs74315444 GRCh37 Chromosome 21, 34799281: 34799281
5 IFNGR2 NM_005534.3(IFNGR2): c.503C> A (p.Thr168Asn) single nucleotide variant Pathogenic rs74315444 GRCh38 Chromosome 21, 33426974: 33426974
6 IFNGR2 NM_005534.3(IFNGR2): c.663_689del27 (p.Phe224_Ile232del) deletion Pathogenic rs587776823 GRCh37 Chromosome 21, 34804585: 34804611
7 IFNGR2 NM_005534.3(IFNGR2): c.173C> G (p.Thr58Arg) single nucleotide variant Benign rs4986958 GRCh37 Chromosome 21, 34787294: 34787294
8 IFNGR2 NM_005534.3(IFNGR2): c.173C> G (p.Thr58Arg) single nucleotide variant Benign rs4986958 GRCh38 Chromosome 21, 33414987: 33414987
9 IFNGR2 NM_005534.3(IFNGR2): c.382_387dupACAATG (p.Met129_Pro130insThrMet) duplication Pathogenic rs398122890 GRCh37 Chromosome 21, 34793962: 34793967
10 IFNGR2 NM_005534.3(IFNGR2): c.382_387dupACAATG (p.Met129_Pro130insThrMet) duplication Pathogenic rs398122890 GRCh38 Chromosome 21, 33421655: 33421660
11 IFNGR2 NM_005534.3(IFNGR2): c.984G> A (p.Lys328=) single nucleotide variant Benign rs121913220 GRCh37 Chromosome 21, 34809239: 34809239
12 IFNGR2 NM_005534.3(IFNGR2): c.984G> A (p.Lys328=) single nucleotide variant Benign rs121913220 GRCh38 Chromosome 21, 33436932: 33436932
13 IFNGR2 NM_005534.3(IFNGR2): c.544A> G (p.Lys182Glu) single nucleotide variant Benign/Likely benign rs17878711 GRCh37 Chromosome 21, 34799322: 34799322
14 IFNGR2 NM_005534.3(IFNGR2): c.544A> G (p.Lys182Glu) single nucleotide variant Benign/Likely benign rs17878711 GRCh38 Chromosome 21, 33427015: 33427015
15 IFNGR2 NM_005534.3(IFNGR2): c.37C> T (p.Leu13Phe) single nucleotide variant Uncertain significance rs1012938610 GRCh38 Chromosome 21, 33403580: 33403580
16 IFNGR2 NM_005534.3(IFNGR2): c.37C> T (p.Leu13Phe) single nucleotide variant Uncertain significance rs1012938610 GRCh37 Chromosome 21, 34775886: 34775886
17 IFNGR2 NM_005534.3(IFNGR2): c.978G> A (p.Pro326=) single nucleotide variant Benign rs17885407 GRCh38 Chromosome 21, 33436926: 33436926
18 IFNGR2 NM_005534.3(IFNGR2): c.978G> A (p.Pro326=) single nucleotide variant Benign rs17885407 GRCh37 Chromosome 21, 34809233: 34809233
19 IFNGR2 NM_005534.3(IFNGR2): c.65C> T (p.Ala22Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34775914: 34775914
20 IFNGR2 NM_005534.3(IFNGR2): c.65C> T (p.Ala22Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 33403608: 33403608
21 IFNGR2 NM_005534.3(IFNGR2): c.721+7T> C single nucleotide variant Benign rs41351148 GRCh37 Chromosome 21, 34804650: 34804650
22 IFNGR2 NM_005534.3(IFNGR2): c.721+7T> C single nucleotide variant Benign rs41351148 GRCh38 Chromosome 21, 33432343: 33432343
23 IFNGR2 NM_005534.3(IFNGR2): c.249G> A (p.Gly83=) single nucleotide variant Likely benign rs141609920 GRCh38 Chromosome 21, 33421522: 33421522
24 IFNGR2 NM_005534.3(IFNGR2): c.249G> A (p.Gly83=) single nucleotide variant Likely benign rs141609920 GRCh37 Chromosome 21, 34793829: 34793829
25 IFNGR2 NM_005534.3(IFNGR2): c.51_62delCGCCGCCGCCGC (p.Ala19_Ala22del) deletion Uncertain significance GRCh38 Chromosome 21, 33403594: 33403605
26 IFNGR2 NM_005534.3(IFNGR2): c.51_62delCGCCGCCGCCGC (p.Ala19_Ala22del) deletion Uncertain significance GRCh37 Chromosome 21, 34775900: 34775911
27 IFNGR2 NM_005534.3(IFNGR2): c.234C> T (p.Asp78=) single nucleotide variant Benign rs138717312 GRCh38 Chromosome 21, 33421507: 33421507
28 IFNGR2 NM_005534.3(IFNGR2): c.234C> T (p.Asp78=) single nucleotide variant Benign rs138717312 GRCh37 Chromosome 21, 34793814: 34793814
29 IFNGR2 NM_005534.3(IFNGR2): c.206+8G> A single nucleotide variant Likely benign rs766931525 GRCh38 Chromosome 21, 33415028: 33415028
30 IFNGR2 NM_005534.3(IFNGR2): c.206+8G> A single nucleotide variant Likely benign rs766931525 GRCh37 Chromosome 21, 34787335: 34787335
31 IFNGR2 NM_005534.3(IFNGR2): c.514T> A (p.Phe172Ile) single nucleotide variant Uncertain significance rs375419913 GRCh37 Chromosome 21, 34799292: 34799292
32 IFNGR2 NM_005534.3(IFNGR2): c.514T> A (p.Phe172Ile) single nucleotide variant Uncertain significance rs375419913 GRCh38 Chromosome 21, 33426985: 33426985
33 IFNGR2 NC_000021.8: g.(?_34638751)_(34809289_?)dup duplication Uncertain significance GRCh37 Chromosome 21, 34638751: 34809289
34 IFNGR2 NM_005534.3(IFNGR2): c.58G> A (p.Ala20Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 33403601: 33403601
35 IFNGR2 NM_005534.3(IFNGR2): c.58G> A (p.Ala20Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34775907: 34775907
36 IFNGR2 NM_005534.3(IFNGR2): c.616A> G (p.Arg206Gly) single nucleotide variant Uncertain significance rs147894635 GRCh37 Chromosome 21, 34804538: 34804538
37 IFNGR2 NM_005534.3(IFNGR2): c.616A> G (p.Arg206Gly) single nucleotide variant Uncertain significance rs147894635 GRCh38 Chromosome 21, 33432231: 33432231
38 IFNGR2 NM_005534.3(IFNGR2): c.780G> A (p.Ser260=) single nucleotide variant Uncertain significance rs121913217 GRCh38 Chromosome 21, 33432772: 33432772
39 IFNGR2 NM_005534.3(IFNGR2): c.780G> A (p.Ser260=) single nucleotide variant Uncertain significance rs121913217 GRCh37 Chromosome 21, 34805079: 34805079
40 IFNGR2 NM_005534.3(IFNGR2): c.940G> A (p.Asp314Asn) single nucleotide variant Uncertain significance rs369529404 GRCh38 Chromosome 21, 33436888: 33436888
41 IFNGR2 NM_005534.3(IFNGR2): c.940G> A (p.Asp314Asn) single nucleotide variant Uncertain significance rs369529404 GRCh37 Chromosome 21, 34809195: 34809195
42 IFNGR2 NM_005534.3(IFNGR2): c.308C> T (p.Ala103Val) single nucleotide variant Uncertain significance rs139212989 GRCh37 Chromosome 21, 34793888: 34793888
43 IFNGR2 NM_005534.3(IFNGR2): c.308C> T (p.Ala103Val) single nucleotide variant Uncertain significance rs139212989 GRCh38 Chromosome 21, 33421581: 33421581

Expression for Immunodeficiency 28

Search GEO for disease gene expression data for Immunodeficiency 28.

Pathways for Immunodeficiency 28

GO Terms for Immunodeficiency 28

Cellular components related to Immunodeficiency 28 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 IFNGR2 TMEM50B
2 Golgi apparatus GO:0005794 9.16 IFNGR2 TMEM50B
3 endoplasmic reticulum membrane GO:0005789 8.96 IFNGR2 TMEM50B
4 Golgi membrane GO:0000139 8.62 IFNGR2 TMEM50B

Sources for Immunodeficiency 28

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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