MCID: IMM099
MIFTS: 21

Immunodeficiency 33

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

Aliases & Classifications for Immunodeficiency 33

MalaCards integrated aliases for Immunodeficiency 33:

Name: Immunodeficiency 33 57 75
Familial Atypical Mycobacteriosis, Type 1, X-Linked 29 6
Atypical Mycobacteriosis, Familial, X-Linked 1 57 73
Amcbx1 57 75
Imd33 57 75
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Ikbkg Deficiency 59
X-Linked Mendelian Susceptibility to Mycobacterial Diseases Due to Nemo Deficiency 59
X-Linked Disseminated Atypical Mycobacterial Infection Type 1 75
X-Linked Susceptibility to Mycobacterial Disease Type 1 75
Atypical Mycobacteriosis, Familial, X-Linked 1; Amcbx1 57
Immunodeficiency 33, Mycobacteriosis, X-Linked 57
Familial, X-Linked, Atypical Mycobacteriosis 1 75
X-Linked Immunodeficiency 33, Mycobacteriosis 75
X-Linked Msmd Due to Ikbkg Deficiency 59
X-Linked Msmd Due to Nemo Deficiency 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
onset in the first 2 decades
poor response to treatment
chronic condition


HPO:

32
immunodeficiency 33:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 300636
Orphanet 59 ORPHA319612
ICD10 via Orphanet 34 D84.8
MedGen 42 C1970879
MeSH 44 D007153
UMLS 73 C1970879

Summaries for Immunodeficiency 33

OMIM : 57 IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (300291), together with osteopetrosis and lymphedema (300301) in some patients, and immunodeficiency without ectodermal dysplasia (300584). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see 161561) production, resulting in impaired IFNG (147570) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008). (300636)

MalaCards based summary : Immunodeficiency 33, also known as familial atypical mycobacteriosis, type 1, x-linked, is related to nf-kappa b essential modulator deficiency. An important gene associated with Immunodeficiency 33 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma). Affiliated tissues include t cells and monocytes, and related phenotypes are delayed eruption of teeth and conical tooth

UniProtKB/Swiss-Prot : 75 Immunodeficiency 33: A X-linked recessive form of Mendelian susceptibility to mycobacterial disease, a rare condition 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.

Related Diseases for Immunodeficiency 33

Diseases related to Immunodeficiency 33 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nf-kappa b essential modulator deficiency 11.0

Symptoms & Phenotypes for Immunodeficiency 33

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
delayed eruption of teeth (in some patients)
conical teeth (in some patients)

Immunology:
susceptibility to disseminated mycobacterial infections
some patients may have increased susceptibility to other infections
impaired production of il-12 and gamma-interferon


Clinical features from OMIM:

300636

Human phenotypes related to Immunodeficiency 33:

32
# Description HPO Frequency HPO Source Accession
1 delayed eruption of teeth 32 occasional (7.5%) HP:0000684
2 conical tooth 32 occasional (7.5%) HP:0000698
3 recurrent bacterial infections 32 HP:0002718
4 immunodeficiency 32 HP:0002721

Drugs & Therapeutics for Immunodeficiency 33

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 33

Genetic Tests for Immunodeficiency 33

Genetic tests related to Immunodeficiency 33:

# Genetic test Affiliating Genes
1 Familial Atypical Mycobacteriosis, Type 1, X-Linked 29 IKBKG

Anatomical Context for Immunodeficiency 33

MalaCards organs/tissues related to Immunodeficiency 33:

41
T Cells, Monocytes

Publications for Immunodeficiency 33

Variations for Immunodeficiency 33

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 33:

75
# Symbol AA change Variation ID SNP ID
1 IKBKG p.Glu315Ala VAR_031959 rs137853331
2 IKBKG p.Arg319Gln VAR_031960 rs137853332

ClinVar genetic disease variations for Immunodeficiency 33:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG NM_003639.4(IKBKG): c.944A> C (p.Glu315Ala) single nucleotide variant Pathogenic rs137853331 GRCh37 Chromosome X, 153791805: 153791805
2 IKBKG NM_003639.4(IKBKG): c.944A> C (p.Glu315Ala) single nucleotide variant Pathogenic rs137853331 GRCh38 Chromosome X, 154563590: 154563590
3 IKBKG NM_003639.4(IKBKG): c.956G> A (p.Arg319Gln) single nucleotide variant Pathogenic rs137853332 GRCh37 Chromosome X, 153791817: 153791817
4 IKBKG NM_003639.4(IKBKG): c.956G> A (p.Arg319Gln) single nucleotide variant Pathogenic rs137853332 GRCh38 Chromosome X, 154563602: 154563602

Expression for Immunodeficiency 33

Search GEO for disease gene expression data for Immunodeficiency 33.

Pathways for Immunodeficiency 33

GO Terms for Immunodeficiency 33

Sources for Immunodeficiency 33

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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