IMD15B
MCID: IMM195
MIFTS: 19

Immunodeficiency 15b (IMD15B)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 15b

MalaCards integrated aliases for Immunodeficiency 15b:

Name: Immunodeficiency 15b 58 76
Imd15b 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death without bone marrow transplantation
four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)


HPO:

33
immunodeficiency 15b:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615592
MeSH 45 D016511
MedGen 43 C3810043

Summaries for Immunodeficiency 15b

OMIM : 58 Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional studies show impaired differentiation and activation of immune cells (summary by Pannicke et al., 2013). (615592)

MalaCards based summary : Immunodeficiency 15b, is also known as imd15b. An important gene associated with Immunodeficiency 15b is IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta). Affiliated tissues include t cells, bone and b cells, and related phenotypes are failure to thrive and immunodeficiency

UniProtKB/Swiss-Prot : 76 Immunodeficiency 15B: An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells.

Related Diseases for Immunodeficiency 15b

Symptoms & Phenotypes for Immunodeficiency 15b

Human phenotypes related to Immunodeficiency 15b:

33
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 immunodeficiency 33 HP:0002721
3 chronic diarrhea 33 HP:0002028
4 agammaglobulinemia 33 HP:0004432
5 respiratory tract infection 33 HP:0011947

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Immunology:
agammaglobulinemia
hypogammaglobulinemia
primary immunodeficiency
decreased numbers of nk cells
increased igm (1 patient)
more
Head And Neck Mouth:
candidiasis

Abdomen Gastrointestinal:
chronic diarrhea

Respiratory:
respiratory infections

Clinical features from OMIM:

615592

Drugs & Therapeutics for Immunodeficiency 15b

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 15b

Genetic Tests for Immunodeficiency 15b

Anatomical Context for Immunodeficiency 15b

MalaCards organs/tissues related to Immunodeficiency 15b:

42
T Cells, Bone, B Cells, Bone Marrow, Nk Cells, Liver

Publications for Immunodeficiency 15b

Articles related to Immunodeficiency 15b:

# Title Authors Year
1
Immunodeficiency associated with a nonsense mutation of IKBKB. ( 25216719 )
2014
2
Deficiency of innate and acquired immunity caused by an IKBKB mutation. ( 24369075 )
2013
3
Severe liver degeneration in mice lacking the IkappaB kinase 2 gene. ( 10195897 )
1999

Variations for Immunodeficiency 15b

ClinVar genetic disease variations for Immunodeficiency 15b:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKB NM_001556.3(IKBKB): c.1292dup (p.Gln432Profs) duplication Pathogenic rs886041036 GRCh37 Chromosome 8, 42176121: 42176121
2 IKBKB NM_001556.3(IKBKB): c.1292dup (p.Gln432Profs) duplication Pathogenic rs886041036 GRCh38 Chromosome 8, 42318603: 42318603
3 IKBKB NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs200296680 GRCh38 Chromosome 8, 42316223: 42316223
4 IKBKB NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs200296680 GRCh37 Chromosome 8, 42173741: 42173741
5 IKBKB NM_001556.2(IKBKB): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs2272736 GRCh38 Chromosome 8, 42319645: 42319645
6 IKBKB NM_001556.2(IKBKB): c.1577G> A (p.Arg526Gln) single nucleotide variant Benign rs2272736 GRCh37 Chromosome 8, 42177163: 42177163
7 IKBKB NM_001556.2(IKBKB): c.1083G> A (p.Leu361=) single nucleotide variant Benign rs56230731 GRCh37 Chromosome 8, 42174380: 42174380
8 IKBKB NM_001556.2(IKBKB): c.1083G> A (p.Leu361=) single nucleotide variant Benign rs56230731 GRCh38 Chromosome 8, 42316862: 42316862
9 IKBKB NM_001556.2(IKBKB): c.1119C> T (p.Asp373=) single nucleotide variant Benign rs140666106 GRCh37 Chromosome 8, 42174416: 42174416
10 IKBKB NM_001556.2(IKBKB): c.1119C> T (p.Asp373=) single nucleotide variant Benign rs140666106 GRCh38 Chromosome 8, 42316898: 42316898
11 IKBKB NM_001556.2(IKBKB): c.1702A> C (p.Arg568=) single nucleotide variant Benign rs151057347 GRCh37 Chromosome 8, 42179427: 42179427
12 IKBKB NM_001556.2(IKBKB): c.1702A> C (p.Arg568=) single nucleotide variant Benign rs151057347 GRCh38 Chromosome 8, 42321909: 42321909
13 IKBKB NM_001556.2(IKBKB): c.718G> A (p.Glu240Lys) single nucleotide variant Uncertain significance rs201052871 GRCh38 Chromosome 8, 42314347: 42314347
14 IKBKB NM_001556.2(IKBKB): c.718G> A (p.Glu240Lys) single nucleotide variant Uncertain significance rs201052871 GRCh37 Chromosome 8, 42171865: 42171865
15 IKBKB NM_001556.2(IKBKB): c.1062G> T (p.Leu354=) single nucleotide variant Likely benign rs145086380 GRCh37 Chromosome 8, 42174359: 42174359
16 IKBKB NM_001556.2(IKBKB): c.1062G> T (p.Leu354=) single nucleotide variant Likely benign rs145086380 GRCh38 Chromosome 8, 42316841: 42316841
17 IKBKB NM_001556.2(IKBKB): c.1338G> A (p.Arg446=) single nucleotide variant Likely benign rs1554523461 GRCh38 Chromosome 8, 42318649: 42318649
18 IKBKB NM_001556.2(IKBKB): c.1338G> A (p.Arg446=) single nucleotide variant Likely benign rs1554523461 GRCh37 Chromosome 8, 42176167: 42176167
19 IKBKB NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys) single nucleotide variant Benign rs115698972 GRCh37 Chromosome 8, 42176927: 42176927
20 IKBKB NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys) single nucleotide variant Benign rs115698972 GRCh38 Chromosome 8, 42319409: 42319409
21 IKBKB NM_001556.2(IKBKB): c.1606C> T (p.Arg536Trp) single nucleotide variant Benign rs140485496 GRCh37 Chromosome 8, 42178280: 42178280
22 IKBKB NM_001556.2(IKBKB): c.1606C> T (p.Arg536Trp) single nucleotide variant Benign rs140485496 GRCh38 Chromosome 8, 42320762: 42320762
23 IKBKB NM_001556.2(IKBKB): c.388+9C> T single nucleotide variant Likely benign rs140937081 GRCh37 Chromosome 8, 42151039: 42151039
24 IKBKB NM_001556.2(IKBKB): c.388+9C> T single nucleotide variant Likely benign rs140937081 GRCh38 Chromosome 8, 42293521: 42293521
25 IKBKB NM_001556.2(IKBKB): c.509C> T (p.Ala170Val) single nucleotide variant Uncertain significance rs1554518965 GRCh37 Chromosome 8, 42163892: 42163892
26 IKBKB NM_001556.2(IKBKB): c.509C> T (p.Ala170Val) single nucleotide variant Uncertain significance rs1554518965 GRCh38 Chromosome 8, 42306374: 42306374
27 IKBKB NM_001556.2(IKBKB): c.732T> C (p.Val244=) single nucleotide variant Benign rs138978376 GRCh38 Chromosome 8, 42314361: 42314361
28 IKBKB NM_001556.2(IKBKB): c.732T> C (p.Val244=) single nucleotide variant Benign rs138978376 GRCh37 Chromosome 8, 42171879: 42171879
29 IKBKB NM_001556.2(IKBKB): c.738C> T (p.Ser246=) single nucleotide variant Likely benign rs151151310 GRCh38 Chromosome 8, 42314367: 42314367
30 IKBKB NM_001556.2(IKBKB): c.738C> T (p.Ser246=) single nucleotide variant Likely benign rs151151310 GRCh37 Chromosome 8, 42171885: 42171885
31 IKBKB NM_001556.2(IKBKB): c.1390T> C (p.Cys464Arg) single nucleotide variant Uncertain significance rs141839189 GRCh37 Chromosome 8, 42176813: 42176813
32 IKBKB NM_001556.2(IKBKB): c.1390T> C (p.Cys464Arg) single nucleotide variant Uncertain significance rs141839189 GRCh38 Chromosome 8, 42319295: 42319295
33 IKBKB NM_001556.2(IKBKB): c.1669G> A (p.Gly557Arg) single nucleotide variant Uncertain significance rs149701177 GRCh37 Chromosome 8, 42178343: 42178343
34 IKBKB NM_001556.2(IKBKB): c.1669G> A (p.Gly557Arg) single nucleotide variant Uncertain significance rs149701177 GRCh38 Chromosome 8, 42320825: 42320825
35 IKBKB NM_001556.2(IKBKB): c.1126-4G> A single nucleotide variant Likely benign rs201394549 GRCh37 Chromosome 8, 42175171: 42175171
36 IKBKB NM_001556.2(IKBKB): c.1126-4G> A single nucleotide variant Likely benign rs201394549 GRCh38 Chromosome 8, 42317653: 42317653
37 IKBKB NM_001556.2(IKBKB): c.2228A> T (p.Gln743Leu) single nucleotide variant Uncertain significance rs201869683 GRCh38 Chromosome 8, 42330936: 42330936
38 IKBKB NM_001556.2(IKBKB): c.2228A> T (p.Gln743Leu) single nucleotide variant Uncertain significance rs201869683 GRCh37 Chromosome 8, 42188454: 42188454
39 IKBKB NM_001556.3(IKBKB): c.1819G> C (p.Val607Leu) single nucleotide variant Uncertain significance rs764627236 GRCh38 Chromosome 8, 42322134: 42322134
40 IKBKB NM_001556.3(IKBKB): c.1819G> C (p.Val607Leu) single nucleotide variant Uncertain significance rs764627236 GRCh37 Chromosome 8, 42179652: 42179652
41 IKBKB NM_001556.3(IKBKB): c.2087A> G (p.Asn696Ser) single nucleotide variant Uncertain significance rs202226005 GRCh37 Chromosome 8, 42183588: 42183588
42 IKBKB NM_001556.3(IKBKB): c.2087A> G (p.Asn696Ser) single nucleotide variant Uncertain significance rs202226005 GRCh38 Chromosome 8, 42326070: 42326070
43 IKBKB NM_001556.3(IKBKB): c.402A> G (p.Arg134=) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42162718: 42162718
44 IKBKB NM_001556.3(IKBKB): c.402A> G (p.Arg134=) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42305200: 42305200
45 IKBKB NM_001556.3(IKBKB): c.522T> G (p.Asp174Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42306387: 42306387
46 IKBKB NM_001556.3(IKBKB): c.522T> G (p.Asp174Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42163905: 42163905
47 IKBKB NM_001556.3(IKBKB): c.941T> C (p.Ile314Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42316720: 42316720
48 IKBKB NM_001556.3(IKBKB): c.941T> C (p.Ile314Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42174238: 42174238
49 IKBKB NM_001556.3(IKBKB): c.1336C> T (p.Arg446Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 42318647: 42318647
50 IKBKB NM_001556.3(IKBKB): c.1336C> T (p.Arg446Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 42176165: 42176165

Expression for Immunodeficiency 15b

Search GEO for disease gene expression data for Immunodeficiency 15b.

Pathways for Immunodeficiency 15b

GO Terms for Immunodeficiency 15b

Sources for Immunodeficiency 15b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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