MCID: SVR074
MIFTS: 6

Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

MalaCards integrated aliases for Severe Combined Immunodeficiency Due to Ikk2 Deficiency:

Name: Severe Combined Immunodeficiency Due to Ikk2 Deficiency 60
Scid Due to Ikk2 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
severe combined immunodeficiency due to ikk2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D81.2
Orphanet 60 ORPHA397787

Summaries for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

MalaCards based summary : Severe Combined Immunodeficiency Due to Ikk2 Deficiency, is also known as scid due to ikk2 deficiency. An important gene associated with Severe Combined Immunodeficiency Due to Ikk2 Deficiency is IKBKB (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta). Affiliated tissues include b cells.

Related Diseases for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Symptoms & Phenotypes for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Drugs & Therapeutics for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Genetic Tests for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Anatomical Context for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

MalaCards organs/tissues related to Severe Combined Immunodeficiency Due to Ikk2 Deficiency:

42
B Cells

Publications for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Variations for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency Due to Ikk2 Deficiency:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 IKBKB NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs200296680 GRCh38 Chromosome 8, 42316223: 42316223
2 IKBKB NM_001556.2(IKBKB): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs200296680 GRCh37 Chromosome 8, 42173741: 42173741
3 IKBKB NM_001556.3(IKBKB): c.1292dup (p.Gln432Profs) duplication Pathogenic rs886041036 GRCh37 Chromosome 8, 42176121: 42176121
4 IKBKB NM_001556.3(IKBKB): c.1292dup (p.Gln432Profs) duplication Pathogenic rs886041036 GRCh38 Chromosome 8, 42318603: 42318603
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 GRCh38 Chromosome 8, 42316862: 42316862
8 IKBKB NM_001556.2(IKBKB): c.1083G> A (p.Leu361=) single nucleotide variant Benign rs56230731 GRCh37 Chromosome 8, 42174380: 42174380
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 GRCh38 Chromosome 8, 42321909: 42321909
12 IKBKB NM_001556.2(IKBKB): c.1702A> C (p.Arg568=) single nucleotide variant Benign rs151057347 GRCh37 Chromosome 8, 42179427: 42179427
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 GRCh38 Chromosome 8, 42319409: 42319409
20 IKBKB NM_001556.2(IKBKB): c.1504G> A (p.Glu502Lys) single nucleotide variant Benign rs115698972 GRCh37 Chromosome 8, 42176927: 42176927
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 GRCh37 Chromosome 8, 42171879: 42171879
28 IKBKB NM_001556.2(IKBKB): c.732T> C (p.Val244=) single nucleotide variant Benign rs138978376 GRCh38 Chromosome 8, 42314361: 42314361
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 Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Search GEO for disease gene expression data for Severe Combined Immunodeficiency Due to Ikk2 Deficiency.

Pathways for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

GO Terms for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Sources for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

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