MCID: SVR074
MIFTS: 13

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 58
Scid Due to Ikk2 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to ikk2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 D81.2
Orphanet 58 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).

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

Publications for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

Articles related to Severe Combined Immunodeficiency Due to Ikk2 Deficiency:

# Title Authors PMID Year
1
Immunodeficiency associated with a nonsense mutation of IKBKB. 6
25216719 2014
2
A nonsense mutation in IKBKB causes combined immunodeficiency. 6
25139357 2014
3
Deficiency of innate and acquired immunity caused by an IKBKB mutation. 6
24369075 2013
4
Severe liver degeneration in mice lacking the IkappaB kinase 2 gene. 6
10195897 1999

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 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IKBKB NM_001556.3(IKBKB):c.1292dup (p.Gln432fs) Duplication Pathogenic 102445 rs886041036 GRCh37: 8:42176117-42176118
GRCh38: 8:42318599-42318600
2 IKBKB NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter) SNV Pathogenic 157663 rs200296680 GRCh37: 8:42173741-42173741
GRCh38: 8:42316223-42316223
3 IKBKB NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) SNV Pathogenic 957808 GRCh37: 8:42173783-42173783
GRCh38: 8:42316265-42316265
4 IKBKB NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) SNV Conflicting interpretations of pathogenicity 634580 rs753922163 GRCh37: 8:42179959-42179959
GRCh38: 8:42322441-42322441
5 IKBKB NM_001556.3(IKBKB):c.90C>G (p.Ile30Met) SNV Uncertain significance 1004890 GRCh37: 8:42129708-42129708
GRCh38: 8:42272190-42272190
6 IKBKB NM_001556.3(IKBKB):c.1084A>G (p.Ile362Val) SNV Uncertain significance 1009653 GRCh37: 8:42174381-42174381
GRCh38: 8:42316863-42316863
7 IKBKB NM_001556.3(IKBKB):c.1829C>T (p.Thr610Met) SNV Uncertain significance 1009842 GRCh37: 8:42179662-42179662
GRCh38: 8:42322144-42322144
8 IKBKB NM_001556.3(IKBKB):c.1679T>C (p.Leu560Pro) SNV Uncertain significance 1010624 GRCh37: 8:42178353-42178353
GRCh38: 8:42320835-42320835
9 IKBKB NM_001556.3(IKBKB):c.1658G>C (p.Gly553Ala) SNV Uncertain significance 1011389 GRCh37: 8:42178332-42178332
GRCh38: 8:42320814-42320814
10 IKBKB NM_001556.3(IKBKB):c.318+6G>T SNV Uncertain significance 641287 rs17875678 GRCh37: 8:42147797-42147797
GRCh38: 8:42290279-42290279
11 IKBKB NM_001556.3(IKBKB):c.2114+3A>G SNV Uncertain significance 862784 GRCh37: 8:42183618-42183618
GRCh38: 8:42326100-42326100
12 IKBKB NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser) SNV Uncertain significance 933403 GRCh37: 8:42175284-42175284
GRCh38: 8:42317766-42317766
13 IKBKB NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr) SNV Uncertain significance 934210 GRCh37: 8:42176189-42176189
GRCh38: 8:42318671-42318671
14 IKBKB NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg) SNV Uncertain significance 942468 GRCh37: 8:42173829-42173829
GRCh38: 8:42316311-42316311
15 IKBKB NM_001556.3(IKBKB):c.1494C>T (p.Ser498=) SNV Uncertain significance 950185 GRCh37: 8:42176917-42176917
GRCh38: 8:42319399-42319399
16 IKBKB NM_001556.3(IKBKB):c.385A>G (p.Ile129Val) SNV Uncertain significance 1015900 GRCh37: 8:42151027-42151027
GRCh38: 8:42293509-42293509
17 IKBKB NM_001556.3(IKBKB):c.840G>T (p.Met280Ile) SNV Uncertain significance 1020969 GRCh37: 8:42173767-42173767
GRCh38: 8:42316249-42316249
18 IKBKB NM_001556.3(IKBKB):c.215A>G (p.Asn72Ser) SNV Uncertain significance 1021812 GRCh37: 8:42147688-42147688
GRCh38: 8:42290170-42290170
19 IKBKB NM_001556.3(IKBKB):c.200+16A>G SNV Uncertain significance 1022094 GRCh37: 8:42146262-42146262
GRCh38: 8:42288744-42288744
20 IKBKB NM_001556.3(IKBKB):c.1675A>T (p.Thr559Ser) SNV Uncertain significance 1023121 GRCh37: 8:42178349-42178349
GRCh38: 8:42320831-42320831
21 IKBKB NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys) SNV Uncertain significance 474793 rs201052871 GRCh37: 8:42171865-42171865
GRCh38: 8:42314347-42314347
22 IKBKB NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala) SNV Uncertain significance 852245 GRCh37: 8:42171899-42171899
GRCh38: 8:42314381-42314381
23 IKBKB NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys) SNV Uncertain significance 852315 GRCh37: 8:42186731-42186731
GRCh38: 8:42329213-42329213
24 IKBKB NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys) SNV Uncertain significance 855158 GRCh37: 8:42173747-42173747
GRCh38: 8:42316229-42316229
25 IKBKB NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) SNV Uncertain significance 856696 GRCh37: 8:42174417-42174417
GRCh38: 8:42316899-42316899
26 IKBKB NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu) SNV Uncertain significance 861970 GRCh37: 8:42174394-42174394
GRCh38: 8:42316876-42316876
27 IKBKB NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu) SNV Uncertain significance 579568 rs749952717 GRCh37: 8:42163905-42163905
GRCh38: 8:42306387-42306387
28 IKBKB NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu) SNV Uncertain significance 579766 rs1563364138 GRCh37: 8:42179646-42179646
GRCh38: 8:42322128-42322128
29 IKBKB NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met) SNV Uncertain significance 638981 rs754822259 GRCh37: 8:42178350-42178350
GRCh38: 8:42320832-42320832
30 IKBKB NM_001556.3(IKBKB):c.2079G>A (p.Thr693=) SNV Uncertain significance 641937 rs185488674 GRCh37: 8:42183580-42183580
GRCh38: 8:42326062-42326062
31 IKBKB NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) SNV Uncertain significance 646483 rs753511458 GRCh37: 8:42186646-42186646
GRCh38: 8:42329128-42329128
32 IKBKB NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln) SNV Uncertain significance 649552 rs200485393 GRCh37: 8:42176166-42176166
GRCh38: 8:42318648-42318648
33 IKBKB NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln) SNV Uncertain significance 650274 rs139712776 GRCh37: 8:42150995-42150995
GRCh38: 8:42293477-42293477
34 IKBKB NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg) SNV Uncertain significance 653915 rs56411242 GRCh37: 8:42174403-42174403
GRCh38: 8:42316885-42316885
35 IKBKB NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro) SNV Uncertain significance 654418 rs1585781141 GRCh37: 8:42177105-42177105
GRCh38: 8:42319587-42319587
36 IKBKB NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met) SNV Uncertain significance 657184 rs199897983 GRCh37: 8:42183579-42183579
GRCh38: 8:42326061-42326061
37 IKBKB NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu) SNV Uncertain significance 658018 rs1193171808 GRCh37: 8:42171847-42171847
GRCh38: 8:42314329-42314329
38 IKBKB NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del) Microsatellite Uncertain significance 658185 rs774937660 GRCh37: 8:42188459-42188461
GRCh38: 8:42330941-42330943
39 IKBKB NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) SNV Uncertain significance 663077 rs200136227 GRCh37: 8:42147703-42147703
GRCh38: 8:42290185-42290185
40 IKBKB NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys) SNV Uncertain significance 665841 rs1378740755 GRCh37: 8:42177138-42177138
GRCh38: 8:42319620-42319620
41 IKBKB NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg) SNV Uncertain significance 541640 rs141839189 GRCh37: 8:42176813-42176813
GRCh38: 8:42319295-42319295
42 IKBKB NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu) SNV Uncertain significance 541641 rs201869683 GRCh37: 8:42188454-42188454
GRCh38: 8:42330936-42330936
43 IKBKB NM_001556.3(IKBKB):c.509C>T (p.Ala170Val) SNV Uncertain significance 541642 rs1554518965 GRCh37: 8:42163892-42163892
GRCh38: 8:42306374-42306374
44 IKBKB NM_001556.3(IKBKB):c.1669G>A (p.Gly557Arg) SNV Uncertain significance 541643 rs149701177 GRCh37: 8:42178343-42178343
GRCh38: 8:42320825-42320825
45 IKBKB NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu) SNV Uncertain significance 547913 rs764627236 GRCh37: 8:42179652-42179652
GRCh38: 8:42322134-42322134
46 IKBKB NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser) SNV Uncertain significance 547914 rs202226005 GRCh37: 8:42183588-42183588
GRCh38: 8:42326070-42326070
47 IKBKB NM_001556.3(IKBKB):c.402A>G (p.Arg134=) SNV Uncertain significance 570651 rs1255803017 GRCh37: 8:42162718-42162718
GRCh38: 8:42305200-42305200
48 IKBKB NM_001556.3(IKBKB):c.800+3A>G SNV Uncertain significance 662271 rs1324740567 GRCh37: 8:42171950-42171950
GRCh38: 8:42314432-42314432
49 IKBKB NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile) SNV Uncertain significance 802402 rs1184918253 GRCh37: 8:42176889-42176889
GRCh38: 8:42319371-42319371
50 IKBKB NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys) SNV Uncertain significance 936448 GRCh37: 8:42173808-42173808
GRCh38: 8:42316290-42316290

Expression for Severe Combined Immunodeficiency Due to Ikk2 Deficiency

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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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