IMD15B
MCID: IMM195
MIFTS: 25

Immunodeficiency 15b (IMD15B)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 15b

MalaCards integrated aliases for Immunodeficiency 15b:

Name: Immunodeficiency 15b 57 12 73 6
Imd15b 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
immunodeficiency 15b:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111959
OMIM® 57 615592
OMIM Phenotypic Series 57 PS300755
MeSH 44 D016511
UMLS 71 C4747743

Summaries for Immunodeficiency 15b

OMIM® : 57 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) (Updated 05-Mar-2021)

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 marrow and bone, and related phenotypes are failure to thrive and immunodeficiency

Disease Ontology : 12 A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has material basis in homozygous or compound heterozygous mutation in IKBKB on chromosome 8p11.21.

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 immunodeficiency 31 HP:0002721
3 chronic diarrhea 31 HP:0002028
4 agammaglobulinemia 31 HP:0004432
5 respiratory tract infection 31 HP:0011947

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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:

40
T Cells, Bone Marrow, Bone, B Cells, Nk Cells, Liver

Publications for Immunodeficiency 15b

Articles related to Immunodeficiency 15b:

# Title Authors PMID Year
1
Immunodeficiency associated with a nonsense mutation of IKBKB. 6 57
25216719 2014
2
Deficiency of innate and acquired immunity caused by an IKBKB mutation. 6 57
24369075 2013
3
Severe liver degeneration in mice lacking the IkappaB kinase 2 gene. 57 6
10195897 1999

Variations for Immunodeficiency 15b

ClinVar genetic disease variations for Immunodeficiency 15b:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKB NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) SNV Pathogenic 957808 8:42173783-42173783 8:42316265-42316265
2 IKBKB NM_001556.3(IKBKB):c.1292dup (p.Gln432fs) Duplication Pathogenic 102445 rs886041036 8:42176117-42176118 8:42318599-42318600
3 IKBKB NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter) SNV Pathogenic 157663 rs200296680 8:42173741-42173741 8:42316223-42316223
4 IKBKB NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys) SNV Uncertain significance 474793 rs201052871 8:42171865-42171865 8:42314347-42314347
5 IKBKB NM_001556.3(IKBKB):c.674A>G (p.Asn225Ser) SNV Uncertain significance 957836 8:42166525-42166525 8:42309007-42309007
6 IKBKB NM_001556.3(IKBKB):c.650C>T (p.Thr217Met) SNV Uncertain significance 959334 8:42166501-42166501 8:42308983-42308983
7 IKBKB NM_001556.3(IKBKB):c.106-3T>C SNV Uncertain significance 959835 8:42146149-42146149 8:42288631-42288631
8 IKBKB NM_001556.3(IKBKB):c.730G>A (p.Val244Ile) SNV Uncertain significance 960562 8:42171877-42171877 8:42314359-42314359
9 IKBKB NM_001556.3(IKBKB):c.1517-3C>G SNV Uncertain significance 963475 8:42177100-42177100 8:42319582-42319582
10 IKBKB NM_001556.3(IKBKB):c.916A>G (p.Ile306Val) SNV Uncertain significance 964932 8:42173843-42173843 8:42316325-42316325
11 IKBKB NM_001556.3(IKBKB):c.2036C>T (p.Ser679Phe) SNV Uncertain significance 967656 8:42183537-42183537 8:42326019-42326019
12 IKBKB NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu) SNV Uncertain significance 579568 rs749952717 8:42163905-42163905 8:42306387-42306387
13 IKBKB NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu) SNV Uncertain significance 579766 rs1563364138 8:42179646-42179646 8:42322128-42322128
14 IKBKB NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met) SNV Uncertain significance 638981 rs754822259 8:42178350-42178350 8:42320832-42320832
15 IKBKB NM_001556.3(IKBKB):c.2079G>A (p.Thr693=) SNV Uncertain significance 641937 rs185488674 8:42183580-42183580 8:42326062-42326062
16 IKBKB NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys) SNV Uncertain significance 646483 rs753511458 8:42186646-42186646 8:42329128-42329128
17 IKBKB NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln) SNV Uncertain significance 649552 rs200485393 8:42176166-42176166 8:42318648-42318648
18 IKBKB NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln) SNV Uncertain significance 650274 rs139712776 8:42150995-42150995 8:42293477-42293477
19 IKBKB NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg) SNV Uncertain significance 653915 rs56411242 8:42174403-42174403 8:42316885-42316885
20 IKBKB NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro) SNV Uncertain significance 654418 rs1585781141 8:42177105-42177105 8:42319587-42319587
21 IKBKB NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met) SNV Uncertain significance 657184 rs199897983 8:42183579-42183579 8:42326061-42326061
22 IKBKB NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu) SNV Uncertain significance 658018 rs1193171808 8:42171847-42171847 8:42314329-42314329
23 IKBKB NM_001556.3(IKBKB):c.2235AGA[2] (p.Glu748del) Microsatellite Uncertain significance 658185 rs774937660 8:42188459-42188461 8:42330941-42330943
24 IKBKB NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln) SNV Uncertain significance 663077 rs200136227 8:42147703-42147703 8:42290185-42290185
25 IKBKB NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys) SNV Uncertain significance 665841 rs1378740755 8:42177138-42177138 8:42319620-42319620
26 IKBKB NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn) SNV Uncertain significance 666028 rs1221917553 8:42175287-42175287 8:42317769-42317769
27 IKBKB NM_001556.3(IKBKB):c.1986T>C (p.Cys662=) SNV Uncertain significance 838080 8:42180012-42180012 8:42322494-42322494
28 IKBKB NM_001556.3(IKBKB):c.1819G>A (p.Val607Met) SNV Uncertain significance 839133 8:42179652-42179652 8:42322134-42322134
29 IKBKB NM_001556.3(IKBKB):c.878C>T (p.Thr293Met) SNV Uncertain significance 841569 8:42173805-42173805 8:42316287-42316287
30 IKBKB NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala) SNV Uncertain significance 849631 8:42183501-42183501 8:42325983-42325983
31 IKBKB NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala) SNV Uncertain significance 852245 8:42171899-42171899 8:42314381-42314381
32 IKBKB NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys) SNV Uncertain significance 852315 8:42186731-42186731 8:42329213-42329213
33 IKBKB NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys) SNV Uncertain significance 855158 8:42173747-42173747 8:42316229-42316229
34 IKBKB NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser) SNV Uncertain significance 856696 8:42174417-42174417 8:42316899-42316899
35 IKBKB NM_001556.3(IKBKB):c.757G>C (p.Val253Leu) SNV Uncertain significance 857272 8:42171904-42171904 8:42314386-42314386
36 IKBKB NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu) SNV Uncertain significance 861970 8:42174394-42174394 8:42316876-42316876
37 IKBKB NM_001556.3(IKBKB):c.2114+3A>G SNV Uncertain significance 862784 8:42183618-42183618 8:42326100-42326100
38 IKBKB NM_001556.3(IKBKB):c.800+3A>G SNV Uncertain significance 662271 rs1324740567 8:42171950-42171950 8:42314432-42314432
39 IKBKB NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile) SNV Uncertain significance 802402 rs1184918253 8:42176889-42176889 8:42319371-42319371
40 IKBKB NM_001556.3(IKBKB):c.318+6G>T SNV Uncertain significance 641287 rs17875678 8:42147797-42147797 8:42290279-42290279
41 IKBKB NM_001556.3(IKBKB):c.1235G>C (p.Cys412Ser) SNV Uncertain significance 933403 8:42175284-42175284 8:42317766-42317766
42 IKBKB NM_001556.3(IKBKB):c.1360G>A (p.Ala454Thr) SNV Uncertain significance 934210 8:42176189-42176189 8:42318671-42318671
43 IKBKB NM_001556.3(IKBKB):c.881A>G (p.Tyr294Cys) SNV Uncertain significance 936448 8:42173808-42173808 8:42316290-42316290
44 IKBKB NM_001556.3(IKBKB):c.1798A>G (p.Ser600Gly) SNV Uncertain significance 941166 8:42179631-42179631 8:42322113-42322113
45 IKBKB NM_001556.3(IKBKB):c.940A>G (p.Ile314Val) SNV Uncertain significance 941264 8:42174237-42174237 8:42316719-42316719
46 IKBKB NM_001556.3(IKBKB):c.902A>G (p.Lys301Arg) SNV Uncertain significance 942468 8:42173829-42173829 8:42316311-42316311
47 IKBKB NM_001556.3(IKBKB):c.461A>G (p.Gln154Arg) SNV Uncertain significance 948722 8:42162777-42162777 8:42305259-42305259
48 IKBKB NM_001556.3(IKBKB):c.1494C>T (p.Ser498=) SNV Uncertain significance 950185 8:42176917-42176917 8:42319399-42319399
49 IKBKB NM_001556.3(IKBKB):c.266A>G (p.Asn89Ser) SNV Uncertain significance 953597 8:42147739-42147739 8:42290221-42290221
50 IKBKB NM_001556.3(IKBKB):c.2224_2232dup (p.Leu742_Thr744dup) Duplication Uncertain significance 954741 8:42188448-42188449 8:42330930-42330931

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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