IMD15B
MCID: IMM195
MIFTS: 23

Immunodeficiency 15b (IMD15B)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 15b

MalaCards integrated aliases for Immunodeficiency 15b:

Name: Immunodeficiency 15b 56 73
Imd15b 56 73

Characteristics:

OMIM:

56
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:

OMIM 56 615592
OMIM Phenotypic Series 56 PS300755
MeSH 43 D016511

Summaries for Immunodeficiency 15b

OMIM : 56 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, b cells and bone marrow, and related phenotypes are failure to thrive and immunodeficiency

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:

56
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:

40
T Cells, B Cells, Bone Marrow, Bone, 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. 56 6
25216719 2014
2
Deficiency of innate and acquired immunity caused by an IKBKB mutation. 56 6
24369075 2013
3
Severe liver degeneration in mice lacking the IkappaB kinase 2 gene. 6 56
10195897 1999

Variations for Immunodeficiency 15b

ClinVar genetic disease variations for Immunodeficiency 15b:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IKBKB NM_001556.3(IKBKB):c.1292dup (p.Gln432fs)duplication Pathogenic 102445 rs886041036 8:42176117-42176118 8:42318599-42318600
2 IKBKB NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter)SNV Pathogenic 157663 rs200296680 8:42173741-42173741 8:42316223-42316223
3 IKBKB NM_001556.3(IKBKB):c.1336C>T (p.Arg446Trp)SNV Uncertain significance 577092 rs202136671 8:42176165-42176165 8:42318647-42318647
4 IKBKB NM_001556.3(IKBKB):c.1813G>T (p.Val605Leu)SNV Uncertain significance 579766 rs1563364138 8:42179646-42179646 8:42322128-42322128
5 IKBKB NM_001556.3(IKBKB):c.938A>G (p.His313Arg)SNV Uncertain significance 568054 rs141351312 8:42174235-42174235 8:42316717-42316717
6 IKBKB NM_001556.3(IKBKB):c.1466G>T (p.Ser489Ile)SNV Uncertain significance 802402 8:42176889-42176889 8:42319371-42319371
7 IKBKB NM_001556.3(IKBKB):c.752G>C (p.Gly251Ala)SNV Uncertain significance 852245 8:42171899-42171899 8:42314381-42314381
8 IKBKB NM_001556.3(IKBKB):c.757G>C (p.Val253Leu)SNV Uncertain significance 857272 8:42171904-42171904 8:42314386-42314386
9 IKBKB NM_001556.3(IKBKB):c.820G>A (p.Glu274Lys)SNV Uncertain significance 855158 8:42173747-42173747 8:42316229-42316229
10 IKBKB NM_001556.3(IKBKB):c.878C>T (p.Thr293Met)SNV Uncertain significance 841569 8:42173805-42173805 8:42316287-42316287
11 IKBKB NM_001556.3(IKBKB):c.1097C>T (p.Pro366Leu)SNV Uncertain significance 861970 8:42174394-42174394 8:42316876-42316876
12 IKBKB NM_001556.3(IKBKB):c.1120G>A (p.Gly374Ser)SNV Uncertain significance 856696 8:42174417-42174417 8:42316899-42316899
13 IKBKB NM_001556.3(IKBKB):c.1819G>A (p.Val607Met)SNV Uncertain significance 839133 8:42179652-42179652 8:42322134-42322134
14 IKBKB NM_001556.3(IKBKB):c.1986T>C (p.Cys662=)SNV Uncertain significance 838080 8:42180012-42180012 8:42322494-42322494
15 IKBKB NM_001556.3(IKBKB):c.2000G>C (p.Gly667Ala)SNV Uncertain significance 849631 8:42183501-42183501 8:42325983-42325983
16 IKBKB NM_001556.3(IKBKB):c.2204C>A (p.Thr735Lys)SNV Uncertain significance 852315 8:42186731-42186731 8:42329213-42329213
17 IKBKB NM_001556.3(IKBKB):c.2114+3A>GSNV Uncertain significance 862784 8:42183618-42183618 8:42326100-42326100
18 IKBKB NM_001556.3(IKBKB):c.718G>A (p.Glu240Lys)SNV Uncertain significance 474793 rs201052871 8:42171865-42171865 8:42314347-42314347
19 IKBKB NM_001556.3(IKBKB):c.509C>T (p.Ala170Val)SNV Uncertain significance 541642 rs1554518965 8:42163892-42163892 8:42306374-42306374
20 IKBKB NM_001556.3(IKBKB):c.1390T>C (p.Cys464Arg)SNV Uncertain significance 541640 rs141839189 8:42176813-42176813 8:42319295-42319295
21 IKBKB NM_001556.3(IKBKB):c.1669G>A (p.Gly557Arg)SNV Uncertain significance 541643 rs149701177 8:42178343-42178343 8:42320825-42320825
22 IKBKB NM_001556.3(IKBKB):c.2228A>T (p.Gln743Leu)SNV Uncertain significance 541641 rs201869683 8:42188454-42188454 8:42330936-42330936
23 IKBKB NM_001556.3(IKBKB):c.1819G>C (p.Val607Leu)SNV Uncertain significance 547913 rs764627236 8:42179652-42179652 8:42322134-42322134
24 IKBKB NM_001556.3(IKBKB):c.2087A>G (p.Asn696Ser)SNV Uncertain significance 547914 rs202226005 8:42183588-42183588 8:42326070-42326070
25 IKBKB NM_001556.3(IKBKB):c.402A>G (p.Arg134=)SNV Uncertain significance 570651 rs1255803017 8:42162718-42162718 8:42305200-42305200
26 IKBKB NM_001556.3(IKBKB):c.522T>G (p.Asp174Glu)SNV Uncertain significance 579568 rs749952717 8:42163905-42163905 8:42306387-42306387
27 IKBKB NM_001556.3(IKBKB):c.2119G>A (p.Glu707Lys)SNV Uncertain significance 646483 8:42186646-42186646 8:42329128-42329128
28 IKBKB NM_001556.3(IKBKB):c.2235_2237AGA[2] (p.Glu748del)short repeat Uncertain significance 658185 8:42188459-42188461 8:42330941-42330943
29 IKBKB NM_001556.3(IKBKB):c.1552G>A (p.Glu518Lys)SNV Uncertain significance 665841 8:42177138-42177138 8:42319620-42319620
30 IKBKB NM_001556.3(IKBKB):c.1676C>T (p.Thr559Met)SNV Uncertain significance 638981 8:42178350-42178350 8:42320832-42320832
31 IKBKB NM_001556.3(IKBKB):c.2078C>T (p.Thr693Met)SNV Uncertain significance 657184 8:42183579-42183579 8:42326061-42326061
32 IKBKB NM_001556.3(IKBKB):c.2079G>A (p.Thr693=)SNV Uncertain significance 641937 8:42183580-42183580 8:42326062-42326062
33 IKBKB NM_001556.3(IKBKB):c.230G>A (p.Arg77Gln)SNV Uncertain significance 663077 8:42147703-42147703 8:42290185-42290185
34 IKBKB NM_001556.3(IKBKB):c.353G>A (p.Arg118Gln)SNV Uncertain significance 650274 8:42150995-42150995 8:42293477-42293477
35 IKBKB NM_001556.3(IKBKB):c.700A>G (p.Lys234Glu)SNV Uncertain significance 658018 8:42171847-42171847 8:42314329-42314329
36 IKBKB NM_001556.3(IKBKB):c.1106A>G (p.Gln369Arg)SNV Uncertain significance 653915 8:42174403-42174403 8:42316885-42316885
37 IKBKB NM_001556.3(IKBKB):c.1190A>G (p.Tyr397Cys)SNV Uncertain significance 659810 8:42175239-42175239 8:42317721-42317721
38 IKBKB NM_001556.3(IKBKB):c.1238T>A (p.Ile413Asn)SNV Uncertain significance 666028 8:42175287-42175287 8:42317769-42317769
39 IKBKB NM_001556.3(IKBKB):c.1337G>A (p.Arg446Gln)SNV Uncertain significance 649552 8:42176166-42176166 8:42318648-42318648
40 IKBKB NM_001556.3(IKBKB):c.1519T>C (p.Ser507Pro)SNV Uncertain significance 654418 8:42177105-42177105 8:42319587-42319587
41 covers 14 genes, none of which curated to show dosage sensitivity NC_000008.10:g.(?_42128869)_(43054732_?)dupduplication Uncertain significance 648521 8:42128869-43054732
42 IKBKB NM_001556.3(IKBKB):c.318+6G>TSNV Uncertain significance 641287 8:42147797-42147797 8:42290279-42290279
43 IKBKB NM_001556.3(IKBKB):c.800+3A>GSNV Uncertain significance 662271 8:42171950-42171950 8:42314432-42314432
44 IKBKB NM_001556.3(IKBKB):c.941T>C (p.Ile314Thr)SNV Likely benign 577767 rs200044839 8:42174238-42174238 8:42316720-42316720
45 IKBKB NM_001556.3(IKBKB):c.1126-4G>ASNV Likely benign 541649 rs201394549 8:42175171-42175171 8:42317653-42317653
46 IKBKB NM_001556.3(IKBKB):c.738C>T (p.Ser246=)SNV Likely benign 541647 rs151151310 8:42171885-42171885 8:42314367-42314367
47 IKBKB NM_001556.3(IKBKB):c.1062G>T (p.Leu354=)SNV Likely benign 474787 rs145086380 8:42174359-42174359 8:42316841-42316841
48 IKBKB NM_001556.3(IKBKB):c.388+9C>TSNV Likely benign 541645 rs140937081 8:42151039-42151039 8:42293521-42293521
49 IKBKB NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp)SNV Likely benign 634580 rs753922163 8:42179959-42179959 8:42322441-42322441
50 IKBKB NM_001556.3(IKBKB):c.319-10T>CSNV Likely benign 712301 8:42150951-42150951 8:42293433-42293433

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

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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