IMD14B
MCID: IMM242
MIFTS: 14

Immunodeficiency 14b, Autosomal Recessive (IMD14B)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 14b, Autosomal Recessive

MalaCards integrated aliases for Immunodeficiency 14b, Autosomal Recessive:

Name: Immunodeficiency 14b, Autosomal Recessive 57 6
Imd14b 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
two unrelated consanguineous families have been reported (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 619281
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 14b, Autosomal Recessive

OMIM® : 57 Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by Sogkas et al., 2018 and Cohen et al., 2019). (619281) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 14b, Autosomal Recessive, is also known as imd14b. An important gene associated with Immunodeficiency 14b, Autosomal Recessive is PIK3CD (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta). Affiliated tissues include b cells.

Related Diseases for Immunodeficiency 14b, Autosomal Recessive

Symptoms & Phenotypes for Immunodeficiency 14b, Autosomal Recessive

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
osteomyelitis

Respiratory:
respiratory infections, recurrent

Abdomen Gastrointestinal:
diarrhea
inflammatory bowel disease
gastroenteritis

Immunology:
hypogammaglobulinemia
low-normal b cell levels
normal t cell levels
normal nk cell levels
impaired cellular cytotoxic immunity

Clinical features from OMIM®:

619281 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 14b, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 14b, Autosomal Recessive

Genetic Tests for Immunodeficiency 14b, Autosomal Recessive

Anatomical Context for Immunodeficiency 14b, Autosomal Recessive

MalaCards organs/tissues related to Immunodeficiency 14b, Autosomal Recessive:

40
B Cells

Publications for Immunodeficiency 14b, Autosomal Recessive

Articles related to Immunodeficiency 14b, Autosomal Recessive:

# Title Authors PMID Year
1
Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant. 57
30336224 2019
2
Primary immunodeficiency disorder caused by phosphoinositide 3-kinase δ deficiency. 57
30040974 2018

Variations for Immunodeficiency 14b, Autosomal Recessive

ClinVar genetic disease variations for Immunodeficiency 14b, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CD NM_005026.5(PIK3CD):c.1654del (p.Val552fs) Deletion Pathogenic 1064710 GRCh37: 1:9780931-9780931
GRCh38: 1:9720873-9720873
2 PIK3CD NM_005026.5(PIK3CD):c.2558_2559del (p.Asp853fs) Deletion Pathogenic 1064711 GRCh37: 1:9783314-9783315
GRCh38: 1:9723256-9723257

Expression for Immunodeficiency 14b, Autosomal Recessive

Search GEO for disease gene expression data for Immunodeficiency 14b, Autosomal Recessive.

Pathways for Immunodeficiency 14b, Autosomal Recessive

GO Terms for Immunodeficiency 14b, Autosomal Recessive

Sources for Immunodeficiency 14b, Autosomal Recessive

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....