MCID: IMM150
MIFTS: 18

Immunodeficiency 52

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 52

MalaCards integrated aliases for Immunodeficiency 52:

Name: Immunodeficiency 52 57 75 6
Imd52 57 75
Severe Combined Immunodeficiency Due to Lat Deficiency 59
Scid Due to Lat Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in early infancy
early death without bone marrow transplant
two unrelated consanguineous families have been reported (last curated june 2017)


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 617514
Orphanet 59 ORPHA504523
MeSH 44 D007153

Summaries for Immunodeficiency 52

OMIM : 57 IMD52 is an autosomal recessive primary immunodeficiency with variable manifestations, including severe combined immunodeficiency, hematologic autoimmune disorders, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy, and most die without bone marrow transplantation. The variable clinical features result from a defect in T-cell receptor signaling (summary by Keller et al., 2016 and Bacchelli et al., 2017). (617514)

MalaCards based summary : Immunodeficiency 52, is also known as imd52. An important gene associated with Immunodeficiency 52 is LAT (Linker For Activation Of T Cells). Affiliated tissues include t cells, bone marrow and bone.

UniProtKB/Swiss-Prot : 75 Immunodeficiency 52: An autosomal recessive primary immunodeficiency characterized by T- cell abnormalities, resulting in severe combined immunodeficiency, autoimmune disease, progressive lymphopenia and hypogammaglobulinemia, and lymphoproliferation with splenomegaly. Patients develop severe recurrent infections from infancy.

Related Diseases for Immunodeficiency 52

Symptoms & Phenotypes for Immunodeficiency 52

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Hematology:
hemolytic anemia
thrombocytopenia

Respiratory Lung:
chronic lung disease due to recurrent infections

AbdomenSpleen:
splenomegaly

Immunology:
recurrent infections
lymphadenopathy
hypogammaglobulinemia
decreased t cells
decreased b cells
more
Skin Nails Hair Skin:
red edematous skin nodules


Clinical features from OMIM:

617514

Drugs & Therapeutics for Immunodeficiency 52

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 52

Genetic Tests for Immunodeficiency 52

Anatomical Context for Immunodeficiency 52

MalaCards organs/tissues related to Immunodeficiency 52:

41
T Cells, Bone Marrow, Bone, B Cells, Skin, Lung, Nk Cells

Publications for Immunodeficiency 52

Variations for Immunodeficiency 52

ClinVar genetic disease variations for Immunodeficiency 52:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAT NM_001014987.1(LAT): c.268_269delGG (p.Gly90Leufs) deletion Pathogenic rs1114167434 GRCh37 Chromosome 16, 28997725: 28997726
2 LAT NM_001014987.1(LAT): c.268_269delGG (p.Gly90Leufs) deletion Pathogenic rs1114167434 GRCh38 Chromosome 16, 28986404: 28986405
3 LAT NM_014387.3(LAT): c.44_45insT (p.Leu16Alafs) insertion Pathogenic rs1131690791 GRCh38 Chromosome 16, 28985461: 28985462
4 LAT NM_014387.3(LAT): c.44_45insT (p.Leu16Alafs) insertion Pathogenic rs1131690791 GRCh37 Chromosome 16, 28996782: 28996783

Expression for Immunodeficiency 52

Search GEO for disease gene expression data for Immunodeficiency 52.

Pathways for Immunodeficiency 52

GO Terms for Immunodeficiency 52

Sources for Immunodeficiency 52

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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