IMD52
MCID: IMM150
MIFTS: 23

Immunodeficiency 52 (IMD52)

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

Aliases & Classifications for Immunodeficiency 52

MalaCards integrated aliases for Immunodeficiency 52:

Name: Immunodeficiency 52 56 73 29 6
Imd52 56 73
Severe Combined Immunodeficiency Due to Lat Deficiency 58
Scid Due to Lat Deficiency 58

Characteristics:

OMIM:

56
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)


HPO:

31
immunodeficiency 52:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 617514
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
Orphanet 58 ORPHA504523

Summaries for Immunodeficiency 52

OMIM : 56 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 and bone marrow, and related phenotypes are failure to thrive and splenomegaly

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Immunodeficiency 52:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 splenomegaly 31 HP:0001744
3 immunodeficiency 31 HP:0002721
4 hemolytic anemia 31 HP:0001878
5 thrombocytopenia 31 HP:0001873
6 decreased antibody level in blood 31 HP:0004313
7 recurrent infections 31 HP:0002719
8 lymphadenopathy 31 HP:0002716
9 chronic lung disease 31 HP:0006528
10 immune dysregulation 31 HP:0002958

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Hematology:
hemolytic anemia
thrombocytopenia

Respiratory Lung:
chronic lung disease due to recurrent infections

Abdomen Spleen:
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

Genetic tests related to Immunodeficiency 52:

# Genetic test Affiliating Genes
1 Immunodeficiency 52 29 LAT

Anatomical Context for Immunodeficiency 52

MalaCards organs/tissues related to Immunodeficiency 52:

40
T Cells, Bone, Bone Marrow, Lung, Skin, Nk Cells, B Cells

Publications for Immunodeficiency 52

Articles related to Immunodeficiency 52:

# Title Authors PMID Year
1
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. 56 6
27522155 2017
2
Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT. 56 6
27242165 2016
3
Induction of T helper type 2 immunity by a point mutation in the LAT adaptor. 56
12065839 2002
4
A LAT mutation that inhibits T cell development yet induces lymphoproliferation. 56
12065840 2002
5
Essential role of LAT in T cell development. 56
10204488 1999
6
Transient elevation of serum IgE after allogeneic bone-marrow transplantation. 61
3305375 1987

Variations for Immunodeficiency 52

ClinVar genetic disease variations for Immunodeficiency 52:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAT NM_001014987.2(LAT):c.268_269del (p.Gly90fs)deletion Pathogenic 427750 rs781410769 16:28997722-28997723 16:28986401-28986402
2 LAT NM_001014987.2(LAT):c.44dup (p.Leu16fs)duplication Pathogenic 427751 rs1555524788 16:28996781-28996782 16:28985460-28985461

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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