IMD52
MCID: IMM150
MIFTS: 24

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 57 12 72 29 6
Imd52 57 12 72
Severe Combined Immunodeficiency Due to Lat Deficiency 12 58
Scid Due to Lat Deficiency 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

Disease Ontology 12 DOID:0111983
OMIM® 57 617514
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
Orphanet 58 ORPHA504523
UMLS 70 C4479588

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) (Updated 20-May-2021)

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 bone marrow, bone and t cells, and related phenotypes are failure to thrive and splenomegaly

Disease Ontology : 12 A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has material basis in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.

UniProtKB/Swiss-Prot : 72 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 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 splenomegaly 31 HP:0001744
3 immunodeficiency 31 HP:0002721
4 thrombocytopenia 31 HP:0001873
5 hemolytic anemia 31 HP:0001878
6 recurrent infections 31 HP:0002719
7 lymphadenopathy 31 HP:0002716
8 immune dysregulation 31 HP:0002958
9 chronic lung disease 31 HP:0006528
10 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Hematology:
thrombocytopenia
hemolytic anemia

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 (Updated 20-May-2021)

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

Publications for Immunodeficiency 52

Articles related to Immunodeficiency 52:

(showing 6, show less)
# Title Authors PMID Year
1
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. 6 57
27522155 2017
2
Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT. 57 6
27242165 2016
3
Induction of T helper type 2 immunity by a point mutation in the LAT adaptor. 57
12065839 2002
4
A LAT mutation that inhibits T cell development yet induces lymphoproliferation. 57
12065840 2002
5
Essential role of LAT in T cell development. 57
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 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAT NM_001014987.2(LAT):c.268_269del (p.Gly90fs) Deletion Pathogenic 427750 rs781410769 GRCh37: 16:28997722-28997723
GRCh38: 16:28986401-28986402
2 LAT NM_001014987.2(LAT):c.44dup (p.Leu16fs) Duplication Pathogenic 427751 rs1555524788 GRCh37: 16:28996781-28996782
GRCh38: 16:28985460-28985461
3 LAT NM_001014989.2(LAT):c.52dup (p.Ala18fs) Duplication Pathogenic 1031728 GRCh37: 16:28996226-28996227
GRCh38: 16:28984905-28984906
4 LAT NM_001014987.2(LAT):c.422C>T (p.Pro141Leu) SNV Uncertain significance 1028939 GRCh37: 16:28998143-28998143
GRCh38: 16:28986822-28986822

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
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
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