IMD75
MCID: IMM232
MIFTS: 21

Immunodeficiency 75 (IMD75)

Categories: Blood diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 75

MalaCards integrated aliases for Immunodeficiency 75:

Name: Immunodeficiency 75 57 29 6
Imd75 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first years of life
death in childhood may occur
three patients from 2 unrelated consanguineous families have been reported (last curated december 2020)


HPO:

31
immunodeficiency 75:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 619126
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 75

OMIM® : 57 Immunodeficiency-75 (IMD75) is an autosomal recessive immunologic disorder characterized by immunodeficiency, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. Affected individuals usually present in infancy with severe and recurrent infections, mainly viral and affecting the respiratory tract. Some patients may have autoimmune cytopenias, anemia, or thrombocytopenia. Patients also develop hepatosplenomegaly, lymphadenopathy, lymphoproliferative disorders, and various types of T- or B-cell lymphomas. Immunologic work-up shows decreased class-switched B cells, impaired B-cell terminal differentiation, and hypo- or hypergammaglobulinemia. There is skewed differentiation and dysregulation of T cells, as well as possibly disrupted hematopoiesis. Additional features include failure to thrive and global developmental delay. The phenotype may be reminiscent of ALPS (601859), including laboratory evidence of impaired Fas-dependent T-cell apoptosis. Although hematopoietic stem cell transplantation may be effective treatment, many patients die in childhood (summary by Stremenova Spegarova et al., 2020). (619126) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 75, also known as imd75, is related to plasma cell neoplasm and myeloma, multiple. An important gene associated with Immunodeficiency 75 is TET2 (Tet Methylcytosine Dioxygenase 2). Affiliated tissues include b cells, t cells and myeloid, and related phenotypes are recurrent respiratory infections and lymphoma

Related Diseases for Immunodeficiency 75

Diseases related to Immunodeficiency 75 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 plasma cell neoplasm 9.6 TET2-AS1 TET2
2 myeloma, multiple 9.5 TET2-AS1 TET2

Symptoms & Phenotypes for Immunodeficiency 75

Human phenotypes related to Immunodeficiency 75:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 very rare (1%) HP:0002205
2 lymphoma 31 very rare (1%) HP:0002665
3 moderate global developmental delay 31 very rare (1%) HP:0011343
4 hepatosplenomegaly 31 very rare (1%) HP:0001433
5 bronchiectasis 31 very rare (1%) HP:0002110
6 persistent ebv viremia 31 very rare (1%) HP:0020072
7 decreased proportion of class-switched memory b cells 31 very rare (1%) HP:0030388
8 follicular hyperplasia 31 HP:0002729

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Hematology:
anemia
thrombocytopenia
autoimmune cytopenia (in some patients)

Respiratory:
respiratory infections, recurrent

Neoplasia:
lymphoma, b-cell, ebv-associated
lymphoma, t-cell

Immunology:
immunodeficiency
lymphadenopathy
immune dysregulation
hypogammaglobulinemia
hypergammaglobulinemia
more
Respiratory Lung:
bronchiectasis

Neurologic Central Nervous System:
developmental delay, moderate

Clinical features from OMIM®:

619126 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 75

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 75

Genetic Tests for Immunodeficiency 75

Genetic tests related to Immunodeficiency 75:

# Genetic test Affiliating Genes
1 Immunodeficiency 75 29 TET2

Anatomical Context for Immunodeficiency 75

MalaCards organs/tissues related to Immunodeficiency 75:

40
B Cells, T Cells, Myeloid

Publications for Immunodeficiency 75

Articles related to Immunodeficiency 75:

(showing 2, show less)
# Title Authors PMID Year
1
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. 57 6
32518946 2020
2
Deletion of Tet2 in mice leads to dysregulated hematopoietic stem cells and subsequent development of myeloid malignancies. 57
21803851 2011

Variations for Immunodeficiency 75

ClinVar genetic disease variations for Immunodeficiency 75:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TET2-AS1 , TET2 NM_001127208.3(TET2):c.4894C>T (p.Gln1632Ter) SNV Pathogenic 989406 GRCh37: 4:106196561-106196561
GRCh38: 4:105275404-105275404
2 TET2-AS1 , TET2 NM_001127208.3(TET2):c.4145A>G (p.His1382Arg) SNV Pathogenic 430399 rs1131691943 GRCh37: 4:106190867-106190867
GRCh38: 4:105269710-105269710

Expression for Immunodeficiency 75

Search GEO for disease gene expression data for Immunodeficiency 75.

Pathways for Immunodeficiency 75

GO Terms for Immunodeficiency 75

Sources for Immunodeficiency 75

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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