IMD78
MCID: IMM237
MIFTS: 19

Immunodeficiency 78 with Autoimmunity and Developmental Delay (IMD78)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 78 with Autoimmunity and Developmental Delay

MalaCards integrated aliases for Immunodeficiency 78 with Autoimmunity and Developmental Delay:

Name: Immunodeficiency 78 with Autoimmunity and Developmental Delay 57 6
Tpp2 Deficiency 57
Imd78 57

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
onset in infancy or early childhood
variable immunologic features


Classifications:



External Ids:

OMIM® 57 619220
OMIM Phenotypic Series 57 PS300755

Summaries for Immunodeficiency 78 with Autoimmunity and Developmental Delay

OMIM® : 57 Immunodeficiency-78 with autoimmunity and developmental delay (IMD78) is an autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. Many patients die prematurely, but successful hematopoietic bone marrow transplant may be curative (summary by Lu et al., 2014 and Atallah et al., 2021). (619220) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 78 with Autoimmunity and Developmental Delay, is also known as tpp2 deficiency. An important gene associated with Immunodeficiency 78 with Autoimmunity and Developmental Delay is TPP2 (Tripeptidyl Peptidase 2). Affiliated tissues include bone marrow, t cells and b cells.

Related Diseases for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Symptoms & Phenotypes for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Cardiovascular Vascular:
stroke
intracranial vasculitis

Head And Neck Nose:
nasal polyposis
bulbous nasal tip

Respiratory Lung:
bronchiectasis

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities

Skin Nails Hair Skin:
dermatitis
livedo reticularis
cutaneous vasculitis
dermohypodermitis
cutaneous papillomavirus infections

Growth Other:
poor growth

Head And Neck Face:
facial dysmorphism, nonspecific (in some patients)

Endocrine Features:
autoimmune thyroid disease (in some patients)

Immunology:
immunodeficiency
lymphadenopathy
immune dysregulation
autoimmune disorders
decreased nk cells
more
Neurologic Central Nervous System:
stroke
developmental delay
intracranial calcifications
speech delay
learning disabilities
more
Hematology:
pancytopenia
autoimmune hemolytic anemia
autoimmune thrombocytopenia

Skin Nails Hair Nails:
paronychia
brittle nails

Head And Neck Ears:
conductive hearing loss
protruding ears
otitis media, recurrent

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
alopecia (in some patients)

Abdomen Liver:
autoimmune hepatitis (in some patients)

Clinical features from OMIM®:

619220 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Genetic Tests for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Anatomical Context for Immunodeficiency 78 with Autoimmunity and Developmental Delay

MalaCards organs/tissues related to Immunodeficiency 78 with Autoimmunity and Developmental Delay:

40
Bone Marrow, T Cells, B Cells, Thyroid, Nk Cells

Publications for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Articles related to Immunodeficiency 78 with Autoimmunity and Developmental Delay:

# Title Authors PMID Year
1
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. 6 57 61
25414442 2015
2
Dual proteolytic pathways govern glycolysis and immune competence. 6 57
25525876 2014
3
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene. 57 61
33586135 2021
4
Activation of cellular death programs associated with immunosenescence-like phenotype in TPPII knockout mice. 57
18362329 2008

Variations for Immunodeficiency 78 with Autoimmunity and Developmental Delay

ClinVar genetic disease variations for Immunodeficiency 78 with Autoimmunity and Developmental Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPP2 NM_001330588.2(TPP2):c.2394-550_2952+659del Deletion Pathogenic 995805 GRCh37: 13:103298090-103302491
GRCh38: 13:102645740-102650141
2 TPP2 NM_001330588.2(TPP2):c.2343C>G (p.Tyr781Ter) SNV Pathogenic 1027537 GRCh37: 13:103297309-103297309
GRCh38: 13:102644959-102644959
3 TPP2 NM_001330588.2(TPP2):c.1499G>A (p.Gly500Asp) SNV Pathogenic 1027538 GRCh37: 13:103288042-103288042
GRCh38: 13:102635692-102635692
4 TPP2 NM_001330588.2(TPP2):c.433del (p.Ala145fs) Deletion Pathogenic 1027539 GRCh37: 13:103268787-103268787
GRCh38: 13:102616437-102616437

Expression for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Search GEO for disease gene expression data for Immunodeficiency 78 with Autoimmunity and Developmental Delay.

Pathways for Immunodeficiency 78 with Autoimmunity and Developmental Delay

GO Terms for Immunodeficiency 78 with Autoimmunity and Developmental Delay

Sources for Immunodeficiency 78 with Autoimmunity and Developmental Delay

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
Content
Loading form....