IMD72
MCID: IMM228
MIFTS: 21

Immunodeficiency 72 with Autoinflammation (IMD72)

Categories: Genetic diseases, Immune diseases, Infectious diseases, Liver diseases

Aliases & Classifications for Immunodeficiency 72 with Autoinflammation

MalaCards integrated aliases for Immunodeficiency 72 with Autoinflammation:

Name: Immunodeficiency 72 with Autoinflammation 57 12 73 6
Imd72 57 73
Immunodeficiency 72 12

Characteristics:

OMIM®:

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

Miscellaneous:
highly variable phenotype
onset in the first year of life


HPO:

31
immunodeficiency 72 with autoinflammation:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0112015
OMIM® 57 618982
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
MedGen 41 CN283327

Summaries for Immunodeficiency 72 with Autoinflammation

OMIM® : 57 Immunodeficiency-72 with autoinflammation (IMD72) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections or systemic inflammation in the first year of life. Affected individuals develop bacterial and viral infections that can be severe, including bacteremia, recurrent pneumonia, and meningitis, consistent with an immunodeficiency. There is also an autoimmune and hyperinflammatory aspect to the disorder, manifest as atopy or allergies, hepatosplenomegaly, and lymphoproliferation. Immunologic workup shows variable abnormalities, including low or high Ig subsets, increased B cells, irregular T-cell activation and cytokine response, impaired immune synapse formation, and defective cellular migration. At the cellular level, these defects are related to abnormal F-actin polymerization and altered intracellular signaling (summary by Cook et al., 2020). (618982) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 72 with Autoinflammation, is also known as imd72. An important gene associated with Immunodeficiency 72 with Autoinflammation is NCKAP1L (NCK Associated Protein 1 Like). Affiliated tissues include b cells and t cells, and related phenotypes are lymphadenopathy and hepatosplenomegaly

Disease Ontology : 12 A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has material basis in homozygous or compound heterozygous mutation in NCKAP1L on chromosome 12q13.1-q13.2.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 72 with autoinflammation: An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly and lymphadenopathy, and autoimmune manifestations.

Related Diseases for Immunodeficiency 72 with Autoinflammation

Symptoms & Phenotypes for Immunodeficiency 72 with Autoinflammation

Human phenotypes related to Immunodeficiency 72 with Autoinflammation:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 lymphadenopathy 31 very rare (1%) HP:0002716
2 hepatosplenomegaly 31 very rare (1%) HP:0001433
3 bronchiectasis 31 very rare (1%) HP:0002110
4 increased circulating igg level 31 very rare (1%) HP:0003237
5 clubbing of fingers 31 very rare (1%) HP:0100759
6 increased b cell count 31 very rare (1%) HP:0005404
7 increased circulating ige level 31 very rare (1%) HP:0003212
8 molluscum contagiosum 31 very rare (1%) HP:0032163
9 herpes simplex encephalitis 31 very rare (1%) HP:0012302
10 increased proportion of memory t cells 31 very rare (1%) HP:0032184
11 recurrent otitis media 31 HP:0000403

Symptoms via clinical synopsis from OMIM®:

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

Immunology:
immunodeficiency
recurrent infections
lymphadenopathy
autoinflammation
increased ige
more
Neurologic Central Nervous System:
meningitis

Skin Nails Hair Skin:
atopic dermatitis
skin infections

Growth Other:
failure to thrive (in some patients)

Abdomen Liver:
hepatomegaly

Respiratory:
asthma
pneumonia
respiratory infections, recurrent

Respiratory Lung:
bronchiectasis

Head And Neck Ears:
otitis media, recurrent

Clinical features from OMIM®:

618982 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 72 with Autoinflammation

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 72 with Autoinflammation

Genetic Tests for Immunodeficiency 72 with Autoinflammation

Anatomical Context for Immunodeficiency 72 with Autoinflammation

MalaCards organs/tissues related to Immunodeficiency 72 with Autoinflammation:

40
B Cells, T Cells

Publications for Immunodeficiency 72 with Autoinflammation

Articles related to Immunodeficiency 72 with Autoinflammation:

# Title Authors PMID Year
1
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. 6 57
32647003 2020
2
A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic protein 1 in lymphopoiesis and innate immunity. 57
19015308 2008

Variations for Immunodeficiency 72 with Autoinflammation

ClinVar genetic disease variations for Immunodeficiency 72 with Autoinflammation:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCKAP1L NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) SNV Pathogenic 976846 12:54910757-54910757 12:54516973-54516973
2 NCKAP1L NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) SNV Pathogenic 976847 12:54913046-54913046 12:54519262-54519262
3 NCKAP1L NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) SNV Pathogenic 976848 12:54911332-54911332 12:54517548-54517548
4 NCKAP1L NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) SNV Pathogenic 976849 12:54905624-54905624 12:54511840-54511840

Expression for Immunodeficiency 72 with Autoinflammation

Search GEO for disease gene expression data for Immunodeficiency 72 with Autoinflammation.

Pathways for Immunodeficiency 72 with Autoinflammation

GO Terms for Immunodeficiency 72 with Autoinflammation

Sources for Immunodeficiency 72 with Autoinflammation

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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