IMD74
MCID: IMM221
MIFTS: 22

Immunodeficiency 74, Covid19-Related, X-Linked (IMD74)

Categories: Genetic diseases, Immune diseases, Infectious diseases, Respiratory diseases

Aliases & Classifications for Immunodeficiency 74, Covid19-Related, X-Linked

MalaCards integrated aliases for Immunodeficiency 74, Covid19-Related, X-Linked:

Name: Immunodeficiency 74, Covid19-Related, X-Linked 57 73 6
Respiratory Insufficiency Due to Sars-Cov-2 Viral Infection 57 73
Tlr7 Deficiency 57 73
Imd74 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
onset precipitated by infection with sars-cov-2 virus
death from respiratory failure may occur
four young-adult males from 2 unrelated families have been reported (last curated august 2020)


HPO:

31
immunodeficiency 74, covid19-related, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM® 57 301051
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
MedGen 41 CN283338

Summaries for Immunodeficiency 74, Covid19-Related, X-Linked

OMIM® : 57 Immunodeficiency-74 (IMD74) is an X-linked recessive specific immunologic disorder characterized by the development of severe respiratory insufficiency in response to infection with the COVID19 coronavirus, also known as SARS-CoV-2 ssRNA coronavirus. Affected individuals usually require mechanical ventilation in the ICU in order to survive. Laboratory studies show activation of the immune response and may show perturbation of some values, such as increased D-dimers and fibrinogen. In vitro functional studies of patient immune cells show impaired signaling through the TLR7 pathway, resulting in defective type I and type II interferon (IFN) responses. The patients reported to date did not have a history of immunodeficiency or chronic disease (summary by van Der Made et al., 2020). (301051) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 74, Covid19-Related, X-Linked, also known as respiratory insufficiency due to sars-cov-2 viral infection, is related to x-linked immunodeficiency 74 and microvascular complications of diabetes 5. An important gene associated with Immunodeficiency 74, Covid19-Related, X-Linked is TLR7 (Toll Like Receptor 7). Affiliated tissues include b cells, and related phenotype is severe sars-cov-2 infection.

UniProtKB/Swiss-Prot : 73 Immunodeficiency 74, COVID19-related, X-linked: An X-linked recessive immunologic disorder characterized by the development of severe respiratory insufficiency in response to infection with SARS-CoV-2 coronavirus, and impaired type I and type II interferon responses due to defective TLR7 signaling. Death from respiratory failure may occur.

Related Diseases for Immunodeficiency 74, Covid19-Related, X-Linked

Diseases related to Immunodeficiency 74, Covid19-Related, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked immunodeficiency 74 11.0
2 microvascular complications of diabetes 5 9.8
3 japanese encephalitis 9.8
4 retinal vascular disease 9.8
5 encephalitis 9.8

Graphical network of the top 20 diseases related to Immunodeficiency 74, Covid19-Related, X-Linked:



Diseases related to Immunodeficiency 74, Covid19-Related, X-Linked

Symptoms & Phenotypes for Immunodeficiency 74, Covid19-Related, X-Linked

Human phenotypes related to Immunodeficiency 74, Covid19-Related, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 severe sars-cov-2 infection 31 very rare (1%) HP:0033141

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
vomiting
nausea

Respiratory:
dyspnea
cough
mechanical ventilation
respiratory failure due to covid19 (sars-cov-2) infection

Laboratory Abnormalities:
increased ferritin
increased c-reactive protein
increased d-dimers
increased fibrinogen

Immunology:
impaired tlr7 signaling
impaired type i and type ii ifn responses due to defective tlr7 signaling
decreased gamma-ifn production via the tlr7 signaling pathway

Metabolic Features:
fever

Muscle Soft Tissue:
myalgias

Respiratory Lung:
pulmonary consolidations on chest radiographs
ground-glass opacities
dense infiltrates

Clinical features from OMIM®:

301051 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 74, Covid19-Related, X-Linked

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 74, Covid19-Related, X-Linked

Genetic Tests for Immunodeficiency 74, Covid19-Related, X-Linked

Anatomical Context for Immunodeficiency 74, Covid19-Related, X-Linked

MalaCards organs/tissues related to Immunodeficiency 74, Covid19-Related, X-Linked:

40
B Cells

Publications for Immunodeficiency 74, Covid19-Related, X-Linked

Articles related to Immunodeficiency 74, Covid19-Related, X-Linked:

(show all 20)
# Title Authors PMID Year
1
Presence of Genetic Variants Among Young Men With Severe COVID-19. 6
32706371 2020
2
Toll-like receptor 7 deficiency suppresses type 1 diabetes development by modulating B-cell differentiation and function. 61
33432061 2021
3
TLR7 Negatively Regulates B10 Cells Predominantly in an IFN╬│ Signaling Dependent Manner. 61
32849556 2020
4
Toll-like receptor 7 deficiency promotes survival and reduces adverse left ventricular remodelling after myocardial infarction. 61
30830156 2019
5
Toll-Like Receptor 7 Enhances Rabies Virus-Induced Humoral Immunity by Facilitating the Formation of Germinal Centers. 61
30906301 2019
6
TLR7 deficiency contributes to attenuated diabetic retinopathy via inhibition of inflammatory response. 61
28843858 2017
7
Toll-like receptor 7 deficiency protects apolipoprotein E-deficient mice from diet-induced atherosclerosis. 61
28405010 2017
8
TLR7 Deficiency Leads to TLR8 Compensative Regulation of Immune Response against JEV in Mice. 61
28265274 2017
9
Toll-like Receptor 7 Is Reduced in Severe Asthma and Linked to an Altered MicroRNA Profile. 61
26815632 2016
10
Toll-Like Receptor-Dependent Immune Complex Activation of B Cells and Dendritic Cells. 61
26803634 2016
11
B cell-intrinsic TLR7 signaling is essential for the development of spontaneous germinal centers. 61
25252960 2014
12
Evaluating the role of nucleic acid antigens in murine models of systemic lupus erythematosus. 61
24957237 2014
13
TLR8 on dendritic cells and TLR9 on B cells restrain TLR7-mediated spontaneous autoimmunity in C57BL/6 mice. 61
24474776 2014
14
Toll-like receptor 7 gene deficiency and early-life Pneumovirus infection interact to predispose toward the development of asthma-like pathology in mice. 61
23561801 2013
15
Toll-like receptor 7 suppresses virus replication in neurons but does not affect viral pathogenesis in a mouse model of Langat virus infection. 61
23136362 2013
16
Investigation of the role of endosomal Toll-like receptors in murine collagen-induced arthritis reveals a potential role for TLR7 in disease maintenance. 61
22691272 2012
17
Respiratory virus-induced TLR7 activation controls IL-17-associated increased mucus via IL-23 regulation. 61
20624950 2010
18
Interactions between TLR7 and TLR9 agonists and receptors regulate innate immune responses by astrocytes and microglia. 61
19998480 2010
19
TLR9 regulates TLR7- and MyD88-dependent autoantibody production and disease in a murine model of lupus. 61
20089701 2010
20
Toll-like receptor-dependent immune complex activation of B cells and dendritic cells. 61
19378022 2009

Variations for Immunodeficiency 74, Covid19-Related, X-Linked

ClinVar genetic disease variations for Immunodeficiency 74, Covid19-Related, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TLR7 NM_016562.4(TLR7):c.2129_2132del (p.Gln710fs) Deletion Pathogenic 977232 X:12905756-12905759 X:12887637-12887640
2 TLR7 NM_016562.4(TLR7):c.2383G>T (p.Val795Phe) SNV Pathogenic 977233 X:12906010-12906010 X:12887891-12887891

Expression for Immunodeficiency 74, Covid19-Related, X-Linked

Search GEO for disease gene expression data for Immunodeficiency 74, Covid19-Related, X-Linked.

Pathways for Immunodeficiency 74, Covid19-Related, X-Linked

GO Terms for Immunodeficiency 74, Covid19-Related, X-Linked

Sources for Immunodeficiency 74, Covid19-Related, X-Linked

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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