An innate immune defect is a defect in the innate immune response that reduces the response to infection, this can occurs in genes important for activation regulation and proliferation of the innate immune cells or pathways important for the function of innate immunity. The purpose of this study was to identify novel biomarkers of interferon Receptor 7 through bioinformatics analysis and elucidate the possible molecular mechanism. The GSE 66486 datasets containing microarray data from IRF7 and UNC93B patients and healthy controls were downloaded from the GEO database and analyzed by the GEO2R web tool to obtain different expressed genes (DEGs). Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis, protein-protein interaction (PPI), and Biological Networks Gene Oncology tool (BiNGO) were then performed to elucidate the molecular mechanism of IRF7. A total of 490 DEGs were identified, of which 14 were hub genes, and involved in ribosome biogenesis, rRNA processing, gene expression, mRNA processing, nuclear lumen, intracellular non-membrane-bounded organelle, nucleoplasm, small-subunit processome, antigen processing and presentation pathway, and ribosome biogenesis in eukaryotes. Antigen processing and presentation pathway, and ribosome biogenesis in eukaryotes possibly form the basis of IRF7 or UNC93B disorders, while our study provides a list of genes and pathways that are disrupted in IRF7/UNC93B, which has the potential to be used in the clinic for diagnosis and targeted therapy of such disorders in future.

1.
T. H
Mogensen
,
Front. Immunol.
8
(
9
),
3047
(
2019
)
2.
G.
Bucciol
,
L.
Moens
,
B.
Bosch
,
X.
Bossuyt
,
J Allergy Clin Immunol.
143
(
2
),
507
527
(
2019
).
3.
R. D
Jhamnani
,
S. D
Rosenzweig
,
Curr. Opin. Allergy. Clin. Immunol.
17
(
6
),
391
397
(
2017
).
4.
W.
Li
,
M. J
Hofer
,
S. R
Jung
,
S.
Lim
, and
I. L
Campbell
,
J. Virol.
88
(
13
),
7578
7588
(
2014
).
5.
T.
Taniguchi
,
K.
Ogasawara
,
A.
Takaoka
, and
N.
Tanaka
,
Annu. Rev. Immunol.
19
(
1
),
623
655
(
2001
).
6.
T.
Kawai
, and
S.
Akira
,
Nat. Immunol
7
(
2
),
11
16
. (
2006
).
7.
A. S.
Fauci
,
J. Infect. Dis
1
(
194
),
S73
76
(
2006
).
8.
B.
Hatesuer
,
T.
Thu
,
P.
Riese
,
S.
Trittel
,
I.
Gerhauser
,
H.
Elbahesh
,
R.
Geffers
,
E.
Wilk
, and
K.
Schughart
,
J. Innate. Immun.
9
(
2
),
145
161
(
2017
).
9.
T.
Kawai
, and
S.
Akira
,
Nat. Pub. Group
11
(
5
),
373
384
(
2010
).
10.
H.
Kumar
,
T.
Kawai
, and
S.
Akira
,
Int. Rev. Immunol
30
(
1
),
16
34
(
2011
).
11.
A. R
Gennery
, and
A. J
Cant
,
J. Clin. Pathol
54
(
3
),
191
195
(
2001
).
12.
V.
Bigley
,
M.
Haniffa
,
S.
Doulatov
,
X.
Wang
,
R.
Dickinson
,
N.
Mcgovern
,
M.
Collin
 et al.,
J. Exp. Med
208
(
2
),
227
234
(
2011
).
13.
S.
Ning
,
J. S
Pagano
, and
G. N
Barber
,
Genes & Immunity
12
(
6
),
399
414
(
2011
).
14.
J.
He
,
Q.
Yang
,
Q.
Xiao
,
A.
Lei
,
X.
Li
,
P.
Zhou
,
J.
Zhou
,
Cell. Rep Cell
29
(
9
),
2718
2730
(
2019
).
15.
M. R
Edwards
,
N.
Regamey
,
M.
Vareille
,
E.
Kieninger
,
A.
Gupta
,
A.
Shoemark
, and
S. L
Johnston
,
Mucosal Immunol
6
(
4
),
797
806
(
2012
).
16.
K.
Tabeta
,
K.
Hoebe
,
E.M
Janssen
,
X.
Du
,
P.
Georgel
,
K.
Crozat
, et al.,
Nat. Immunol
7
,
156
164
(
2006
).
17.
M. B
Mielcarska
,
M.
Bossowska-Nowicka
, and
F. N
Toka
,
J. Neuroimmunol
316
,
65
73
(
2018
).
18.
E.
Meylan
, and
J.
Tschopp
,
Mol Cell
22
(
5
),
561
569
(
2006
).
19.
A.
Casrouge
,
S.Y
Zhang
,
C.
Eidenschenk
,
E.
Jouanguy
,
A.
Puel
,
K.
Yang
,
J. L
Casanova
 et al.,
Science
314
(
5797
),
308
312
(
2006
).
20.
D. W
Huang
,
B. T
Sherman
,
Q.
Tan
 et al.,
Genome. Biol
8
(
9
),
R183
(
2007
).
21.
S.
Maere
,
K.
Heymans
, and
M.
Kuiper
,
Bioinformatics
15
;
21(16)
,
3448
3449
(
2005
).
22.
M. J
Ciancanelli
,
S. X
Huang
,
P.
Luthra
,
H.
Garner
,
Y.
Itan
,
S.
Volpi
 et al.,
Science
348
(
6233
),
448
453
(
2015
).
23.
M. J
Ciancanelli
,
L.
Abel
,
S.Y
Zhang
, and
J. L
Casanova
,
Curr. Opin. Immunol
38
,
109
120
(
2016
).
24.
M. E
Conley
,
Trends. Immunol
28
(
3
),
99
101
(
2007
).
25.
P.
Mittal
,
R.
Romero
,
J. P
Kusanovic
,
S. S
Edwin
,
F.
Gotsch
 et al.,
Am. J. Reprod. Immunol
60
(
3
),
246
257
(
2008
).
26.
M.
Salem
,
J. T
Mony
,
M.
Løbner
,
R.
Khorooshi
, and
T.
Owens
,
J Neuroinflammation
8
(
1
),
181
(
2011
).
27.
I. L
Tourkova
,
G. V
Shurin
,
S.
Ferrone
, and
M. R
Shurin
,
Immunotherapy
58
(
4
),
567
574
(
2008
).
28.
D.
Goubau
,
R.
Romieu-Mourez
,
M.
Solis
,
E.
Hernandez
,
T.
Mesplède
,
R.
Lin
,
J.
Hiscott
,
Eur. J. Immunol
39
(
2
),
527
540
(
2009
).
29.
M.
Embgenbroich
, and
S.
Burgdorf
,
Front. Immunol
9
,
1643
(
2018
).
30.
Z.
Turi
,
M.
Lacey
,
M.
Mistrik
,
P.
Moudry
,
Aging
11
(
8
),
2512
2540
(
2018
).
31.
C.
Bianco
, and
I.
Mohr
,
Elife
8
,
49551
(
2019
).
32.
T.
Vulliamy
,
R.
Beswick
,
M.
Kirwan
,
A.
Marrone
,
M.
Digweed
,
A.
Walne
, and
I.
Dokal
,
Proc. Natl. Acad. Sci. U S A
105
(
23
),
8073
8078
(
2008
).
33.
S. A
Savage
,
B. P
Alter
,
Hematol. Oncol. Clin. North. Am
(
2
),
215
231
(
2009
).
34.
T. C
Lin
,
C. Y
Su
,
P.Y
Wu
,
T. C
Lai
,
W. A
Pan
 et al.,
Elife
5
,
e11288
2016
35.
R. J
Lund
,
Z.
Chen
,
J.
Scheinin
, and
R.
Lahesmaa
,
J. Immunol
172
(
11
),
6775
6782
(
2004
).
36.
Z.
Chen
,
G.
Liu
,
G.
Liu
,
M.A.
Bolkov
,
K.
Shinwari
,
I.A.
Tuzankina
,
V.A.
Chereshnev
,
Z.
Wang
,
Hereditas
158
,
1
,
1
12
(
2021
).
This content is only available via PDF.
You do not currently have access to this content.