|
1
|
Geha RS, Notarangelo LD, Casanova JL,
Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD,
Puck JM, et al: Primary immunodeficiency diseases: An update from
the International Union of Immunological Societies Primary
Immunodeficiency Diseases Classification Committee. J Allergy Clin
Immunol. 120:776–794. 2007.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Tangye SG, Al-Herz W, Bousfiha A,
Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T,
Oksenhendler E, Picard C, et al: Human inborn errors of immunity:
2022 update on the classification from the International Union of
immunological societies expert committee. J Clin Immunol.
42:1473–1507. 2022.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Tangye SG, Al-Herz W, Bousfiha A,
Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T,
Oksenhendler E, Picard C, et al: The ever-increasing array of novel
inborn errors of immunity: An interim update by the IUIS committee.
J Clin Immunol. 41:666–679. 2021.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Erdős M, Mironska K, Kareva L, Stavric K,
Hasani A, Lányi Á, Kállai J and Maródi L: A novel mutation in
SLC39A7 identified in a patient with autosomal recessive
agammaglobulinemia. The impact of the J Project. Pediatr Allergy
Immunol. 33(e13805)2022.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Notarangelo LD: Primary
immunodeficiencies. J Allergy Clin Immunol. 125 (2 Suppl
2):S182–S194. 2010.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Boyle JM and Buckley RH: Population
prevalence of diagnosed primary immunodeficiency diseases in the
United States. J Clin Immunol. 27:497–502. 2007.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Bonilla FA, Khan DA, Ballas ZK, Chinen J,
Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, et
al: Practice parameter for the diagnosis and management of primary
immunodeficiency. J Allergy Clin Immunol. 136:1186–1205.e1-78.
2015.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Oliveira JB and Fleisher TA: Laboratory
evaluation of primary immunodeficiencies. J Allergy Clin Immunol.
125 (2 Suppl 2):S297–S305. 2010.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Shehata N, Palda V, Bowen T, Haddad E,
Issekutz TB, Mazer B, Schellenberg R, Warrington R, Easton D,
Anderson D and Hume H: The use of immunoglobulin therapy for
patients with primary immune deficiency: An evidence-based practice
guideline. Transfus Med Rev. 24 (Suppl 1):S28–S50. 2010.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Amaya-Uribe L, Rojas M, Azizi G, Anaya JM
and Gershwin ME: Primary immunodeficiency and autoimmunity: A
comprehensive review. J Autoimmun. 99:52–72. 2019.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Lam HY, Clark MJ, Chen R, Chen R,
Natsoulis G, O'Huallachain M, Dewey FE, Habegger L, Ashley EA,
Gerstein MB, et al: Performance comparison of whole-genome
sequencing platforms. Nat Biotechnol. 30:78–82. 2011.PubMed/NCBI View
Article : Google Scholar
|
|
12
|
El Hawary RE, Meshaal SS, Abd Elaziz DS,
Alkady R, Lotfy S, Eldash A, Erfan A, Chohayeb EA, Saad MM, Darwish
RK, et al: Genetic testing in Egyptian patients with inborn errors
of immunity: A single-center experience. J Clin Immunol.
42:1051–1070. 2022.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Rios JJ and Delgado MR: Using whole-exome
sequencing to identify variants inherited from mosaic parents. Eur
J Hum Genet. 23:547–550. 2015.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Arunachalam AK, Maddali M, Aboobacker FN,
Korula A, George B, Mathews V and Edison ES: Primary
immunodeficiencies in India: Molecular diagnosis and the role of
next-generation sequencing. J Clin Immunol. 41:393–413.
2021.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Lamborn I, Jing H, Zhang Y, Drutman SB,
Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, et al:
Recurrent rhinovirus infections in a child with inherited MDA5
deficiency. J Exp Med. 214:1949–1972. 2017.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Aghamohammadi A, Rezaei N, Yazdani R,
Delavari S, Kutukculer N, Topyildiz E, Ozen A, Baris S,
Karakoc-Aydiner E, Kilic SS, et al: Consensus Middle East and North
Africa Registry on inborn errors of immunity. J Clin Immunol.
41:1339–1351. 2021.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Aghamohammadi A, Mohammadinejad P,
Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, Parvaneh N,
Zeiaee V, Mirsaeed-Ghazi B, Chavoushzadeh Z, et al: Primary
immunodeficiency disorders in Iran: Update and new insights from
the third report of the national registry. J Clin Immunol.
34:478–490. 2014.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Abolhassani H, Kiaee F, Tavakol M,
Chavoshzadeh Z, Mahdaviani SA, Momen T, Yazdani R, Azizi G, Habibi
S, Gharagozlou M, et al: Fourth update on the Iranian National
registry of primary immunodeficiencies: Integration of molecular
diagnosis. J Clin Immunol. 38:816–832. 2018.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Abolhassani H, Azizi G, Sharifi L, Yazdani
R, Mohsenzadegan M, Delavari S, Sohani M, Shirmast P, Chavoshzadeh
Z, Mahdaviani SA, et al: Global systematic review of primary
immunodeficiency registries. Expert Rev Clin Immunol. 16:717–732.
2020.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Kilic SS, Ozel M, Hafizoglu D, Karaca NE,
Aksu G and Kutukculer N: The prevalances (Correction) and patient
characteristics of primary immunodeficiency diseases in Turkey-two
centers study. J Clin Immunol. 33:74–83. 2013.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Cheng J, Myers TG, Levinger C, Kumar P,
Kumar J, Goshu BA, Bosque A and Catalfamo M: IL-27 induces
IFN/STAT1-dependent genes and enhances function of TIGIT+
HIVGag-specific T cells. iScience. 25(103588)2022.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Kamiya S, Owaki T, Morishima N, Fukai F,
Mizuguchi J and Yoshimoto T: An indispensable role for STAT1 in
IL-27-induced T-bet expression but not proliferation of naive CD4+
T cells. J Immunol. 173:3871–3877. 2004.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Wang Y, Ma CS, Ling Y, Bousfiha A,
Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi
A, et al: Dual T cell- and B cell-intrinsic deficiency in humans
with biallelic RLTPR mutations. J Exp Med. 213:2413–2435.
2016.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Tolomeo M, Cavalli A and Cascio A: STAT1
and its crucial role in the control of viral infections. Int J Mol
Sci. 23(4095)2022.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Uzel G, Sampaio EP, Lawrence MG, Hsu AP,
Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E,
et al: Dominant gain-of-function STAT1 mutations in FOXP3 wild-type
immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like
syndrome. J Allergy Clin Immun. 31:1611–1623. 2013.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Sampaio EP, Hsu AP, Pechacek J, Bax HI,
Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding
L, et al: Signal transducer and activator of transcription 1
(STAT1) gain-of-function mutations and disseminated
coccidioidomycosis and histoplasmosis. J Allergy Clin Immunol.
131:1624–1634. 2013.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Tsumura M, Okada S, Sakai H, Yasunaga S,
Ohtsubo M, Murata T, Obata H, Yasumi T, Kong XF, Abhyankar A, et
al: Dominant-negative STAT1 SH2 domain mutations in unrelated
patients with Mendelian susceptibility to mycobacterial disease.
Hum Mutat. 33:1377–1387. 2012.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Frede N, Rojas-Restrepo J, Caballero
Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M,
Saghafi S, Chavoshzadeh Z, Soler-Palacin P, et al: Genetic analysis
of a cohort of 275 patients with Hyper-IgE syndromes and/or chronic
mucocutaneous candidiasis. J Clin Immunol. 41:1804–1838.
2021.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Lv G, Sun G, Wu P, Du X, Zeng T, Wen W,
Zhou L, An Y, Tang X, He T, et al: Novel mutations of TYK2 leading
to divergent clinical phenotypes. Pediatr Allergy Immunol.
33(e13671)2022.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Levy R, Okada S, Béziat V, Moriya K, Liu
C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, et al: Genetic,
immunological, and clinical features of patients with bacterial and
fungal infections due to inherited IL-17RA deficiency. Proc Natl
Acad Sci USA. 113:E8277–E8285. 2016.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Bonilla FA and Geha RS: Update on primary
immunodeficiency diseases. J Allergy Clin Immunol. 117:S435–S441.
2006.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Okada S, Puel A, Casanova JL and Kobayashi
M: Chronic mucocutaneous candidiasis disease associated with inborn
errors of IL-17 immunity. Clin Transl Immunology.
5(e114)2016.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Imai K, Slupphaug G, Lee WI, Revy P,
Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, et
al: Human uracil-DNA glycosylase deficiency associated with
profoundly impaired immunoglobulin class-switch recombination. Nat
Immunol. 4:1023–1028. 2003.PubMed/NCBI View
Article : Google Scholar
|
|
34
|
Garcia-Laorden MI, Sole-Violan J,
Rodriguez de Castro F, Aspa J, Briones ML, Garcia-Saavedra A, Rajas
O, Blanquer J, Caballero-Hidalgo A, Marcos-Ramos JA, et al:
Mannose-binding lectin and mannose-binding lectin-associated serine
protease 2 in susceptibility, severity, and outcome of pneumonia in
adults. J Allergy Clin Immunol. 122:368–374, 374.e1-2.
2008.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Ling Y, Cypowyj S, Aytekin C, Galicchio M,
Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy
R, et al: Inherited IL-17RC deficiency in patients with chronic
mucocutaneous candidiasis. J Exp Med. 212:619–631. 2015.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Miao J, Zhang J, Huang X, Wu N, Wu D and
Shen M: NLRP12-associated autoinflammatory disease in Chinese adult
patients: A single-centre study. RMD Open.
9(e003598)2023.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Wang W, Zhou Y, Zhong LQ, Li Z, Jian S,
Tang XY and Song HM: The clinical phenotype and genotype of
NLRP12-autoinflammatory disease: A Chinese case series with
literature review. World J Pediatr. 16:514–519. 2020.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Kingdom R and Wright CF: Incomplete
penetrance and variable expressivity: From clinical studies to
population cohorts. Front Genet. 25(920390)2022.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Zhang D, Su G, Hao S, Lai J and Feng S:
Paediatric autoimmune diseases with ELANE mutations associated with
neutropenia. Pediatr Rheumatol Online J. 21(41)2023.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Skokowa J, Germeshausen M, Zeidler C and
Welte K: Severe congenital neutropenia: Inheritance and
pathophysiology. Curr Opin Hematol. 14:22–28. 2007.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Ferreira RC, Pan-Hammarström Q, Graham RR,
Gateva V, Fontán G, Lee AT, Ortmann W, Urcelay E, Fernández-Arquero
M, Núñez C, et al: Association of IFIH1 and other autoimmunity risk
alleles with selective IgA deficiency. Nat Genet. 42:777–780.
2010.PubMed/NCBI View
Article : Google Scholar
|
|
42
|
Song J, Li M, Li C, Liu K, Zhu Y and Zhang
H: Friend or foe: RIG-I like receptors and diseases. Autoimmun Rev.
21(103161)2022.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Huang P, Wu JJ, Zhang JW, Hou YQ, Zhu P,
Yin R, Yu RB, Zhang Y, Yue M and Hou W: Genetic variants of IFIH1
and DHX58 affect the chronicity of hepatitis C in the Chinese Han
population. PeerJ. 11(e14740)2023.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Zhang J, Liu X, Meng Y, Wu H, Wu Y, Yang B
and Wang L: Autoimmune disease associated IFIH1 single nucleotide
polymorphism related with IL-18 serum levels in Chinese systemic
lupus erythematosus patients. Sci Rep. 8(9442)2018.PubMed/NCBI View Article : Google Scholar
|
|
45
|
Xiao W, Feng J, Long H, Xiao B and Luo ZH:
Case report: Aicardi-Goutières syndrome and singleton-merten
syndrome caused by a gain-of-function mutation in IFIH1. Front
Genet. 12(660953)2021.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Bursztejn AC, Briggs TA, del Toro Duany Y,
Anderson BH, O'Sullivan J, Williams SG, Bodemer C, Fraitag S,
Gebhard F, Leheup B, et al: Unusual cutaneous features associated
with a heterozygous gain-of-function mutation in IFIH1: Overlap
between Aicardi-Goutières and Singleton-Merten syndromes. Br J
Dermatol. 173:1505–1513. 2015.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Asgari S, Schlapbach LJ, Anchisi S, Hammer
C, Bartha I, Junier T, Mottet-Osman G, Posfay-Barbe KM, Longchamp
D, Stocker M, et al: Severe viral respiratory infections in
children with IFIH1 loss-of-function mutations. Proc Natl Acad Sci
USA. 114:8342–8347. 2017.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Cananzi M, Wohler E, Marzollo A, Colavito
D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, et al:
IFIH1 loss-of-function variants contribute to very early-onset
inflammatory bowel disease. Hum Genet. 140:1299–1312.
2021.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Shen M, Tang L, Shi X, Zeng X and Yao Q:
NLRP12 autoinflammatory disease: A Chinese case series and
literature review. Clin Rheum. 36:1661–1667. 2017.PubMed/NCBI View Article : Google Scholar
|
|
50
|
Gruber C and Bogunovic D: Incomplete
penetrance in primary immunodeficiency: A skeleton in the closet.
Hum Genet. 139:745–757. 2020.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Erzurumluoglu AM, Shihab HA, Rodriguez S,
Gaunt TR and Day IN: Importance of genetic studies in
consanguineous populations for the characterization of novel human
gene functions. Ann Hum Genet. 80:187–196. 2016.PubMed/NCBI View Article : Google Scholar
|
|
52
|
Rodríguez-Ubreva J, Calvillo CL, Satter LR
and Ballestar E: Interplay between epigenetic and genetic
alterations in inborn errors of immunity. Trends Immunol.
44:902–916. 2023.PubMed/NCBI View Article : Google Scholar
|
|
53
|
Peng XP, Al-Ddafari MS, Caballero-Oteyza
A, El Mezouar C, Mrovecova P, Dib SE, Massen Z, Smahi MC, Faiza A,
Hassaïne RT, et al: Next generation sequencing (NGS)-based approach
to diagnosing Algerian patients with suspected inborn errors of
immunity (IEIs). Clin Immunol. 256(109758)2023.PubMed/NCBI View Article : Google Scholar
|
|
54
|
Romano R, Cillo F, Moracas C, Pignata L,
Nannola C, Toriello E, De Rosa A, Cirillo E, Coppola E, Giardino G,
et al: Epigenetic alterations in inborn errors of immunity. J Clin
Med. 11(1261)2022.PubMed/NCBI View Article : Google Scholar
|
|
55
|
Isailovic N, Daigo K, Mantovani A and
Selmi C: Interleukin-17 and innate immunity in infections and
chronic inflammation. J Autoimmun. 60:1–11. 2015.PubMed/NCBI View Article : Google Scholar
|
