Global systematic review of primary immunodeficiency registries

Affiliations


Abstract

Introduction: During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear.

Areas covered: Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients.

Expert opinion: Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.

Keywords: Primary immunodeficiencies; burden of disease; ethnicity; molecular diagnosis; prevalence.


Similar articles

The Kuwait National Primary Immunodeficiency Registry 2004-2018.

Al-Herz W, Al-Ahmad M, Al-Khabaz A, Husain A, Sadek A, Othman Y.Front Immunol. 2019 Jul 24;10:1754. doi: 10.3389/fimmu.2019.01754. eCollection 2019.PMID: 31396239 Free PMC article. Clinical Trial.

The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index.

Nordin J, Solís L, Prévot J, Mahlaoui N, Chapel H, Sánchez-Ramón S, Ali A, Seymour JW, Pergent M.Front Immunol. 2021 Nov 18;12:780140. doi: 10.3389/fimmu.2021.780140. eCollection 2021.PMID: 34868053 Free PMC article.

Primary immunodeficiency in Africa - a review.

Erjaee A, Bagherpour M, Van Rooyen C, Van den Berg S, Kinnear CJ, Green RJ, Pepper M.S Afr Med J. 2019 Sep 10;109(8b):3-11. doi: 10.7196/SAMJ.2019.v109i8b.13820.PMID: 31662142 Review.

Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979-2020.

Abd Hamid IJ, Azman NA, Gennery AR, Mangantig E, Hashim IF, Zainudeen ZT.Front Immunol. 2020 Aug 26;11:1923. doi: 10.3389/fimmu.2020.01923. eCollection 2020.PMID: 32983118 Free PMC article.

Primary Immunodeficiencies in Russia: Data From the National Registry.

Mukhina AA, Kuzmenko NB, Rodina YA, Kondratenko IV, Bologov AA, Latysheva TV, Prodeus AP, Pampura AN, Balashov DN, Ilyina NI, Latysheva EA, Deordieva EA, Shvets OA, Deripapa EV, Abramova IN, Pashenko OE, Vahlyarskaya SS, Zinovyeva NV, Zimin SB, Skorobogatova EV, Machneva EB, Fomina DS, Ipatova MG, Barycheva LY, Khachirova LS, Tuzankina IA, Bolkov MA, Shakhova NV, Kamaltynova EM, Sibgatullina FI, Guseva MN, Kuznetsova RN, Milichkina AM, Totolian AA, Kalinina NM, Goltsman EA, Sulima EI, Kutlyanceva AY, Moiseeva AA, Khoreva AL, Nesterenko Z, Tymofeeva EV, Ermakova A, Proligina DD, Kalmetieva LR, Davletbaieva GA, Mirsayapova IA, Richkova OA, Kuzmicheva KP, Grakhova MA, Yudina NB, Orlova EA, Selezneva OS, Piskunova SG, Samofalova TV, Bukina TV, Pechkurova AD, Migacheva N, Zhestkov A, Barmina EV, Parfenova NA, Isakova SN, Averina EV, Sazonova IV, Starikova SY, Shilova TV, Asekretova TV, Suprun RN, Kleshchenko EI, Lebedev VV, Demikhova EV, Demikhov VG, Kalinkina VA, Gorenkova AV, Duryagina SN, Pavlova TB, Shinkareva VM, Smoleva IV, Aleksandrova TP, Bambaeva ZV, Philippova MA, Gracheva EM, Tcyvkina GI, Efremenkov AV, Mashkovskaya D, Yarovaya IV, Alekseenko VA, Fisyun IV, Molokova GV, Troi…See abstract for full author list ➔Front Immunol. 2020 Aug 6;11:1491. doi: 10.3389/fimmu.2020.01491. eCollection 2020.PMID: 32849507 Free PMC article.


Cited by

Health-Related Quality of Life of Patients and Families with Primary Immunodeficiency in Malaysia: a Cross-Sectional Study.

Ahmed Meelad R, Abd Hamid IJ, Zainudeen ZT, Hashim IF, Azizuddin MNA, Mangantig E, Taib F, Mohamad N, Ismail IH, Abdul Latiff AH, Mohd Noh L.J Clin Immunol. 2023 Mar 7:1-8. doi: 10.1007/s10875-023-01463-1. Online ahead of print.PMID: 36882668 Free PMC article.

Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity.

Delavari S, Wang Y, Moeini Shad T, Pashangzadeh S, Nazari F, Salami F, Abolhassani H.Cancers (Basel). 2023 Jan 26;15(3):764. doi: 10.3390/cancers15030764.PMID: 36765721 Free PMC article.

Subjective sleep quality and fatigue assessment in Polish adult patients with primary immunodeficiencies: A pilot study.

Grochowalska K, Ziętkiewicz M, Więsik-Szewczyk E, Matyja-Bednarczyk A, Napiórkowska-Baran K, Nowicka-Sauer K, Hajduk A, Sołdacki D, Zdrojewski Z.Front Immunol. 2023 Jan 13;13:1028890. doi: 10.3389/fimmu.2022.1028890. eCollection 2022.PMID: 36713442 Free PMC article.

Clinical Outcome of Coronavirus Disease 2019 in Patients with Primary Antibody Deficiencies.

Milota T, Smetanova J, Bartunkova J.Pathogens. 2023 Jan 9;12(1):109. doi: 10.3390/pathogens12010109.PMID: 36678457 Free PMC article. Review.

Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021.

Abolhassani H, Avcin T, Bahceciler N, Balashov D, Bata Z, Bataneant M, Belevtsev M, Bernatowska E, Bidló J, Blazsó P, Boisson B, Bolkov M, Bondarenko A, Boyarchuk O, Bundschu A, Casanova JL, Chernishova L, Ciznar P, Csürke I, Erdős M, Farkas H, Fomina DS, Galal N, Goda V, Guner SN, Hauser P, Ilyina NI, Iremadze T, Iritsyan S, Ismaili-Jaha V, Jesenak M, Kelecic J, Keles S, Kindle G, Kondratenko IV, Kostyuchenko L, Kovzel E, Kriván G, Kuli-Lito G, Kumánovics G, Kurjane N, Latysheva EA, Latysheva TV, Lázár I, Markelj G, Markovic M, Maródi L, Mammadova V, Medvecz M, Miltner N, Mironska K, Modell F, Modell V, Mosdósi B, Mukhina AA, Murdjeva M, Műzes G, Nabieva U, Nasrullayeva G, Naumova E, Nagy K, Onozó B, Orozbekova B, Pac M, Pagava K, Pampura AN, Pasic S, Petrosyan M, Petrovic G, Pocek L, Prodeus AP, Reisli I, Ress K, Rezaei N, Rodina YA, Rumyantsev AG, Sciuca S, Sediva A, Serban M, Sharapova S, Shcherbina A, Sitkauskiene B, Snimshchikova I, Spahiu-Konjusha S, Szolnoky M, Szűcs G, Toplak N, Tóth B, Tsyvkina G, Tuzankina I, Vlasova E, Volokha A.Front Immunol. 2022 Dec 16;13:1032358. doi: 10.3389/fimmu.2022.1032358. eCollection 2022.PMID: 36605210 Free PMC article.


References

https://pubmed.ncbi.nlm.nih.gov/