Semantic Scholar Open Access 2021 57 sitasi

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

A. Aghamohammadi N. Rezaei R. Yazdani S. Delavari N. Kutukculer +134 lainnya

Lihat Sumber DOI

Abstrak

Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.

Topik & Kata Kunci

Medicine

Penulis (139)

A. Aghamohammadi

N. Rezaei

R. Yazdani

S. Delavari

N. Kutukculer

E. Topyıldız

A. Ozen

S. Barış

E. Karakoc‐Aydiner

S. Kilic

H. Kose

N. Gulez

F. Genel

I. Reisli

K. Djenouhat

Azzeddine Tahiat

R. Boukari

S. Ladj

Réda Belbouab

Y. Ferhani

B. Belaid

R. Djidjik

N. Kechout

N. Attal

Khalissa Saidani

R. Barbouche

A. Bousfiha

A. Sobh

Ragheed Rizk

M. Elnagdy

M. Al-Ahmed

S. Al-Tamemi

G. Nasrullayeva

M. Adeli

M. Al‐Nesf

A. Hassen

C. Mehawej

C. Irani

A. Mégarbané

J. Quinn

Zahra Seyed Alireza Mohammamd Marzieh Nasrin Tooba Ghola Chavoshzadeh Mahdaviani Nabavi Tavakol Behniafard

Z. Chavoshzadeh

S. Mahdaviani

M. Nabavi

M. Tavakol

N. Behniafard

Tooba Momen

G. Azizi

M. Bemanian

S. Arshi

Rasol Molatefi

R. Sherkat

A. Shirkani

R. Amin

S. Aleyasin

R. Faridhosseini

F. Jabbari-Azad

H. Ahanchian

M. Khoshkhui

A. Shafiei

A. Kalantari

I. Mohammadzadeh

J. Ghaffari

Taher. - Cheraghi

M. Mansouri

M. Mesdaghi

D. Babaie

M. Eslamian

Abbas Dabbaghzadeh

M. Tavassoli

R. Ghasemi

R. N. Kalmarzi

Seyed Hamidreza Mortazavi

S. Kashef

H. Esmaeilzadeh

Javad Tafaroji

A. Khalili

F. Zandieh

M. Sadeghi-shabestari

S. Darougar

F. Behmanesh

H. Akbari

M. Zandkarimi

F. Abolnezhadian

A. Fayezi

M. Torabizadeh

Mojgan Moghtaderi

H. Soheili

A. Ahmadiafshar

Behzad Shakerian

V. Sajedi

B. Taghvaei

M. Safari

M. Heidarzadeh

B. Ghalebaghi

S. M. Fathi

B. Darabi

Kian Darabi

Saeed Bazregari

N. Bazargan

M. Fallahpour

A. Khayatzadeh

Bahram Bashardoust

H. Sadri

M. Zamani

A. Mohsenzadeh

Sarehsadat Ebrahimi

R. Ghaemi

F. Z. Mehrjerdi

S. Sharafian

S. H. Nabavizadeh

Leila Baniadam

Fereshteh Salari

Mahsa Rekabi

Ahmad Vosughimotlagh

Mitra Tafakoridelbari

A. Pourvali

A. Rezaei

A. Hamidieh

M. Shariat

M. Gharagozlou

M. Movahedi

N. Parvaneh

N. Karaca

G. Aksu

S. B. Eltan

Nurhan Kasap

Burcu Kolukisa

A. Sefer

E. Yalçın

Royala Babayeva

Lydia Lamara Mahammed

A. Al-Khabaz

L. Maródi

V. Modell

F. Modell

W. Al-Herz

R. Geha

Hassan Abolhassani

Format Sitasi

APA MLA BibTeX

Aghamohammadi, A., Rezaei, N., Yazdani, R., Delavari, S., Kutukculer, N., Topyıldız, E. et al. (2021). Consensus Middle East and North Africa Registry on Inborn Errors of Immunity. https://doi.org/10.1007/s10875-021-01053-z

@article{aghamohammadi2021, author = {A. Aghamohammadi and N. Rezaei and R. Yazdani and S. Delavari and N. Kutukculer and E. Topyıldız and A. Ozen and S. Barış and E. Karakoc‐Aydiner and S. Kilic and H. Kose and N. Gulez and F. Genel and I. Reisli and K. Djenouhat and Azzeddine Tahiat and R. Boukari and S. Ladj and Réda Belbouab and Y. Ferhani and B. Belaid and R. Djidjik and N. Kechout and N. Attal and Khalissa Saidani and R. Barbouche and A. Bousfiha and A. Sobh and Ragheed Rizk and M. Elnagdy and M. Al-Ahmed and S. Al-Tamemi and G. Nasrullayeva and M. Adeli and M. Al‐Nesf and A. Hassen and C. Mehawej and C. Irani and A. Mégarbané and J. Quinn and Zahra Seyed Alireza Mohammamd Marzieh Nasrin Tooba Ghola Chavoshzadeh Mahdaviani Nabavi Tavakol Behniafard and Z. Chavoshzadeh and S. Mahdaviani and M. Nabavi and M. Tavakol and N. Behniafard and Tooba Momen and G. Azizi and M. Bemanian and S. Arshi and Rasol Molatefi and R. Sherkat and A. Shirkani and R. Amin and S. Aleyasin and R. Faridhosseini and F. Jabbari-Azad and H. Ahanchian and M. Khoshkhui and A. Shafiei and A. Kalantari and I. Mohammadzadeh and J. Ghaffari and Taher. - Cheraghi and M. Mansouri and M. Mesdaghi and D. Babaie and M. Eslamian and Abbas Dabbaghzadeh and M. Tavassoli and R. Ghasemi and R. N. Kalmarzi and Seyed Hamidreza Mortazavi and S. Kashef and H. Esmaeilzadeh and Javad Tafaroji and A. Khalili and F. Zandieh and M. Sadeghi-shabestari and S. Darougar and F. Behmanesh and H. Akbari and M. Zandkarimi and F. Abolnezhadian and A. Fayezi and M. Torabizadeh and Mojgan Moghtaderi and H. Soheili and A. Ahmadiafshar and Behzad Shakerian and V. Sajedi and B. Taghvaei and M. Safari and M. Heidarzadeh and B. Ghalebaghi and S. M. Fathi and B. Darabi and Kian Darabi and Saeed Bazregari and N. Bazargan and M. Fallahpour and A. Khayatzadeh and Bahram Bashardoust and H. Sadri and M. Zamani and A. Mohsenzadeh and Sarehsadat Ebrahimi and R. Ghaemi and F. Z. Mehrjerdi and S. Sharafian and S. H. Nabavizadeh and Leila Baniadam and Fereshteh Salari and Mahsa Rekabi and Ahmad Vosughimotlagh and Mitra Tafakoridelbari and A. Pourvali and A. Rezaei and A. Hamidieh and M. Shariat and M. Gharagozlou and M. Movahedi and N. Parvaneh and N. Karaca and G. Aksu and S. B. Eltan and Nurhan Kasap and Burcu Kolukisa and A. Sefer and E. Yalçın and Royala Babayeva and Lydia Lamara Mahammed and A. Al-Khabaz and L. Maródi and V. Modell and F. Modell and W. Al-Herz and R. Geha and Hassan Abolhassani}, title = {Consensus Middle East and North Africa Registry on Inborn Errors of Immunity}, year = {2021}, journal = {Semantic Scholar}, doi = {10.1007/s10875-021-01053-z}, url = {https://www.semanticscholar.org/paper/547e3f1daf0f561ec248dd0b94cf2de905c71969}, }

Akses Cepat

Lihat di Sumber doi.org/10.1007/s10875-021-01053-z

Informasi Jurnal

Tahun Terbit: 2021
Bahasa: en
Total Sitasi: 57×
Sumber Database: Semantic Scholar
DOI: 10.1007/s10875-021-01053-z
Akses: Open Access ✓