Browsing by Author "Aghamohammadi, Asghar"

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    Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study
    (Wiley, 2019-06-01) Janssen, Lisanne M. A.; van Hout, Roeland W. N. M.; de Vries, Esther; Pignata, Claudio; Cirillo, Emilia; Arkwright, Peter D.; Lougaris, Vassilos; Buckland, Matthew; Garcia-Prat, Marina; Soler-Palacin, Pere; Ouederni, Monia; Kralickova, Pavlina; Abolhassani, Hassan; Hammerstroem, Lennart; Aghamohammadi, Asghar; Santos-Perez, Juan L.; Sobh, Ali; ten Bosch, Jutte van de Werff; Henriet, Stefanie; Kılıç, Sara S.; Karalı, Yasin; Ignacio Gonzalez-Granado, Luis; Sediva, Anna; SIMcal Consortium; KILIÇ GÜLTEKİN, SARA ŞEBNEM; KARALI, YASİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmunoloji Anabilim Dalı.; AAH-1658-2021; FFS-1974-2022
    The clinical consequences of isolated decreased serum immunoglobulin (Ig)M are not sufficiently known. Therefore, it is difficult to determine the clinical policy following such a finding. Only few reported IgM-deficient patients fulfil the European Society for Immunodeficiencies (ESID) diagnostic criteria for selective IgM deficiency (true sIgMdef), or their diagnosis is uncertain due to insufficient laboratory data (possible sIgMdef). Decreased serum IgM is often incidentally found in asymptomatic adults. The objective of our study was to further characterize true sIgMdef and to compare the European data collected through the ESID Registry community (tertiary centres) to our previously published Dutch cohort (secondary centre). Fifteen centres (12 countries) participated with 98 patients. Patients were excluded if serum IgM was only determined once (n = 14), had normalized (n = 8), or if they also had other immunological abnormalities (n = 15). Ten patients (5 adults) completely fulfilled the ESID criteria for true sIgMdef. Age-matched cut-off values varied widely between centres; when using the ESID diagnostic protocol reference values, only six patients (five adults) had true sIgMdef. Because of these small numbers, further analyses were performed in patients with true or possible sIgMdef (13 adults, 48 children). Respiratory infections were commonly reported at presentation (adults 54%, children 60%). Symptomatic adults had lower serum IgM levels (mean 0.27 g/L, 95% CI 0.22-0.31) than those without symptoms (mean 0.33 g/L, 95% CI 0.30-0.36; P = 0.02). To be able to explore the clinical consequences of true sIgMdef, we should fully analyse and accurately describe those patients in whom a decreased serum IgM is found.
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    Consensus Middle East and North Africa registry on inborn errors of immunity
    (Springer/plenum Publishers, 2021-05-29) Aghamohammadi, Asghar; Rezaei, Nima; Yazdani, Reza; Delavari, Samaneh; Kutukculer, Necil; Topyildiz, Ezgi; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Kose, Hulya; Gulez, Nesrin; Genel, Ferah; Reisli, Ismail; Djenouhat, Kamel; Tahiat, Azzeddine; Boukari, Rachida; Ladj, Samir; Belbouab, Reda; Ferhani, Yacine; Belaid, Brahim; Djidjik, Reda; Kechout, Nadia; Attal, Nabila; Saidani, Khalissa; Barbouche, Ridha; Bousfiha, Aziz; Sobh, Ali; Rizk, Ragheed; Elnagdy, Marwa H.; Al-Ahmed, Mona; Al-Tamemi, Salem; Nasrullayeva, Gulnara; Adeli, Mehdi; Al-Nesf, Maryam; Hassen, Amel; Mehawej, Cybel; Irani, Carla; Megarbane, Andre; Quinn, Jessica; Marodi, Laszlo; Modell, Vicki; Modell, Fred; Al-Herz, Waleed; Geha, Raif S.; Abolhassani, Hassan; Kilic, Sara Sebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0002-9454-1603; 0000-0001-6390-1074; 0000-0002-6338-6946; 0000-0002-8403-6128; 0000-0003-4150-5200; 0000-0001-8571-2581; 0000-0002-3343-6949; 0000-0001-8247-6405; 0000-0001-7047-076X; 0000-0002-7232-2629; 0000-0002-3051-3080; 0000-0001-9354-0214; 0000-0002-7209-9359; 0000-0002-7706-3910; 0000-0003-0714-2469; 0000-0002-6019-3751; 0000-0002-7394-1640; Q-6160-2016; IWD-5692-2023; B-4167-2009; R-6749-2017; ABD-5574-2021; HOF-7252-2023; AAH-1658-2021; ABF-5609-2020; AFU-4460-2022; JVE-0572-2024; GMX-2732-2022; IQU-2494-2023; KLE-3682-2024; HKN-1599-2023; B-3465-2014; HHT-0915-2022; IZE-1770-2023; P-3381-2019; T-7687-2017; AFF-7478-2022; M-4655-2018; F-5958-2017; N-5668-2017
    Background 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. Methods 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. Results 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). Conclusions 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.