Whole exome analysis of primary immunodeficiency by E. S. Rahmani, Н. Azarpara, M. Karimipoor, Н. Rahimi

Subjects: “…primary immunodeficiency…”
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Inborn errors of immunity (primary immunodeficiencies) by Vy H. D. Kim, Julia E. M. Upton, Beata Derfalvi, Kyla J. Hildebrand, Christine McCusker

“…Abstract Primary immunodeficiencies (PID), now often referred to as inborn errors of immunity (IEI), are a large heterogeneous group of disorders that result from deficiencies in immune system development and/or function. …”
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Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency by Funda Erol Çipe, Cigdem Aydogmus, Arzu Babayigit Hocaoglu, Merve Kilic, Gul Demet Kaya, Elif Yilmaz Gulec

“…In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases.…”
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The Value of Family History in Diagnosing Primary Immunodeficiency Disorders by Mohamed A. Hendaus, Ahmad Alhammadi, Mehdi M. Adeli, Fawzia Al-Yafei

“…Eliciting proper family medical history is critical in decreasing morbidity and mortality in patients with primary immunodeficiency disorders (PIDs). Communities with a common practice of consanguinity have a high rate of PIDs. …”
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Respiratory Syncytial Virus Infections in Infants Affected by Primary Immunodeficiency by Marcello Lanari, Silvia Vandini, Maria Grazia Capretti, Tiziana Lazzarotto, Giacomo Faldella

“…Primary immunodeficiencies are rare inherited disorders that may lead to frequent and often severe acute respiratory infections. …”
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Alarm sings for primary immunodeficiency diagnosis. A proposal adapted to the Cienfuegos province by Yosvany Castillo Leyva, Alain Alonso Remedios, Grace de Lara García, Daynelis Pardo Martínez, Albert Vera Razumova

“…<br /><strong>Objective:</strong> to establish the alarm signs for a primary immunodeficiency diagnosis, that will be a referral criterion in the province of Cienfuegos. …”
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Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report by Irfan Ali Shera, Sheikh Mudassir Khurshid, Mohd Shafi Bhat

“…Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. …”
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Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

Subjects: “…primary immunodeficiencies…”
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Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience by Georg Evers, Arik Bernard Schulze, Michael Thrull, Jan-Philipp Hering, Christoph Schülke, Rainer Wiewrodt, Helmut Wittkowski, Lars Henning Schmidt, Michael Mohr

“…Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. …”
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Progress Research in the Immune-Actinopathies and Pathogenic Genes by MA Shiyun, ZHOU Lina, AN Yunfei, ZHAO Xiaodong

Subjects: “…primary immunodeficiency disease…”
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SARS-CoV-2 excretion and genetic evolution in nasopharyngeal and stool samples from primary immunodeficiency and immunocompetent pediatric patients by Haifa Khemiri, Ilhem Ben Fraj, Alessio Lorusso, Najla Mekki, Iolanda Mangone, Mariem Gdoura, Adriano Di Pasqual, Cesare Cammà, Valeria Di Lollo, Asma Cherni, Henda Touzi, Amel Sadraoui, Zina Meddeb, Nahed Hogga, Imen Ben Mustapha, Mohamed-Ridha Barbouche, Monia Ouederni, Henda Triki, Sondes Haddad-Boubaker

Subjects: “…Primary immunodeficiency…”
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From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia by Mónica Fernandes Pineda, Andrés F. Zea-Vera

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Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature by Nayan Patel Sureja, Liza Rajasekhar

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Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency by Sebastián Gutiérrez-Hincapié, Julio César Orrego, José Luis Franco, Claudia M. Trujillo-Vargas

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Recurrent opportunistic infections in a HIV-negative patient with combined C6 and NFKB1 mutations: A case report, pedigree analysis, and literature review by Zheng Yamei, Guan Liwen, Li Jiao, Fu Yihui

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Pulmonary Complications of Monogenic Patients with Common Variable Immunodeficiency: COVID-19 Perspectives by Samaneh Delavari, Marzie Esmaeili, Fereshte Salami, Seyed Erfan Rasouli, Saba Fekrvand, Mahsa Yousefpour Marzbali, Nazanin Fathi, Hassan Abolhassani

Subjects: “…primary immunodeficiency…”
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Relationship between the switched memory B level and clinical course of coronavirus disease 2019 in patients with common variable immunodeficiency by Filiz Sadi Aykan, Fatih Çölkesen, Eray Yıldız, Mehmet Kılınç, Recep Evcen, Şevket Arslan

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Historical Perspective of Inborn Errors of Immunity in Turkey by Yıldız Camcıoğlu

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Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations by LI Linpeng, MA Jing, GU Hao, SHU Zhou, MAO Huawei

Subjects: “…primary immunodeficiency disease…”
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Definition of clinical immunology around the globe by José C. Crispín, José C. Crispín, José C. Crispín, Tineke Cantaert, Tineke Cantaert, Alberto Pinzon-Charry, Alberto Pinzon-Charry, Alberto Pinzon-Charry, Domenico Mavilio, Domenico Mavilio, Domenico Mavilio, Ahmed Seri, Ahmed Seri, Pierre Miossec, Pierre Miossec

Subjects: “…inborn errors of immunity/primary immunodeficiencies…”
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