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

Subjects: “…primary immunodeficiency…”
Get full text

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.…”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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…”
Get full text

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. …”
Get full text

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

Subjects: Get full text

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…”
Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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

Subjects: Get full text

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…”
Get full text

Fatal Cholestatic Hepatitis in an Infant: An Unusual Etiology by Mark R Oliver, Alfredo Pinto, R Brent Scott

“…Recognition of the combination of adenoviral infection with underlying primary immunodeficiency is a prerequisite to the provision of genetic counselling.…”
Get full text

Measles neutralising antibody levels in patients receiving intravenous immunoglobulin treatment - a sub-analysis of a randomized, cross-over bioequivalence trial. by Vatsala Rajendram, Martyn Paddick, John More

“…There is limited data on measles antibody trough levels in treated primary immunodeficiency patients. The aim of this sub-analysis was to evaluate the measles antibody trough levels in treated primary immunodeficiency patients.…”
Get full text

Cryptosporidiosis in a Zoonotic Gastrointestinal Disorder Perspective by Thivya Balendran, Devika Iddawela, Sajanee Lenadora

“…Cryptosporidium infection is highly prevalent among immunocompromised patients with Acquired Immunodeficiency Syndrome, cancer, primary immunodeficiency, and organ transplant recipients. …”
Get full text

Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager by Panagiota Karananou, Anastasia Alataki, Efimia Papadopoulou-Alataki

“…Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency. It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways. …”
Get full text

Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature by Tatyana Gavrilova, Ari Zelig, Diana H. Lee

“…Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. …”
Get full text

A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings by Tinsae Alemayehu, Solomie Jebessa Deribessa

“…Background. Cellular primary immunodeficiencies are rarely reported from Africa. …”
Get full text