Results 41 to 50 of about 1,076,152 (158)

Current Approach to Primary Immunodeficiency Diseases

Southern Clinics of Istanbul Eurasia, 2019
Primary immunodeficiency diseases (PIDD) are inherited disorders resulting from defects in diverse elements of the human immune system. Currently, more than 330 PIDDs have been described, and the molecular (genetic) bases for more than 320 of them are ...
Öner Özdemir
doaj   +1 more source

Predominantly antibody deficiency: case report

Revista Brasileira de Saúde Materno Infantil, 2023
Objectives: present a case of Inborn errors of immunity (IEI) as a potential diagnosis in pediatric patients with recurrent infections. Description: male patient, 13 years old, since he was eight months old had recurrent diarrhea, sinusitis, otitis ...
Louyse Jerônimo de Morais, Beatriz Brasileiro de Macedo Silva, Luís Alfredo Cezar Brito, Luíza Alcântara Pontes de Lemos, Matheus Soares Lustosa, Rafaela Ribeiro D’Azevedo Carneiro, Renata de Cerqueira Paes Correa Lima, Tainá Gomes Aragão, Veriana Márcia da Nóbrega   +8 more
doaj   +2 more sources

Autoinflammatory disease syndrome of hyperimmunoglobulinemia D

Медицинский вестник Юга России, 2022
Objective: present a clinical case of a rare autoinflammatory disease. Materials and methods: an analysis of a clinical case of mevalonate kinase deficiency syndrome in an 8-year-old girl was carried out.
T. M. Somova
doaj   +1 more source

Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice

Journal of Clinical Immunology, 2017
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious ...
Jovanka R. King, L. Hammarström
semanticscholar   +1 more source

Safety and tolerability of subcutaneous immunoglobulin 20% in primary immunodeficiency diseases from two continents.

Immunotherapy, 2019
Aim: This pooled analysis evaluated the safety and tolerability of the subcutaneous immunoglobulin 20% product, Ig20Gly, in primary immunodeficiency diseases using data from two Phase II/III studies conducted in North America and Europe.
D. Suez, G. Kriván, S. Jolles, M. Stein, Sudhir Gupta, K. Paris, P. V. van Hagen, N. Brodszki, W. Engl, H. Leibl, B. McCoy, L. Yel   +11 more
semanticscholar   +1 more source

Family physician perspectives on primary immunodeficiency diseases

Frontiers in Medicine, 2016
Primary immunodeficiency diseases (PID) include over 250 diverse disorders. The current study assessed management of PID by family practice physicians.
Jordan eOrange, Filiz O. Seeborg, Vivian eHernandez-Trujillo, Christopher eScalchunes, Marcia eBoyle   +4 more
doaj   +1 more source

Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients

Iranian Journal of Allergy, Asthma and Immunology, 2021
Common variable immunodeficiency (CVID) is the most prevalent form of symptomatic primary humoral immunodeficiencies characterized by failure in the final differentiation of B lymphocytes. The majority of CVID cases have no identified genetic defect, and
Zahra Hamidi Esfahani, Reza Yazdani, Sepideh Shahkarami, Fateme Babaha, Hassan Abolhassani, Maryam Sadr, Ali Akbar Pourfathollah, Asghar Aghamohammadi   +7 more
doaj   +1 more source

Subjective assessment of sleep quality in adult patients with hereditary angioedema

Frontiers in Neurology
BackgroundHereditary angioedema (HAE) is a rare disorder characterized by recurrent swelling episodes, including painful abdominal attacks and life-threatening angioedema of the larynx that significantly affects patients’ quality of life, including sleep.
Esra Karabiber, Ezgi Yalçın Güngören, Ezgi Yalçın Güngören, Ezgi Yalçın Güngören, Ahmet Özen, Ahmet Özen, Ahmet Özen, Safa Barış, Safa Barış, Safa Barış, Elif Karakoc-Aydiner, Elif Karakoc-Aydiner, Elif Karakoc-Aydiner   +12 more
doaj   +1 more source

Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data

Allergy. European Journal of Allergy and Clinical Immunology, 2018
Primary immunodeficiency diseases (PIDs) are characterized by an increased risk of infections, autoimmunity, autoinflammation, malignancy, and allergic disorders.
J. de Wit, Romke J K Brada, Joyce van Veldhuizen, V. A. Dalm, S. Pasmans   +4 more
semanticscholar   +1 more source

Defective germinal center selection results in persistence of self-reactive B cells from the primary to the secondary repertoire in Primary Antiphospholipid Syndrome

Nature Communications
Primary antiphospholipid syndrome (PAPS) is a life-threatening clotting disorder mediated by pathogenic autoantibodies. Here we dissect the origin of self-reactive B cells in human PAPS using peripheral blood and bone marrow of patients with triple ...
Yannick Dieudonné, Raquel Lorenzetti, Julien Rottura, Iga Janowska, Quentin Frenger, Léa Jacquel, Olivier Vollmer, Francesco Carbone, Zhu Chengsong, Marine Luka, Sabine Depauw, Nadège Wadier, Stéphane Giorgiutti, Benoît Nespola, Agathe Herb, Reinhard Edmund Voll, Aurélien Guffroy, Vincent Poindron, Mickaël Ménager, Thierry Martin, Pauline Soulas-Sprauel, Marta Rizzi, Anne-Sophie Korganow, Vincent Gies   +23 more
doaj   +1 more source