Journal of Translational Autoimmunity, 2021 Background: Knowledge about COVID-19 infections is expanding, although knowledge about the disease course and antibody formation in patients with an auto-immune disease or immunodeficiency is not fully unraveled yet.
Niels A.D. Guchelaar +10 more
doaj +1 more source
Coordinated Response to Imported Vaccine-Derived Poliovirus Infection, Barcelona, Spain, 2019–2020
Emerging Infectious Diseases, 2021 In 2019, the Public Health Agency of Barcelona, Spain, was notified of a vaccine-derived poliovirus infection. The patient had an underlying common variable immunodeficiency and no signs of acute flaccid paralysis.
Dolores Álamo-Junquera +15 more
doaj +1 more source
Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review
Journal of Pediatrics Review, 2015 Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease.
Kobra Shiasi Arani
doaj +3 more sources
DiGeorge Syndrome: a not so rare disease
Clinics, 2010 INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life.
Angela BF Fomin +5 more
doaj +1 more source
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies
Jornal de Pediatria, 2021 Objectives: To rescue medical genetics concepts that are necessary to understand the advances in the genetic-molecular characterization of primary immunodeficiencies, to help in the understanding and adequate interpretation of their results.
Gesmar Rodrigues Silva Segundo
doaj +1 more source
Gammaglobulin for primary immunodeficiency: when should it be used?
Medicina, 2014 Antibodies are an essential component of the adaptative immune response and hold long-term memory of the immunological experiences throughout life. Antibody defects represent approximately half of the well-known primary immunodeficiencies requiring ...
Pérsio Roxo-Junior
doaj +1 more source
Zinc Metabolism: A Review with Regard to Zn Finger Proteins, DNA Methylation and p53; In Reference to its Deficiency Syndromes and Tracing its Immunological as Well as Epigenetic Relations [PDF]
, 2022 Kashif Abbas +3 more
openalex +2 more sources
Characteristics of Good's Syndrome in China: A Systematic Review
Chinese Medical Journal, 2017 Background: Good's syndrome (GS) is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4+/CD8+ T-cell ratio and reduced T-cell mitogen proliferative responses.
Jin-Pei Dong +4 more
doaj +1 more source
Proteomic investigation and biomarker identification of lung and spleen deficiency syndrome in HIV/AIDS immunological nonresponders [PDF]
, 2023 Yi‐Ting Wang +10 more
openalex +3 more sources
NEUROENDOCRINE TUMOR IN A CHILD WITH COMMON VARIABLE IMMUNODEFICIENCY
Revista Paulista de PediatriaObjective: To report a case of a child with primary immunodeficiency who at eight years developed digestive symptoms, culminating with the diagnosis of a neuroendocrine tumor at ten years of age.
Pedro de Souza Lucarelli Antunes +5 more
doaj +2 more sources