Unbalanced Immune System: Immunodeficiencies and Autoimmunity [PDF]
, 2016 Increased risk of developing autoimmune manifestations has been identified in different primary immunodeficiencies (PIDs). In such conditions, autoimmunity and immune deficiency represent intertwined phenomena that reflect inadequate immune function ...
CAPALBO, DONATELLA +12 more
core +2 more sources
Induced CNS expression of CXCL1 augments neurologic disease in a murine model of multiple sclerosis via enhanced neutrophil recruitment. [PDF]
, 2018 Increasing evidence points to an important role for neutrophils in participating in the pathogenesis of the human demyelinating disease MS and the animal model EAE.
Doty, Daniel J +7 more
core +1 more source
Newborn Screening for SCID: Experience in Spain (Catalonia)
International Journal of Neonatal Screening, 2021 Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing.
Ana Argudo-Ramírez +14 more
doaj +1 more source
Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. [PDF]
, 2015 Adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) is characterized by impaired T-, B- and NK-cell function. Affected children, in addition to early onset of infections, manifest non-immunologic symptoms including pulmonary ...
Candotti, Fabio +6 more
core +2 more sources
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes [PDF]
, 2017 Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made ...
Bogaert, Delfien +13 more
core +2 more sources
Primary Immunodeficiencies [PDF]
, 2008 Primary immunodeficiencies (PIDs), once considered to be very rare, are now increasingly recognized because of growing knowledge in the immunological field and the availability of more sophisticated diagnostic techniques and therapeutic modalities [161].
Elizabeth Drewe, Richard Powell
openaire +2 more sources
Frontiers in Pediatrics, 2023 Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype.
Diana Simão Raimundo +8 more
doaj +1 more source
Primary vs. Secondary Antibody Deficiency: Clinical Features and Infection Outcomes of Immunoglobulin Replacement [PDF]
, 2014 Secondary antibody deficiency can occur as a result of haematological malignancies or certain medications, but not much is known about the clinical and immunological features of this group of patients as a whole. Here we describe a cohort of 167 patients
AA Bousfiha +55 more
core +3 more sources
Frontiers in Immunology, 2022 Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large
Clara Franco-Jarava +27 more
doaj +1 more source
Inborn errors of immunity at school: How can we do better?IEI at school [PDF]
Journal of Human ImmunityAdolescents with inborn errors of immunity face school challenges across adaptation, understanding, coordination, and socialization. In a multi-informant survey (patients, parents, teachers, and classmates), we found a lack of absenteeism protocols ...
Laura Lopez-Seguer +9 more
doaj +1 more source