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PRIMARY IMMUNE DEFICIENCIES – PRINCIPLES OF CARE
Primary Immune Deficiencies (PIDs) are a growing group of over 230 different disorders caused by ineffective, absent or an increasing number of gain of function mutations in immune components (mainly cells and proteins).
Helen eChapel +7 more
doaj +1 more source
The velocity of the COVID-19 pandemic spread and the variable severity of the disease course has forced scientists to search for potential predictors of the disease outcome.
Anna Bobcakova +10 more
doaj +1 more source
The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index
A global gold standard framework for primary immunodeficiency (PID) care, structured around six principles, was published in 2014. To measure the implementation status of these principles IPOPI developed the PID Life Index in 2020, an interactive tool ...
Julia Nordin +12 more
doaj +1 more source
Primary immunodeficiencies and their associated risk of malignancies in children: an overview. [PDF]
Primary immunodeficiency disorders represent a heterogeneous spectrum of diseases, predisposing to recurrent infections, allergy, and autoimmunity. While an association between primary immunodeficiency disorders and increased risk of cancer has been ...
Renzi, Samuele +7 more
core +1 more source
A rare primary immunodeficiency [PDF]
A 9-year-old girl presented with failure to thrive, chronic mucopurulent nasal discharge, recurrent skin pustules and recurrent episodes of purulent ear discharge since 2 years of age. She had coarse facial features with extensive eczema, multiple pyoderma scars, florid dental caries, retained primary dentition, hypermobile joints and a woody ...
Poornima, Nagaraj +3 more
openaire +2 more sources
Newborn Screening for SCID: Experience in Spain (Catalonia)
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
Neurological Manifestations of Primary Immunodeficiencies [PDF]
Primary immunodeficiencies (PID) are a heterogeneous group of disorders with a variable clinical spectrum of manifestations. The central nervous system may be involved in PIDs with symptoms which may present initially or develop at later stages ...
Darougar, Sepideh +2 more
core +1 more source
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
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

