Publications by authors named "Cecilia Hernandez-Fernandez"
Background: Cartilage-hair hypoplasia is a rare autosomal recessive disease, which is characterized by metaphyseal chondrodysplasia and thin hair. It can be accompanied by immunological disorders in varying degrees.
Clinical Case: The case of a 35-month-old girl is described.
Background: Latex-fruit syndrome (LFS) is characterized by allergy to latex and plants. Papain, chymopapain, caricaine and class I chitinases are papaya's most allergenic proteins. The similarity between latex hevein epitopes and papaya class I chitinases might explain the latex-papaya syndrome (LPS).
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- - Primary immunodeficiencies (PIDs) are rare genetic disorders that impact the immune system, with Common Variable Immunodeficiency (CVID) being the most prevalent form in adults, affecting about 1 in 25,000 to 50,000 people and often taking 6-7 years to diagnose.
- - CVID presents with various clinical manifestations, including infections, autoimmune disorders, and gastrointestinal issues, and may be diagnosed even in asymptomatic individuals; however, secondary causes of low immunoglobulin levels must be excluded.
- - Patients with CVID may face multiple complications, necessitating careful monitoring for conditions like lymphoproliferative disease and lung issues, although there's no established guideline on the frequency of evaluations,