Patricia María O’Farrill-Romanillos

Síndrome látex-papaya: una asociación poco frecuente

BACKGROUND Latex-fruit syndrome (LFS) is characterized by allergy to latex and plants. Papain, chymopapain, caricaine and class I chitinases are papayas most allergenic proteins. The similarity between latex hevein epitopes and papaya class I chitinases might explain the latex-papaya syndrome (LPS). OBJECTIVE To describe the clinical characteristics of patients with LPS. METHODS Cross-sectional, observational, descriptive study where 11 patients diagnosed with latex allergy by skin prick test and clinically diagnosed with papaya-induced anaphylaxis were included. The results were analyzed with descriptive statistics. RESULTS Out of 11 patients with LPS, 72.7% were females (7 to 46 years), all with a history of papaya-induced anaphylaxis, identified by medical history and medical notes plus latex-positive skin prick tests, with 63.3% exhibiting anaphylaxis in the skin prick tests. Risk factors included multiple surgeries, another allergic disease, and being employed in the field of health; 63.6% were allergic to to other foods, 45.4% to medications, 45.4% had allergic rhinitis and 27.3% had asthma. CONCLUSIONS Hypersensitivity to papaya increases the risk of anaphylaxis in patients with latex allergy and, therefore, mortality. Clinical data is the main diagnostic tool. Education for the management of anaphylaxis with adrenaline self-administration is essential.

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains

ABSTRACT Background: X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton’s Tyrosine Kinase) are associated with this phenotype. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations. Methods: Samples from patients with antibody deficiency were analyzed to determine BTK expression, immunophenotyping and mutation analysis. Clinical and laboratory data was analyzed and presented for each patient. Results: Most patients presented here showed atypical clinical and laboratory data for XLA, including normal IgM, IgG, or IgA levels. Most patients expressed detectable BTK protein. Sequencing of BTK showed that these patients harbored missense mutations in the pleckstrin homology and Src-homology-2 domains. When it was compared to public databases, BTK sequencing exhibited a new change, along with three other previously reported changes. Conclusions: Delayed diagnosis and atypical manifestations in XLA might be related to mutation type and BTK expression.