Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.

BACKGROUND: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking. METHODS: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed. RESULTS: We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms. CONCLUSIONS: Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country.

Anaphylaxis in Cold Induced Urticaria: A Case Report and Review of The Literature.

Cold-induced urticaria is considered as a subtype of physical urticaria and also the second most common type of chronic inducible urticaria. Contact with cold surfaces or the environment may cause systemic reactions, especially during aquatic activities. A 22-year-old female patient with a history of sulfa drug allergy began her condition 2 years before the presence of generalized pruritic erythema with hives as well as 2 episodes that had been characterized by facial angioedema and syncope 3-5 minutes after being in contact with cold air or surfaces.  On both events, she had just been outdoors on a cold, winter day. She was suspected to have cold-induced urticaria; thereby she had a positive reaction to the ice cube test. Due to the previous episodes of anaphylaxis, the patient was trained to administer intramuscular epinephrine. After 4 weeks of starting the treatment with antihistamines, no new events or injuries had occurred. Cold-induced urticaria may cause life-threatening reactions. The rate of anaphylaxis in these patients is low however, this case is presented to inform the importance of identifying this type of systemic reaction and preventing strategies.