Macrophage Activation Syndrome Secondary to Histoplasmosis in an Adult Female Carrier of X-linked Chronic Granulomatous Disease with Extreme Lyonization.

not applicable to a Letter to the Editor.

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

PURPOSE: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. METHODS: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. RESULTS: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. CONCLUSIONS: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.

[IgE deficiency: a forgotten disease?]. / Deficiencia de IgE: un padecimiento olvidado?

BACKGROUND: Selective IgE deficiency is a profound deficiency (< 5 UI/mL) or absence of serum IgE levels without other immunologic abnormalities. It is usually asymptomatic, but may be associated with recurrent respiratory infections, chronic fatigue, and musculoskeletal complaints. OBJECTIVE: To describe the evolution and treatment in patients with selective IgE deficiency. PATIENTS AND METHOD: In selective IgE's deficiency patients identification note, atopy history, concurrent diseases, clinic of allergic diseases, Prick test and prior response to treatment were analyzed. RESULTS: Eleven patients were included, five women and six men within 16 months to 10 years old. The patients had serum IgE levels < 5 UI with other immunoglobulins and sub-classes in normal levels; except a patient with concomitant IgA and IgE deficiency. The treatment administered was since prophylactic antibiotic to intravenous gammaglobulin. DISCUSSION: We established the diagnosis of selective IgE deficiency in patient with serum IgE levels < 5 UI/mL associated with recurrent respiratory infections. CONCLUSIONS: We need more clinic studies to document with precision the selective IgE deficiency.

[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. / Enfermedad alérgica con hiperproducción de IgE. Propuesta de nueva denominación para una enfermedad alérgica confundida con inmunodeficiencia.

Within the variety of diseases in which there is an excessive production of immunoglobulin E (IgE), clinicians have the dilemma to establish a differential diagnosis between allergy, immunodeficiency and even autoimmunity. In the present study the clinical manifestations of allergic patients who presented very high levels of IgE and who were taken care of in the Allergy Service of the National Institute of Pediatrics and did not show criteria to be identified as carriers of some non-atopic immunological disease (eg. Hyper-IgE syndrome), are described. In addition, the regulation and synthesis of IgE is presented. The authors propose that the presence of an allergic entity with or without skin manifestations without any history of recurrent infections or cutaneous abscesses, should be named allergic disease with hypersynthesis of IgE, in which the levels of IgE are greater than 2,000 UI/mL.