Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

G6PC3 deficiency is a monogenic immunometabolic disorder that causes syndromic congenital neutropenia. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the c.

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Background: G6PC3 deficiency is a rare genetic disorder that causes syndromic congenital neutropenia. It is driven by the intracellular accumulation of a metabolite named 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) that inhibits glycolysis. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis.

[Autoimmunity and Freiburg classification in common variable immunodeficiency].

Introduction: Up to 25% of patients with common variable immunodeficiency (CVID) debut with autoimmunity, which is related to the Freiburg classification, which is based on flow cytometry.

Objective: to determine the frequency and type of autoimmune diseases and their association with the Freiburg classification in adults with CVID.

Methods: A cross-sectional, analytical and observational study was carried out with 33 patients belonging to the Primary Immunodeficiency Clinic of a third level hospital, with a diagnosis of CVID.

[Neurological manifestations in patients with severe COVID-19 in a tertiary care center].

Background: The SARS-CoV-2 disease, called COVID-19, emerged in China has acquired pandemic dimensions. According to the WHO situational report of March 15, 2021, the global fatality rate is 2.2%; in Mexico, around 194 944 deaths have been confirmed by COVID-19.

Erratum to "Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome".

[This corrects the article DOI: 10.1155/2019/6357256.].

[Activity of chronic spontaneous urticaria in euthyroid vs hypothyroid patients].

Background: Chronic urticaria (CU) affects 5 % of the general population and it is associated with thyroid disease in up to 54 % of patients. There is scarce information on the activity of urticaria in patients with and without alterations in the thyroid function.

Objective: To compare the activity rate of urticaria using the UAS7 (Urticaria Activity Score 7) in patients with and without hypothyroidism.

Partial and Transient Clinical Response to Omalizumab in IL-21-Induced Low STAT3-Phosphorylation on Hyper-IgE Syndrome.

Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by elevated levels of immunoglobulin E (IgE), eczematous dermatitis, cold abscesses, and recurrent infections of the lung and skin caused by . The dominant form is characterized by nonimmunologic features including skeletal, connective tissue, and pulmonary abnormalities in addition to recurrent infections and eczema. Omalizumab is a humanized recombinant monoclonal antibody against IgE.

[Epidemiological study on atopic dermatitis in Mexico].

Background: There is limited epidemiological information on the treatment of atopic dermatitis (AD) from specialist physicians in Mexico.

Objective: To know the criteria that is used by specialists in Mexico to diagnose and treat AD.

Methods: An observational, descriptive and cross-sectional study, which was authorized by the ethics committee, was carried out through an electronic survey.

[Actualidades en la inmunopatología de la esclerosis múltiple].

Multiple sclerosis is a demyelinating inflammatory disease that affects the central nervous system. Its etiology is the result of a complex interaction between genetic and environmental factors that trigger a deregulated immune response, with the resulting inflammation and neuronal/axonal degeneration. Neuroinflammation is triggered when peripheral leukocytes migrate to the central nervous system and release cytokines such as interleukins 1 and 6 (IL-1 and 6) and tumor necrosis factor (TNF), which act on dwelling cells.

[Bronchiectasis severity in adult patients with common variable immunodeficiency].

Background: Common variable immunodeficiency (CVID) is the most common primary symptomatic humoral immunodeficiency in adults. Antibody deficiency entails higher susceptibility to sinopulmonary infections and bronchiectasis formation, which is related to increased mortality. Scales have been established to assess the degree of severity of bronchiectasis in order to predict outcomes such as mortality, exacerbations and hospitalizations.

[Latex-papaya syndrome: an infrequent association].

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).

[Good's syndrome. Report of case].

Background: Good's syndrome is an association of thymoma and immunodeficiency. The symptoms are recurrent sinopulmonary infections in addition to the compressive side of thymoma. A laboratory finding is notable for the absence or decrease of B lymphocytes, hypogammaglobulinemia, inversion ratio CD4/CD8 and abnormal proliferative response to mitogens.

[Hematopoietic stem cells transplant in patients with common variable immunodeficiency. Is a therapeutic option?].

Background: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality.

[Type and location of bronchiectasis in a cohort of adults with common variable immunodeficiency].

Background: Bronchiectasis are permanent dilatations of the bronchi. Its prevalence in patients with variable common immunodeficiency (CVID) is high, however there is little information regarding the type and location of the same; therefore the objective of this study is to know the type and location of bronchiectasis in a cohort of adult patients with CVID.

Methods: It has been made a transversal, observational and descriptive study that included 32 adult patients with diagnosis of CVID according to the criteria of the European Society of Immunodeficiencies (ESID).

[Clinic of humoral primary immunodeficiencies in adults. Experience in a tertiary hospital].

Background: Primary immunodeficiencies (PID) are characterized by alteration of the components of the immune system. Humoral deficiencies represent 50%. The most common are selective IgA deficiency, Bruton agammaglobulinemia, and common variable immunodeficiency (CVID).

[Identification of microorganisms related to chronic rhinosinusitis in adult patients with variable common immunodeficiency].

Background: The prevalence of chronic rhinosinusitis in adult patients with common variable immunodeficiency (CVID) is 52%. The patients with CVID show higher incidence of chronic rhinosinusitis, which is an inflammatory disease that affects the lining of one or more paranasal sinuses and nasal cavity.

Objective: To identify the microorganisms in the middle meatus secretion obtained by endoscopy associated with chronic rhinosinusitis in adult patients with common variable immunodeficiency (CVID).

[Systemic lupus erythematous and CD24v].

Background: Systemic lupus erythematous is an autoimmune disease of multifactorial etiology with genetic predisposition. Its pathogenesis involved more than 100 genes. CD24 gene can mediate various functions such as their costimulatory activity in the clonal expansion of T cells.

[Infection due to Mycobacterium bovis in common variable immunodeficiency].

Common variable immunodeficiency (CVID) is an heterogeneous group of disorders characterized by impaired antibody production. It shows a wide spectrum of manifestations including severe and recurrent respiratory infections (Streptococcus pneumoniae, Haemophilus) and gastrointestinal (Campylobacter jejuni, rotavirus and Giardia lamblia). Viral infections caused by herpes zoster, cytomegalovirus (CMV) and hepatitis C are rare.