[Chronic granulomatous disease diagnosis: Patients and carriers]. / Diagnóstico de enfermedad granulomatosa crónica; pacientes y portadoras.

Chronic granulomatous disease (CGD) is a primary immunodeficiency, it has a defect in phagocytosis and its estimated incidence is 1 in 250,000 live births. Recurrent infections and granulomas are the most common clinical manifestations. CGD is caused by a functional defect in one of the subunits of the NADPH oxidase, the patients have mutations in NADPH genes. There are two patterns of transmission described in CGD, X-linked and autosomal recessive. The diagnosis of CGD is made by direct measurement of superoxide production, ferricytochrome c reduction, chemiluminescence, reduction of nitroblue tetrazolium or 1, 2, 3 dihydrorhodamine oxidation. After the diagnosis of CGD is important to identify the pattern of transmission in each case in order to provide genetic counseling to the patient's family, as well as inform Xlinked CGD carriers that have a major risk to develop autoimmune diseases. The 1, 2, 3, DHR help to identify the pattern of transmission and carriers of CGD Xlinked, it is considered as a screening method because of its easiness, sensitive and inexpensive cost.

[Common variable immunodeficiency. A clinical approach]. / Inmunodeficiencia común variable. Un enfoque clínico.

Common variable immunodeficiency (CVID) is an immunodeficiency characterized by an impaired ability to produce antibodies associated to multiple clinical phenotypes. The incidence is around 1/50,000 new borns. The age at diagnosis shows 2 peaks, between 1-5 and 16-20 years old. The failure is localized in partially mature B lymphocytes, affects antibody synthesis and class switch from IgM to IgG. Only in 10% of cases, a mutation has been detected, in the others, the genetic defect is unknown. The clinical manifestations are severe and recurrent infections, autoimmunity, gastrointestinal manifestations, lymphoid hyperplasia and a high risk to develop cancer. The most common clinical presentation consists in recurrent sinus-bronchial infections. Hemolytic anemia and thrombocytopenia are frequent autoimmune disorders. Diagnosis must be suspected in a patient with sinus-bronchial infections associated to the different clinical syndrome above described, also significant reduction of immunoglobulin G, reduction of immunoglobulin A or immunoglobulin M. The differential diagnosis of CVID is largely based on the exclusion of other antibody immune deficiencies. Mutation on TACI, ICOS, CD19, BAFF-R, MSH5 must be ruled out for molecular diagnosis. Immunoglobulin replacement therapy diminishes the risk of developing pulmonary complications.