Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control autoimmune disorders or autoimmunity associated with infection predisposition. We identified the genetic variants that were compatible with the patients' phenotype in 54% of the patients. Autoimmune diseases are often caused by a combination of genetic factors, but cases that appear at a young age are resistant to treatment or occur in clusters, as well as the presence of autoimmune symptoms alongside infectious diseases should raise suspicion for an underlying inborn error of immunity.

Enfermedad de Kawasaki con manifestaciones asociadas graves y síndrome de activación macrofágica en un paciente pediátrico / Kawasaki disease with severe manifestations and macrophage activation syndrome in a pediatric patient

La enfermedad de Kawasaki es una vasculitis febril, aguda y multisistémica, que afecta, principalmente, a niños menores de 5 años. Se describen las características clínicas, la evolución y las consideraciones terapéuticas en un paciente con diagnóstico de enfermedad de Kawasaki completo con manifestaciones multisistémicas graves, dentro de las cuales se resalta el síndrome de activación de macrófagos, que representa una complicación inusual y potencialmente mortal de la enfermedad

Kawasaki disease is a febrile, acute and multisystemic vasculitis that mainly affects children under 5 years of age. We describe the clinical characteristics, evolution and therapeutic considerations in a patient with a diagnosis of complete Kawasaki disease with severe multisystem manifestations, among which stands out the macrophage activation syndrome, which represents an unusual and potentially life-threatening complication of the illness

[Kawasaki disease with severe manifestations and macrophage activation syndrome in a pediatric patient]. / Enfermedad de Kawasaki con manifestaciones asociadas graves y síndrome de activación macrofágica en un paciente pediátrico.

Kawasaki disease is a febrile, acute and multisystemic vasculitis that mainly affects children under 5 years of age. We describe the clinical characteristics, evolution and therapeutic considerations in a patient with a diagnosis of complete Kawasaki disease with severe multisystem manifestations, among which stands out the macrophage activation syndrome, which represents an unusual and potentially life-threatening complication of the illness.

La enfermedad de Kawasaki es una vasculitis febril, aguda y multisistémica, que afecta, principalmente, a niños menores de 5 años. Se describen las características clínicas, la evolución y las consideraciones terapéuticas en un paciente con diagnóstico de enfermedad de Kawasaki completo con manifestaciones multisistémicas graves, dentro de las cuales se resalta el síndrome de activación de macrófagos, que representa una complicación inusual y potencialmente mortal de la enfermedad.

Latin American consensus on the supportive management of patients with severe combined immunodeficiency.

Severe combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy are the only curative treatments available, and the best-known prognostic factors for success are age at diagnosis, age at hematopoietic stem cell transplantation, and the comorbidities that develop in between. There are no evidence-based guidelines for standardized clinical care for patients with SCID during the time between diagnosis and definitive treatment, and we aim to generate a consensus management strategy on the supportive care of patients with SCID. First, we gathered available information about SCID diagnostic and therapeutic guidelines, then we developed a document including diagnostic and therapeutic interventions, and finally we submitted the interventions for expert consensus through a modified Delphi technique. Interventions are grouped in 10 topic domains, including 123 "agreed" and 38 "nonagreed" statements. This document intends to standardize supportive clinical care of patients with SCID from diagnosis to definitive treatment, reduce disease burden, and ultimately improve prognosis, particularly in countries where newborn screening for SCID is not universally available and delayed diagnosis is the rule. Our work intends to provide a tool not only for immunologists but also for primary care physicians and other specialists involved in the care of patients with SCID.