RESUMO
CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.
Assuntos
Ligante de CD40 , Síndromes de Imunodeficiência , Ligante de CD40/genética , Estudos de Coortes , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , América Latina/epidemiologia , Estudos RetrospectivosAssuntos
Masculino , Humanos , Lactente , Relatos de Casos , Dermatite/patologia , Lactente , ParvovirusRESUMO
Antecedentes Personales Patológicos Asma bronquial desde los 8 años de edad, con consultas a servicios de guardia e intemaciones frecuentes: asma mal controlada. Tórax: aparato respiratorio, auscultación: roncus y sibilancias en ambos campos pulmonares, estertores subcrepitantes y tos con movilización de secreciones en campo pulmonar izquierdo, afebril. Recuento de blancos: 8200 xmm3, Eosinófilos 3 porciento. Baciloscopía de esputo negativa. Test del sudor: negativo. lnmunoglobulina E: más de 2000 U l/mI, (valor normal: O a 150 UIIml). lnmunoglobulina E anti Aspergillus. Métodos Complementarios positivos realizados. Espirometría: Obstrucción moderada de la pequeí'la y de la gran vía aérea. Testificación cutánea, con técnica de skin prick test, resultado: pruebas positivas para Aspergillus fumigatus 10/22 con pseudópodos, control positivo de histamina: 6/15. Diagnóstico Aspergilosis Alérgica Broncopulmonar.