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Background: Activated phosphoinositide 3-kinase delta syndrome (APDS) [OMIM 615513] is an inborn error of immunity with autosomal dominant inheritance caused by a pathogenic variant in the PIK3CD gene. The prevalence ratio of APDS is < 1: 1,000,000 newborns. The main clinical features of APDS are sinopulmonary infections, benign lymphoproliferation, autoinflammatory disease, and a major risk of lymphoid neoplasms. Clinical case: A 17-year-old female with a history of pneumonia at 9 months of age subsequently developed recurrent respiratory tract infections, bronchiectasis, perforated otitis media, unilateral tonsillar lymphoid hyperplasia, pansinusitis, recurrent oral candidiasis, and chronic rhinitis. Laboratory studies reported persistent leukopenia and lymphopenia, low CD4 lymphocyte subpopulation, and persistently elevated immunoglobulin M immunoglobulin studies with values up to 692 mg/dL. An inborn error of immunity next-generation sequencing and multiplex ligation-dependent probe amplification analysis detected a heterozygous pathogenic variant in the PIK3CD gene, compatible with APDS. Treatment with monthly injectable gamma globulin and prophylactic antibiotics was started, allowing better control of the infectious processes. Conclusion: This is the second case of APDS reported in Mexico in the literature. It is important to be aware of this condition to make a timely diagnosis, which requires a high clinical suspicion and immunological and genetic studies to provide adequate treatment and prevent complications. [ABSTRACT FROM AUTHOR]

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To assess the prevalence of systemic and organ-specific autoimmunity among individuals with human inborn errors of immunity (IEI). Retrospective study. We recorded demographic variables, type of immunodeficiency, and systemic and organ specific autoimmunity. We included 48 patients (54.1% men) with mean age of 32.1 years. The most common IEIs included combined immunodeficiency with syndromic features (31.2%) and predominantly antibody deficiency (20.1%). We observed autoimmunity in 15 patients (31.2%): 12 organ-specific autoimmunity and 5 systemic autoimmunity, not mutually exclusive groups. Organ-specific autoimmunity preceded the onset of IEI in 5 patients, was concurrent in one patient, and developed after the diagnosis of IEI in 6 cases. From the systemic autoimmunity group, we observed polyarteritis nodosa (n = 2), antiphospholipid syndrome (APS) (n = 2), and overlap of limited systemic sclerosis/APS/Sjögren's syndrome (n = 1), and in all cases, this occurred after the IEI diagnosis. Our findings confirm the coexistence of autoimmunity and IEI. This overlap may be attributed to B and T cell disorders, as well as potential alterations in the microbiota in these patients. [ABSTRACT FROM AUTHOR]

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Introduction: The aim of the study was to assess the incidence of hospital admission due to severe acute respiratory infection by respiratory syncytial virus (RSV-ARI) in children with primary immunodeficiencies (PIDs) and the severity of RSV-ARI in these patients. Methods: We conducted a nationwide cross-sectional retrospective and prospective multicentre study in the 2011–2017 period. The study was performed in 15 Spanish hospitals and included children with PID who required hospital admission due to RSV-ARI. Results: Out of 439 patients with PID followed up at participating hospitals, 13 (3%) required hospital admission due to RSV-ARI. The median age of admitted patients was 1.6 years (interquartile range, 0.5−2.2), and 7 were male. The types of PID most frequently associated with admission due to RSV-ARI were combined immunodeficiency (CID; 4/71; 6%) and CID with associated or syndromic features (CIDwASF; 6/147; 4%). Two of the 13 patients were receiving palivizumab for RSV prophylaxis, and 3 received potentially active therapies against RSV during the hospital stay. Viral coinfection was detected in 6 patients, 5 (39%) developed complications, and 4 (31%) required admission to the paediatric intensive care unit. There were no documented RSV-related deaths. Conclusions: In the group of patients with PID, severe RSV infection requiring hospitalization is more frequent in patients with CID and CIDwASF, in whom special efforts should be made to prevent RSV infection. Further studies are needed to confirm these results. Resumen: Introducción: El objetivo del estudio fue evaluar la incidencia de la hospitalización por infección respiratoria aguda (IRA) grave por virus respiratorio sincitial (VRS) en niños con inmunodeficiencia primaria (IDP) y la gravedad de la IRA causada por VRS (IRA-VRS) en estos pacientes. Métodos: Estudio transversal ambispectivo multicéntrico a nivel nacional realizado en el período 2011–2017. El estudio se llevó a cabo en 15 hospitales españoles incluyendo a niños que requirieron hospitalización por IRA-VRS. Resultados: De los 439 pacientes con IDP seguidos en los centros participantes, 13 (3%) fueron ingresados por IRA-VRS. La mediana de edad de los pacientes fue de 1,6 años (rango intercuartílico: 0,5−2,2), y 7 eran varones. Los tipos de IDP asociados con mayor frecuencia a la hospitalización por IRA-VRS fueron la inmunodeficiencia combinada (IDC; 4/71 [6%]) y la IDC con características sindrómicas (IDCCS; 6/147 [4%]). Dos de los 13 pacientes recibían palivizumab para profilaxis frente al VRS, y 3 recibieron terapias potencialmente activas frente al VRS durante la estancia hospitalaria. Se detectó coinfección viral en 6 pacientes, 5 (39%) desarrollaron complicaciones y 4 (31%) requirieron ingreso en la unidad de cuidados intensivos. No se registraron muertes relacionadas con el VRS. Conclusiones: Dentro de los pacientes con IDP, la necesidad de hospitalización por infección grave por VRS es más frecuente en los pacientes con IDC y IDCC, en los que ha de prestarse una atención especial a la prevención de infección por VRS. Se requieren estudios adicionales para confirmar estos resultados.

Introducción: Las inmunodeficiencias primarias son un grupo heterogéneo de trastornos genéticos que afectan el funcionamiento del sistema inmunológico. Pueden presentarse con características clínicas variables en la primera infancia y en la edad adulta. Objetivo: Caracterizar clínica y demográficamente a pacientes diagnosticados con inmunodeficiencias primarias. Métodos: Se realizó un estudio de serie de casos, transversal, descriptivo, retrospectivo, con 39 pacientes de ambos sexos, con diagnóstico de inmunodeficiencias primarias, según la última clasificación de la International Union of Immunological Societies; atendidos de enero de 2012 a diciembre de 2021 en Granma. Se evaluó la edad (de inicio de los síntomas, diagnóstico y retraso en el diagnóstico), sexo, antecedentes familiares y manifestaciones clínicas. Se recolectaron los datos de las historias clínicas. Se utilizó estadística descriptiva. Resultados: La edad de inicio de los síntomas osciló entre el mes de vida y los 37 años, con una media de 6,31 años; la edad media de diagnóstico fue de 11,89 años. Las deficiencias humorales representaron el 69,23 % de todas las inmunodeficiencias primarias y predominó el déficit relativo de IgA (11 casos). Reportaron antecedentes familiares de inmunodeficiencias primarias 12 pacientes. Las infecciones recurrentes (71,79 %) y las alergias (61,53 %) fueron las manifestaciones más frecuentes; la tasa de mortalidad fue de 2,56 %. Conclusiones: Las inmunodeficiencias primarias fueron más frecuentes en la infancia, con el mismo comportamiento en ambos sexos. Las infecciones, las alergias y los antecedentes familiares de inmunodeficiencia primaria fueron hallazgos importantes. Las inmunodeficiencias humorales fueron las más prevalentes.

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Objective: To assess the prevalence of systemic and organ-specific autoimmunity among individuals with human inborn errors of immunity (IEI)., Methods: Retrospective study. We recorded demographic variables, type of immunodeficiency, and systemic and organ specific autoimmunity., Results: We included 48 patients (54.1% men) with mean age of 32.1 years. The most common IEIs included combined immunodeficiency with syndromic features (31.2%) and predominantly antibody deficiency (20.1%). We observed autoimmunity in 15 patients (31.2%): 12 organ-specific autoimmunity and 5 systemic autoimmunity, not mutually exclusive groups. Organ-specific autoimmunity preceded the onset of IEI in 5 patients, was concurrent in one patient, and developed after the diagnosis of IEI in 6 cases. From the systemic autoimmunity group, we observed polyarteritis nodosa (n = 2), antiphospholipid syndrome (APS) (n = 2), and overlap of limited systemic sclerosis/APS/Sjögren's syndrome (n = 1), and in all cases, this occurred after the IEI diagnosis., Conclusion: Our findings confirm the coexistence of autoimmunity and IEI. This overlap may be attributed to B and T cell disorders, as well as potential alterations in the microbiota in these patients., (Copyright © 2024 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.)

La inmunodeficiencia común variable (IDCV) es la inmunodeficiencia primaria sintomática más prevalente: se estima un caso entre 10 000 a 50 000 habitantes. Esta enfermedad heterogénea se caracteriza por disminución de las inmunoglobulinas séricas, una producción deficiente de anticuerpos específicos tras la vacunación y por infecciones bacterianas recurrentes, en particular de los tractos respiratorio y gastrointestinal. Un subgrupo de pacientes se caracteriza por manifestaciones adicionales, a menudo predominantes, de desregulación inmunitaria en lugar de inmunodeficiencia pura. Aproximadamente, 30 % de los pacientes con IDCV desarrolla autoinmunidad. La mitad de las complicaciones se puede atribuir a citopenia autoinmunitaria, pero también a otros tipos de autoinmunidad tales como enfermedades autoinmunitarias específicas de órganos, que se manifiestan a menudo como enfermedad inflamatoria: enfermedad inflamatoria intestinal, enfermedad celiaca, enfermedad pulmonar intersticial, algunas formas de artritis, vitíligo y muchas otras. Nuevos defectos monogénicos aclaran el mecanismo inmunopatológico que provoca la coincidencia de inmunodeficiencia y autoinmunidad. Las enfermedades autoinmunitarias se han convertido en el principal desafío clínico en la IDCV, con nuevas herramientas de diagnóstico, especialmente genéticas, que mejoran la comprensión de las formas variantes de desregulación inmunitaria.

Currently there are 430 primary immunodeficiencies (PIDs) also called innate immunity errors, resulting from more than 320 identified mutations, which together affect at least 1 in 500 live newborns and are therefore no longer considered rare diseases. Many doctors do not suspect these pathologies, which generates delay in diagnosis and treatment, generating a poor prognosis for life quality and death, for which reason the objective of this article is to transmit the key points for their suspicion and reference to a specialized center. [ABSTRACT FROM AUTHOR]

Background: Primary immunodeficiencies are inherited diseases that compromise numerous systems and whose clinical manifestation is varied. It is an underdiagnosed pathology in Colombia. Objectives: To characterize primary immunodeficiencies in patients younger than 16 years who attended the San Rafael Clinical University Hospital, Bogota, between January 1, 2010 and July 1, 2016, as well as to provide information that enriches local, national and international statistics. Methods: Observational study of a cases series. All patients diagnosed with primary immunodeficiencies were analyzed, with a total of 75 patients. Results: Patients between one and five years of age (33 % of all cases) were the most affected, followed by patients from six to 11 months, including 17 cases; 21 cases corresponded to patients under 1 year of age; 80 % of affected children were males. Antibody deficiency was the most common type of immunodeficiency (56 %), followed by T/B lymphocyte deficiency (38 %). Conclusions: Patients with primary immunodeficiencies of the analyzed hospital had the same age and gender distribution observed in international studies. The most common primary immunodeficiency was due to antibody defects.

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Antecedentes: Las inmunodeficiencias primarias son un grupo de enfermedades causadas por uno o más defectos del sistema inmunitario. Objetivo: Describir las características de las inmunodeficiencias diagnosticadas en un hospital pediátrico de tercer nivel, que constituye un centro de referencia en el Occidente de México. Métodos: Estudio transversal de pacientes pediátricos con inmunodeficiencias primarias atendidos en un hospital pediátrico en Guadalajara, Jalisco. Resultados: Se registraron 60 pacientes, 21 % mujeres y 78 % hombres. Las inmunodeficiencias predominantes de anticuerpos constituyeron el grupo más numeroso (46 %). La agammaglobulinemia ligada al cromosoma X fue la inmunodeficiencia más frecuente, con 21 % del registro. Otros diagnósticos frecuentes fueron inmunodeficiencia común variable y deficiencia de subclases de IgG. El promedio de edad al diagnóstico fue de 6.3 años. Las manifestación inicial más común fueron los procesos infecciosos (46 %) y la neumonía fue el diagnóstico más frecuente (30 %). Las manifestaciones autoinmunes se observaron en 13 % de los pacientes; 67 % de los pacientes se encontró con sustitución de inmunoglobulina, con la cual se observó disminución en las hospitalizaciones: de 3.2 a 0.13 veces. Fallecieron dos pacientes por complicaciones quirúrgicas de corrección cardiaca y reconexión intestinal. Conclusión: El conocimiento del comportamiento de las inmunodeficiencias primarias en nuestro medio permite apertura de áreas de oportunidad a fin de mejorar la supervivencia y calidad de vida de los pacientes.

Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency with an estimated prevalence of one in 10,000 to 50,000 inhabitants. This heterogeneous disease is characterized by decreased levels of serum immunoglobulins, a poor production of specific antibodies upon vaccination, and recurrent bacterial infections, particularly in the respiratory and gastrointestinal tract. A subgroup of patients is characterized by additional, and often predominant, manifestations of immune deregulation rather than pure immunodeficiency. Approximately, 30% of patients with CVID develop autoimmunity. Half of those complications can be attributed to autoimmune cytopenia, but also to other types of autoimmunity, such as organspecific autoimmune diseases, often manifest as inflammatory disease, including inflammatory bowel disease, celiac disease, interstitial lung disease, some forms of arthritis, and vitiligo, among many others. New monogenic defects elucidate the immunopathological mechanism that causes the coincidence of immunodeficiency and autoimmunity. Autoimmune diseases have become the major clinical challenge in CVID, with new diagnostic tools, especially genetic ones, that improve the understanding of the different forms of immune deregulation. [ABSTRACT FROM AUTHOR]

Introduction: Campylobacter spp. is the leading cause of bacterial enteritis in industrialized countries, but the literature about its recurrence is scarce. The objective of this study is to analyze a case series of recurrent campylobacteriosis in adult and pediatric patients., Methods: During a two-year period, the demographic, clinical and microbiological data were collected retrospectively from patients who met the clinical criteria of recurrent Campylobacter spp. gastroenteritis. Enteropathogens were identified by a multiplex-PCR gastrointestinal pathogens panel. When Campylobacter spp. was detected, the stool sample was cultured in specific medium and tested for antibiotic susceptibility., Results: Twenty-four (2.03%) out of 1180 patients with Campylobacter spp. positive-PCR met the inclusion criteria. Thirteen patients suffered from underlying diseases, and 11 had no known risk factors but they were all pediatric patients. From the 24 patients were documented 70 episodes. One patient had two episodes of bacteremia. Coinfection/co-detection with other enteropathogens was found in 10 patients being Giardia intestinalis the most frequent. Twelve (22.6%) out of 53 isolates were resistant to macrolides. One patient had two isolates of multi-drug resistant C. coli, only susceptible to gentamicin., Conclusion: The results suggest the presence of underlying diseases in most adult patients with recurrent Campylobacter spp. infections, particularly primary immunodeficiency. Most of the pediatric patients with recurrent campylobacteriosis lack of known risk factors. Concomitant detection with other enteropathogens was common. The resistance to macrolides was much higher as compared with previous reported rates., (Copyright © 2022 Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. Published by Elsevier España, S.L.U. All rights reserved.)

Background: Primary immunodeficiencies are diseases that are caused by one or more defects in the immune system. Objective: The purpose of the article is to describe the characteristics of the immunodeficiencies that were diagnosed in a pediatric hospital, which forms a reference center in the West of Mexico. Methods: A cross-sectional study of pediatric patients with primary immunodeficiency in a pediatric hospital in Guadalajara, Jalisco. Results: 60 patients were registered, of which 21% were female, and 78% were male. Predominant immunodeficiencies of antibodies formed the largest group (46% of patients). X-linked agammaglobulinemia was the most frequent immunodeficiency (21%); other frequent diagnoses were common variable immunodeficiency, and IgG subclass deficiency. The average age of the patients that were diagnosed was of 6.3 years. The most common initial manifestations were infectious processes (46%), and pneumonia was the frequent diagnosis (30%). Autoimmune manifestations were observed in 13% of patients; 67% of the patients were found with immunoglobulin replacement therapy, with which a decrease in hospitalizations from 3.2 times to 0.13 times was observed. There were two deceased patients due to surgical complications of cardiac correction and intestinal reconnection. Conclusion: Knowing the behavior of primary immune deficiencies in our environment allows the opening of areas of opportunity in order to improve the survival and quality of life of our patients. [ABSTRACT FROM AUTHOR]

Background: Several mutations have been described leading to impaired immunity in the IL-12/IFN-γ axis and, they confer susceptibility to mycobacterial infections. One of the more serious clinical phenotypes is secondary to mutations at IFN-γ receptor 1 gene, characterized by an early onset and more severe disease. Case report: We present a 3-month-old female patient with systemic M. tuberculosis complex who has a homozygous mutation, it affects the splicing site at IFNGR1 c.201-1G> T. At time of this report, she is with antimycobacterial treatment in the protocol of pluripotent hematopoietic cell transplantation (TCHP). Conclusion: It has been reported that antiphimic treatment should be maintained until the immune system is restored by the TCHP. If patients receive THCP before the age of 1 year old, they have a better prognosis. Diminish the levels of IFN-γ in plasma before the procedure is associated to better results.

Copyright of Revista Española de Quimioterapia is the property of Sociedad Espanola de Quimioterapia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome.

INTRODUCCIÓN: las inmunodeficiencias primarias están subdiagnosticadas en todo el mundo, aun en centros de tercer nivel de atención. Los defectos de anticuerpos constituyen el grupo más prevalente y suelen manifestarse clínicamente después de los 6 meses de edad como infecciones respiratorias recurrentes causadas por bacterias encapsuladas. Algunas cirugías de oído-nariz y garganta se indican en pacientes con infecciones respiratorias recurrentes o complicadas que no han respondido adecuadamente al tratamiento médico. Estos niños sometidos a procedimientos quirúrgicos luego de una historia de infecciones respiratorias recurrentes pueden constituir un grupo de alto riesgo para inmunodeficiencias primarias. OBJETIVO: indagar qué tan frecuentes son los defectos de anticuerpos en niños sometidos a cualquiera de tres cirugías de otorrinolaringología. MATERIALES Y MÉTODOS: revisamos los expedientes electrónicos de niños que hubieran sido sometidos a adenoamigdalectomía (ATT), drenaje endoscópico de senos paranasales (ESD) y colocación de tubos timpánicos de ventilación (TVT) en nuestro instituto durante 2011-2012, en busca de niveles séricos de inmunoglobulinas (IgE, IgG, IgA, IgM). RESULTADOS: encontramos 112 procedimientos quirúrgicos en 87 pacientes, de los cuales la indicación para cirugía fue infecciosa en 37 (21 varones, 1 muerto, edad media 7.3 años), más frecuentemente rinosinusitis (19/37) y amigdalitis (9/37) crónicas. Los procedimientos incluyeron: 24 adenoamigdalectomías, 13 drenajes endoscópicos de senos paranasales y 6 colocaciones de tubos timpánicos de ventilación, para un total de 43; ocho pacientes (21.6%) fueron sometidos a más de una cirugía. La IgE sérica se encontró en el expediente de 27 pacientes (72.9%), y “al menos IgG” en 18 (48.6%). Sólo 70% de las pruebas fueron ordenadas antes de la cirugía. Los resultados anormales incluyeron: IgE elevada en 10/27, IgG elevada en 8/18, IgG baja 1/18, IgM elevada 3/17 e IgA elevada en 5/17. Dos niños con enfermedad granulomatosa crónica fueron identificados a través de esta búsqueda electrónica. CONCLUSIONES: describimos 37 pacientes sometidos a cirugía de otorrinolaringología por una historia de infecciones respiratorias recurrentes, complicadas o refractarias, de los cuales al menos nueve eran alérgicos y al menos dos tenían una inmunodeficiencia primaria. Sólo 18 de esos 37 tenían determinación de IgG como parte de su evaluación preoperatoria; un índice alarmantemente bajo de sospecha para defectos de anticuerpos. Estudios previos en adultos con rinosinusitis crónica han encontrado defectos de anticuerpos. Planeamos completar la evaluación inmunológica de los 37 pacientes, incluyendo para deficiencia específica de anticuerpos (SAD). Banderas rojas como IgE >2,000 IU/mL, neumonía complicada o cultivo de Aspergillus pueden ser útiles para detectar pacientes con inmunodeficiencia primaria no diagnosticada.

Background: Primary immunodeficiencies are inherited diseases that compromise numerous systems and whose clinical manifestation is varied. It is an underdiagnosed pathology in Colombia. Objectives: To characterize primary immunodeficiencies in patients younger than 16 years who attended the San Rafael Clinical University Hospital, Bogota, between January 1, 2010 and July 1, 2016, as well as to provide information that enriches local, national and international statistics. Methods: Observational study of a cases series. All patients diagnosed with primary immunodeficiencies were analyzed, with a total of 75 patients. Results: Patients between one and five years of age (33% of all cases) were the most affected, followed by patients from six to 11 months, including 17 cases; 21 cases corresponded to patients under 1 year of age; 80% of affected children were males. Antibody deficiency was the most common type of immunodeficiency (56%), followed by T/B lymphocyte deficiency (38%). Conclusions: Patients with primary immunodeficiencies of the analyzed hospital had the same age and gender distribution observed in international studies. The most common primary immunodeficiency was due to antibody defects. [ABSTRACT FROM AUTHOR]

Wiskott-Aldrich syndrome was rst reported clinically in 1937, and in 1954 the classic triad was identified: eccema, recurrent infections and thrombocytopenia with an X-linked transmission. Its incidence is estimated at 1 to 10 in one million live births per year. Wiskott Aldrich syndrome is caused by mutations in a gene in the short arm of chromosome X that encodes the Wiskott-Aldrich syndrome protein (WASp), which identi cation and sequencing was rst performed in 1994, and since then about 300 mutations have been reported. This paper describes the case of a boy with Wiskott-Aldrich syndrome, with clinical and genetic diagnosis, with a considerable diagnostic delay attributable to an atypical presentation misdiagnosed as immune thrombocytopenia.

Antecedentes: Las inmunodeficiencias primarias no solo se manifiestan con susceptibilidad a infecciones, sino que pueden enmascararse con otras manifestaciones como las alergias. El síndrome de hiper-IgE (SHIGE) es una inmunodeficiencia primaria que se caracteriza por elevación de la inmunoglobulina E (IgE), que también se encuentra elevada en la mayoría de las enfermedades alérgicas, particularmente en la dermatitis atópica. El SHIGE es una enfermedad genética autosómica que puede ser dominante o recesiva, cuyas principales características clínicas son eccema, IgE elevada y eosinofilia. El SHIGE dominante (STAT3) se presenta con fenotipos particulares que comprometen el sistema musculoesquelético, tejido conectivo y vascular. El SHIGE recesivo (DOCK8, TYK2) se presenta con más susceptibilidad para infecciones virales, fúngicas, alérgicas múltiples y más severas, como anafilaxia. Objetivo: Presentar tres pacientes clásicos con dermatitis atópica y SHIGE, para ilustrar cómo diferenciar los tipos de SHIGE de acuerdo con las manifestaciones y la utilidad de la Escala de SHIGE. Reporte de casos: Caso 1: Mujer de 21 años que desde la etapa neonatal presentaba eccema severo, retardo en la caída de los dientes, con doble fila de dientes, fascies tosca, hiperlaxitud-escoliosis, múltiples infecciones otosinusales, abscesos fríos que requirieron drenaje, linfadenitis reactiva, IgE total > 10 000, eosinofilia de 32 %; la puntuación fue de 32 al aplicar la Escala de SHIGE (muy probable). Se solicitó estudio genético y se confirmó la mutación en el gen de STAT3. Caso 2: Adolescente masculino de 16 años, con historia de eccema desde lactante, con síntomas alérgicos severos como asma de difícil control, rinitis y alergia a alimentos, infecciones por herpes virus recurrentes, moluscos, linfadenitis, IgE > 10 000, puntuación de 28 en la Escala de SHIGE, estudio genético positivo para DOCK8. Caso 3: Niño de ocho años, con historia desde lactante de eccema flexor crónico severo, xerodermia generalizada severa, piodermitis recurrente pero no profunda. En múltiples ocasiones, el paciente fue hospitalizado por sobreinfecciones bacterianas y moluscos. Sin infecciones respiratorias, IgE total de 10 000, eosinofilia de 17 %, estudios genéticos negativos para STAT3 y DOCK8. Conclusiones: El eccema, la IgE total elevada y la eosinofilia están presentes también en dermatitis atópica, por lo que se debe considerar otras manifestaciones más características de SHIGE, como las alteraciones musculoesqueléticas, de tejido conectivo o vasculares, las infecciones sinopulmonares recurrentes y severas (bronquiectasia o neumatocele), infecciones virales o fúngicas severas. La Escala de SHIGE es más sensible y específica para SHIGE dominante (STAT3).

Antecedentes: La enfermedad granulomatosa crónica es una inmunodeficiencia primaria producida por mutaciones en los genes que codifican para alguna de las cinco proteínas que conforman el sistema NADPH oxidasa, el cual se encarga de destruir los microorganismos fagocitados mediante la producción de especies reactivas de oxígeno. El diagnóstico bioquímico se realiza mediante la prueba de dihidrorodamina 123 y el diagnóstico definitivo mediante técnicas moleculares como la secuenciación completa del exoma. Objetivo: Describir las características clínicas y realizar el diagnóstico molecular mediante la secuenciación completa del exoma de cuatro pacientes colombianos con enfermedad granulomatosa crónica. Métodos: Se revisaron las historias clínicas de los pacientes; se analizó la explosión respiratoria a través de la prueba de dihidrorodamina 123; se realizó secuenciación completa del exoma y las variantes encontradas se confirmaron por secuenciación de Sanger. Resultados: Los cuatro pacientes son de sexo masculino, con padres no consanguíneos, que presentaron manifestaciones clínicas desde temprana edad. El paciente 1 tuvo abscesos, lesiones osteolíticas e infecciones recurrentes. El paciente 2 presentó infección del tracto urinario (ITU) complicada, neumonía necrotizante multilobar e infecciones gastrointestinales a repetición. Los pacientes 3 y 4 son gemelos; el paciente 3 presentó neumonías e ITU recurrentes, absceso cervical y linfadenitis, mientras que el paciente 4 presentó síndrome febril sin foco, colitis granulomatosa, adenomegalias mesentéricas y retroperitoneales. Todos los pacientes obtuvieron resultados anormales en la dihidrorodamina 123 y mediante secuenciación completa del exoma y Sanger se hallaron las siguientes mutaciones en el gen CYBB ubicado en el cromosoma X que codifica para la proteína gp91phox: el paciente 1 presentó una mutación sin sentido en el exón 8 (c.G809A:p.W270X), el paciente 2 una mutación no sinónima en el exón 9 (c.T935A:p.M312K), los pacientes 3 y 4, cuatro una mutación sin sentido en el exón 6 (c.T563G:p.L188X). Conclusiones: La técnica de secuenciación completa del exoma es de gran utilidad en el diagnóstico de la enfermedad granulomatosa crónica pues permite determinar mutaciones en los genes del sistema NADPH oxidasa y brindar la adecuada consejería genética al paciente y su familia. Los pacientes con enfermedad granulomatosa crónica presentaron una mutación ligada al cromosoma X en el gen CYBB, dos de ellas corresponden a mutaciones sin sentido y una es no sinónima.

Background: Several mutations have been described leading to impaired immunity in the IL-12/IFN-γ axis and, they confer susceptibility to mycobacterial infections. One of the more serious clinical phenotypes is secondary to mutations at IFN-γ receptor 1 gene, characterized by an early onset and more severe disease. Case report: We present a 3-month-old female patient with systemic M. tuberculosis complex who has a homozygous mutation, it affects the splicing site at IFNGR1 c.201-1G> T. At time of this report, she is with antimycobacterial treatment in the protocol of pluripotent hematopoietic cell transplantation (TCHP). Conclusion: It has been reported that antiphimic treatment should be maintained until the immune system is restored by the TCHP. If patients receive THCP before the age of 1 year old, they have a better prognosis. Diminish the levels of IFN-γ in plasma before the procedure is associated to better results. [ABSTRACT FROM AUTHOR]

El aumento de la supervivencia de los pacientes con inmunodeficiencia primaria (IDP) ha incrementado el riesgo de desarrollar cáncer, que en la actualidad oscila entre el 4 y el 25 %. Se exponen las IDP que se asocian con una alta incidencia de neoplasias: la inmunodeficiencia variable común, la deficiencia selectiva de IgA, la ataxia-telangiectasia, el síndrome de Wiskott-Aldrich, la inmunodeficiencia con timoma (síndrome de Good) y la enfermedad linfoproliferativa ligada al cromosoma X (síndrome de Duncan). Los mecanismos patogénicos implicados son diferentes en cada enfermedad y pueden incluir: defectos en la inmunovigilancia, aumento de la susceptibilidad cromosómica intrínseca a ciertos mutágenos, infecciones causadas por virus como el de Epstein Barr, inmunodesregulación de las células B por defectos de las células T reguladoras, entre otros.Rising survival rates among patients with primary immunodeficiency (PID) have increased the risk of developing cancer, which currently ranges between 4 and 25 %. A presentation is made of the PIDs associated with a high incidence of neoplasias: common variable immunodeficiency, selective IgA deficiency, ataxia-telangiectasia, Wiskott-Aldrich syndrome, immunodeficiency with thymoma (Good’s syndrome) and linfoproliferative disease linked to chromosome X (Duncan’s syndrome). The intervening pathogenic mechanisms are different for each disease and may include: inmmunosurveillance defects, increased chromosome susceptibility intrinsic to certain mutagens, infections caused by virus such as Epstein Barr, immunodysregulation of B cells due to defects in regulatory T cells, among others.

Inmunodeficiencia y autoinmunidad constituyen 2 polos de la respuesta inmunitaria que pueden interrelacionarse con cierta frecuencia. En este artículo se exponen los síndromes autoinmunes que son causados por inmunodeficiencias primarias. También se describen otras inmunodeficiencias primarias como la inmunodeficiencia variable común, el síndrome de hiper Ig M, la deficiencia selectiva de Ig A, la hipogammaglobulinemia ligada al cromosoma X, el síndrome de Di George, la enfermedad granulomatosa crónica, el síndrome de Wiskott Aldrich y los defectos del sistema complemento, las que pueden asociarse con frecuencia variable con manifestaciones autoinmunes, fundamentalmente hematológicas. El principal mecanismo inmunopatogénico es la estimulación antigénica persistente, debido a un defecto del sistema inmune para erradicar patógenos; además, se incluyen los defectos de células T reguladoras, desregulación en la proliferación homeostática secundaria a linfopenia y factores genéticos.The immunodeficiency and the self-immunity are two poles the immune response that may have interrelation each other with some frequency. In present paper are showed the autoimmune syndromes caused by primary immunodeficiencies. Also, are described other primary immunodeficiencies including common variable immunodeficiency, the hyper Ig M syndrome, the selective of Ig A deficiency, the hypogammaglobulinemia linked to X chromosome, the Digeorge's syndrome, the chronic granulomatous diseases, the Wiskott Aldrich's syndrome, and the complement system defects, those that with a variable frequency may be associated with self-immune manifestations, mainly the hematologic ones. The immuno-pathogen leading mechanism is the persistent antigenic stimulation due to a immune system defect to remove pathogens; also, are included the regulatory T cells defects, deregulation in homeostatic proliferation secondary to linphopenia and genetic factors.

Antecedentes: La rinosinusitis crónica es una enfermedad compleja con múltiples mecanismos fisiopatológicos identificados en los últimos años. Clásicamente la rinosinusitis se ha clasificado fenotípicamente en rinosinusitis crónica con pólipos y rinosinusitis crónica sin pólipos. Actualmente el enfoque alergológico ha proporcionado un nuevo método de clasificación fenotípica y endotípica, teniendo en cuenta biomarcadores (eosinofilia periférica, IgE total, pruebas cutáneas de alergia) y la presencia de factores asociados que puedan tener un impacto en el manejo (alergias, asma, intolerancia a los AINE, inmunodeficiencias primarias, síndrome de los cilios inmóviles, entre otros). Objetivo: Identificar las herramientas clinimétricas útiles para realizar una adecuada caracterización clínica de los pacientes con rinosinusitis crónica Métodos: Se presenta la evaluación integral realizada en un centro ambulatorio de Bogotá a los pacientes con rinosinusitis para buscar la caracterización clínica utilizando escalas de evaluación de síntomas (EPOS, SNOT-20), escalas de mejoría (escala visual análoga), escalas de calidad de vida, comorbilidades asociadas, estudios de imagenología (Mackey), biomarcadores séricos (conteo absoluto de eosinófilos, IgE total) y estudio inmunológico (inmunoglobulinas séricas y dinámica de anticuerpos). Conclusiones: Los diferentes fenotipos y endotipos de la rinosinusitis tienen respuestas diversas a los tratamientos, por lo que se requiere un enfoque integral. La alta asociación de la rinosinusitis crónica con inmunodeficiencias primarias obliga a sospecharlas en los pacientes con resistencia a los tratamientos.

Antecedentes: Las inmunodeficiencias primarias son enfermedades raras en las que el sistema inmune está alterado o no funciona adecuadamente; la mayoría es de origen genético. Actualmente se han descrito más de 350 enfermedades; la más frecuente es el defecto de anticuerpos, que incluye los específicos (SAD por sus siglas en inglés y las hipogammaglobulinemias). Objetivo: Mostrar el registro y caracterización de los pacientes que se encontraban en seguimiento en Cayre, centro ambulatorio de inmunodeficiencias primarias en Bogotá Métodos: Se revisaron las bases de datos de los pacientes con inmunodeficiencias primarias en seguimiento entre marzo de 2016 y marzo de 2017, con la descripción demográfica y caracterización clínica. Resultados: 169 pacientes estaban en el registro, 131 tenían diagnóstico confirmado y 38 estaban en estudio; 66 % era del sexo masculino. La edad de presentación osciló entre cinco y 10 años en 69 pacientes, entre cero y cuatro años en 28, entre 11 y 20 años en 17 y fue > 18 años en 17. La enfermedad más frecuente fue el defecto de anticuerpos (SAD, hipogammaglobulinemia) en 53 %, síndromes específicos (hiper IgE, Di George, Down, Turner y otros) en 30 %, enfermedades autoinflamatorias en 7 % y desórdenes por desregulación en 3 %. Conclusiones: Este reporte ilustra la importancia de llevar una base de datos en el seguimiento de los pacientes con inmunodeficiencias primarias para realizar la caracterización clínica que permite tener mejor conocimiento de estas enfermedades.

Antecedentes: Las inmunodeficiencias primarias no solo se expresan con susceptibilidad a infecciones, sino que pueden enmascararse con otras manifestaciones. La enfermedad granulomatosa crónica se caracteriza por susceptibilidad a infecciones por catalasas positivos. Objetivo: Describir dos gemelos lactantes cuya manifestación desde el primer mes fue colitis, considerada de origen alérgico. Reporte de casos: Gemelos masculinos de padres no consanguíneos, prematuros de 34 semanas, con antecedente de infección posnatal por citomegalovirus. Su historia clínica se inició en el primer mes de vida con deposiciones con sangre y dolor abdominal, que fueron manejados como alergia a la proteína de la leche; se prescribió dieta elemental y eliminación de la leche, sin mejoría. A los 15 meses se realizó colonoscopia y biopsia, que mostró colitis granulomatosa e hiperplasia nodular linfoide. El gemelo 1 presentó neumonías no complicadas a los cuatro y 10 meses, linfadenitis supurativa por Staphylococcus aureus a los siete meses e infección pulmonar por micobacterias a los 12 meses. El gemelo 2 recibió manejo para tuberculosis latente a los 12 meses y presentó cuadros de bacteriemias recurrentes por Salmonella sp. desde los dos años. La citometría de flujo para dihidrorodamina demostró defecto compatible con enfermedad granulomatosa crónica. El análisis de exoma detectó variante en CYBB. Al gemelo 1 se le realizó trasplante de células hematopoyéticas y el 2 continuó con manejo convencional. Conclusiones: Este reporte ilustra la importancia de sospechar que la colitis alérgica sin respuesta al manejo puede ser una manifestación temprana de colitis debida a inmunodeficiencia primaria, como enfermedad granulomatosa crónica.

In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance. Hyper-IgE syndrome in its dominant form includes non-immunological manifestations like characteristic facies, pathological dentition, scoliosis, bone disorders, and joint hyperextensibility. The reported cause of the dominant form is the loss of function of the signal transducer and activator of transcription 3 (STAT-3, with MIM # 102582). Mutations in dedicator of cytokines 8 (DOCK-8) is the most common cause of the autosomal recessive form of hyper-IgE syndrome. [ABSTRACT FROM AUTHOR]

Systemic lupus erythematosus (SLE) is a multisystemic disease with a variety of clinical presentations. Monogenic predisposing conditions to the development of this disease have been described. As examples, an impaired expression of interferon- regulated genes or complement deficiencies have been reported in patients with SLE, with particular clinical presentations. Those defects present particular presentations and a different severity, making an argument that lupus is not a single disease but many. Treatment could be individualized depending on the underlying defect generating the subtype of the disease. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Primary immunodeficiencies (PID) are underdi- agnosed all around the world, even at tertiary care centers. Antibody defects make the most prevalent defect group, and usually manifest themselves clinically after 6 months of age with recurrent respiratory infections caused by encapsulated bacteria. A number of ear-nose and throat surgeries are indicated in patients with recurrent or complicated respiratory infections, who have not adequately responded to medical therapy. These children who underwent a surgical procedure after a history of recurrent respiratory infections might constitute a high-risk group for PID. OBJECTIVE: To enquire how frequent antibody defects are among children with a history of respiratory infections who underwent any of three otolaryngology surgeries. METHODS: We reviewed the electronic medical records of children who underwent adenoid-tonsillectomy (ATT), endoscopic paranasal sinus drainage (ESD), and tympanic ventilation tube placement (TVT) at our center during 2011-2012, for serum immunoglobulins (IgE, IgG, IgA, IgM) levels. RESULTS: We found 112 surgical procedures in 87 patients. Of these, the indication for surgery was infectious in 37 (21 male, 1 dead, mean age 7.3 years), more often chronic rhinosinusitis (19/37) and tonsillitis (9/37). The procedures included: 24 ATT, 13 ESD, and 6 TVT, for a total of 43. Eight patients (21.6%) underwent more than one surgery. Serum IgE was found in 27 (72.9%), and "at-least-IgG" in 18 (48.6%). Only 70% of these tests were ordered before surgery. Abnormal results included: High IgE 10/27, high IgG 8/18, low IgG 1/18, high IgM 3/17, and high IgA 5/17. Two children with known Chronic granulomatous disease (CGD) were identified through this electronic search. DISCUSSION: We describe 37 patients who underwent ENT surgery for a history of complicated, recurrent or refractory respiratory infec- tions, of whom at least nine were allergic and at least two had PID (CGD). Only 18 of those 37 had IgG measured as part of their workup; an alarmingly low index of suspicion for antibody defects. Previous studies in adults with refractory CRS have found antibody defects. We intend to complete the immunological evaluation of the 37, includ- ing for specific antibody deficiency (SAD). "Red flags" such as IgE >2,000 IU/mL, complicated pneumonia, or Aspergillus sp. culture growth may prove to be useful to detect patients with previously undiagnosed PID. [ABSTRACT FROM AUTHOR]

Wiskott-Aldrich syndrome was first reported clinically in 1937, and in 1954 the classic triad was identified: eccema, recurrent infections and thrombocytopenia with an X-linked transmission. Its incidence is estimated at 1 to 10 in one million live births per year. Wiskott Aldrich syndrome is caused by mutations in a gene in the short arm of chromosome X that encodes the Wiskott-Aldrich syndrome protein (WASp), which identification and sequencing was first performed in 1994, and since then about 300 mutations have been reported. This paper describes the case of a boy with Wiskott-Aldrich syndrome, with clinical and genetic diagnosis, with a considerable diagnostic delay attributable to an atypical presentation misdiagnosed as immune thrombocytopenia. [ABSTRACT FROM AUTHOR]

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Chronic mucocutaneous candidiasis is characterized by infections caused by Candida sp, usually Candida albicans, which may be persistent or recurrent on skin, mucous membranes and nails; generally confined on the cutaneous surface and occasionally systemic dissemination. This can be associated to endocrinopathies and autoimmunity. We report a case of chronic mucocutaneous candidiasis with thyroid disease resilient to itraconazole with positive response to voriconazole and immunostimulation. [ABSTRACT FROM AUTHOR]

Introduction: The aim of the study was to assess the incidence of hospital admission due to severe acute respiratory infection by respiratory syncytial virus (RSV-ARI) in children with primary immunodeficiencies (PIDs) and the severity of RSV-ARI in these patients., Methods: We conducted a nationwide cross-sectional retrospective and prospective multicentre study in the 2011-2017 period. The study was performed in 15 Spanish hospitals and included children with PID who required hospital admission due to RSV-ARI., Results: Out of 439 patients with PID followed up at participating hospitals, 13 (3%) required hospital admission due to RSV-ARI. The median age of admitted patients was 1.6 years (interquartile range, 0.5-2.2), and 7 were male. The types of PID most frequently associated with admission due to RSV-ARI were combined immunodeficiency (CID; 4/71; 6%) and CID with associated or syndromic features (CIDwASF; 6/147; 4%). Two of the 13 patients were receiving palivizumab for RSV prophylaxis, and 3 received potentially active therapies against RSV during the hospital stay. Viral coinfection was detected in 6 patients, 5 (39%) developed complications, and 4 (31%) required admission to the paediatric intensive care unit. There were no documented RSV-related deaths., Conclusions: In the group of patients with PID, severe RSV infection requiring hospitalization is more frequent in patients with CID and CIDwASF, in whom special efforts should be made to prevent RSV infection. Further studies are needed to confirm these results., (Copyright © 2022. Published by Elsevier España, S.L.U.)

Down syndrome is associated with changes characteristic of primary immunodeficiencies, such as susceptibility to infection, autoimmunity and malignancy risk. However, it is not considered a primary immunodeficiency but rather a syndromatic deficiency, due to the relevance of the characteristic neurological delay. This article presents some arguments that consider Down syndrome as a primary immunodeficiency. [ABSTRACT FROM AUTHOR]

Aldrich syndrome (WAS) is an X-linked primary immunodeficiency, associated with WASP gene mutation that causes severe immunological abnormalities and alterations in platelet function. A seven year old male patient with WASP, began with acute abdominal pain, fever and knee swelling. The diagnosis of septic arthritis was made, and he was treated with broad-spectrum antibiotics and human gammaglobulin. During treatment he presented digestive tract bleeding with hypovolemic shock; after 72 hours palpable purpura in upper and lower extremities appeared. Then Henoch-Schönlein purpura with abdominal vasculitis was suspected, and later confirmed by histopathology. Methylprednisolone pulses were initiated, showing improvement within 24 hours. The patient had a severe inflammatory reaction, caused by a serious infectious disease, but the clinical evolution suggested an autoimmune disease such as Henoch-Schönlein purpura. Up to 20% of patients with WAS have autoimmune manifestations of vasculitis. An early diagnosis of autoimmunity in WAS is important for a favorable clinical outcome. [ABSTRACT FROM AUTHOR]

Severe congenital neutropenia is a primary immunodeficiency; the lack of maturation of neutrophil precursor in bone marrow and severe neutropenia are the subjacent characteristics which explain a marked susceptibility to severe and recurrent infections; bacteria and fungi are the most common etiologic agents. We report the case of an infant with severe congenital neutropenia that began at 4 days from birth with perianal abscess infections, sepsis, liver abscess, gingivitis and oral ulcers; she required multiple hospitalizations because of the severity of the infections. Isolated agents were Pseudomonas aeruginosa, Staphylococcus hominis and Klebsiella sp. The bone marrow examination showed maturation arrest of myeloid forms, thus confirming the diagnosis of severe congenital neutropenia. Granulocyte colony-stimulating factor was started. The severe congenital neutropenia should be considered in patients with neutropenia and infections in the first month of life. Early diagnosis and treatment improve survival and quality of life of these patients. [ABSTRACT FROM AUTHOR]

The Wiskott-Aldrich syndrome is a primary immunodeficiency characterized by congenital microthrombocytopenia, eczema and recurrent infections. This paper reports the case of a 3-year-6-month male patient, whose maternal uncle died at the age of 3 months due to fulminant sepsis from a pulmonary infection. The patient was a product of the first pregnancy, he was born at 27 weeks’ gestation and weighed 1,400 g. As a neonate he was hospitalized during the first 2 months of life because of a low gastrointestinal bleeding, thrombocytopenia and severe infections. In the next 4 months and before coming to our hospital the infant was hospitalized 54 times. On admission he presented disseminated dermatosis, enlarged neck lymph nodes and psychomotor retardation. Laboratory studies revealed hemoglobin 8.1 g/dL, platelets 31,000/uL, mean platelet volume 5.6 fL, IgM 39.3 mg/dL, IgA 67 mg/dl, IgG 1,380 mg/dl. On several occasions he received globular packages and platelet concentrates. The infusion of immunoglobulin G was started every 21 days. Bone marrow transplantation was delayed due to the complications that merited 13 hospitalizations and severe thrombocytopenia, low gastrointestinal bleeding, septic arthritis, infectious gastroenteritis, chronic suppurative otitis media and severe folliculitis. At the age of 4 years BMT of cord was performed, and 26 days after transplantation he presented septic shock and died. The prognosis of bone marrow transplantation in Wiskott-Aldrich syndrome and in other primary immunodeficiencies depends on the promptness of its performance at early stages in life. It is important that the first contact physicians be aware of the primary immunodeficiency signs and symptoms. [ABSTRACT FROM AUTHOR]