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INTRODUCTION: Hematopoietic stem cell transplantation (HSCT) is a widely used therapy, but its success largely depends on the number and quality of stem cells collected. Current evidence shows the complexity of the hematopoietic system, which implies that, in the quality assurance of the apheresis product, the hematopoietic stem cells are adequately characterized and quantified, in which mass cytometry (MC) can provide its advantages in high-dimensional analysis. OBJECTIVE: This research aimed to characterize and enumerate CD45dim/CD34+ stem cells using the MC in apheresis product yields from patients with chronic lymphoid malignant diseases undergoing autologous transplantation at the Abu Dhabi Stem Cells Center. METHODS: An analytical and cross-sectional study was performed on 31 apheresis products from 15 patients diagnosed with multiple myeloma (n = 9) and non-Hodgkin lymphomas (n = 6) eligible for HSCT. The MC was employed using the MaxPar Kit for stem cell immunophenotyping. The analysis was performed manually in the Kaluza and unsupervised by machine learning in Cytobank Premium. RESULTS: An excellent agreement was found between mass and flow cytometry for the relative and absolute counts of CD45dim/CD34+ cells (Bland-Altman bias: -0.029 and -64, respectively), seven subpopulations were phenotyped and no lineage bias was detected for any of the methods used in the pool of collected cells. A CD34+/CD38+/CD138+ population was seen in the analyses performed on four patients with multiple myeloma. CONCLUSIONS: The MC helps to characterize subpopulations of stem cells in apheresis products. It also allows cell quantification by double platform. Unsupervised analysis allows results completion and validation of the manual strategy. The proposed methodology can be extended to apheresis products for purposes other than HSCT.

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Introducción: La enfermedad de Behcet es un proceso autoinflamatorio crónico que afecta arterias y venas de todos los calibres. Participan factores genéticos, microbianos e inmunológicos. Cursa con úlceras orales, genitales e inflamación ocular. Objetivo: Describir los trastornos inmunitarios en un paciente pediátrico con enfermedad de Behcet. Presentación del caso: Paciente masculino de 16 años de edad, con diagnóstico clínico de enfermedad de Behcet con marcadores serológicos de autoinmunidad negativa. Las inmunoglobulinas séricas exhibieron valores normales. Las subpoblaciones linfocitarias T CD3+CD4+ y CD3+CD8+ estuvieron elevadas. Las células B totales mostraron valores porcentuales normales, sin embargo, la subpoblación B CD5+CD19+ se encontró por encima de los valores referenciales. El paciente respondió favorablemente en relación con el curso de las infecciones a la terapia con inmunoestimulantes. Conclusiones: El tratamiento para la enfermedad de Behcet debe ser individualizado. Se debe tener en cuenta la gravedad del órgano afectado y el índice de recurrencias. Se requiere de un grupo interdisciplinario para llegar al adecuado control de la enfermedad.

Introduction: Behcet's disease is a chronic autoinflammatory process, of low frequency and unknown etiology that affects arteries and veins of all sizes, where genetic, microbial and immunological factors participate. It presents with oral and genital ulcers and ocular inflammation. Objective: To evaluate the immune disorders in a pediatric patient with Behcet's disease. Case presentation: A 16-year-old male patient with a clinical diagnosis of Behcet's disease with negative autoimmunity serological markers. Immunoglobulins exhibited normal values. CD3+CD4+ and CD3+CD8+T lymphocyte subpopulations were elevated. The B cells showed normal percentage values, however the CD5+CD19+ subpopulation B was found to be above the reference values. The patient responded favorably in relation to the course of the infections, to the therapy with immune stimulants. Conclusions: Treatment must be individualized, taking into account the severity of the affected organ and the recurrence rate. An interdisciplinary group is required to achieve adequate control of the disease.

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Different biomarkers for SARS-CoV-2 have been linked to detection, diagnosis, treatment, disease progression, and development of new drugs and vaccines. The objective of this research was to evaluate various hematological, biochemicals, immunological, radiological and spirometric parameters in 20 adult patients convalescing from COVID-19 and their possible relationship with the clinical course of the disease. The frequencies of categorical variables were compared using the chi-square and Fisher's exact test. The levels of statistical significance were denoted in each figure legend. Two-dimensional clustering analysis was performed using MeV software from TIGR. The tests with P value of ≤ 0.05 were considered statistically significant. Most of the patients studied presented alterations in dissimilar laboratory, radiological and spirometric parameters, which were related to the clinical evolution of the disease. The results obtained show that certain hematological, biochemical, immunological and radiological parameters can be considered as biomarkers of sequela in adult COVID-19 patients, which allows their stratification, according to the degree of involvement or sequela, into three groups: I (mild degree of involvement or sequela), without lung lesions on computerized axial tomography (CT scan) and high values of IgG, C3 and hemoglobin, II (moderate degree of involvement or sequel), without lung lesions on CT scan, characterized by high levels of CD3+/CD4+ T lymphocytes and the rest of the variables with low values and III (severe degree of involvement or sequela), with lung lesions on CT scan and high values of erythrocyte sedimentation rate, monocytes and neutrophils, associated with lymphopenia and decreased concentrations of IgG and C3.

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Introducción: La agammaglobulinemia de Bruton es una inmunodeficiencia primaria (IDP) originada por una mutación del gen que codifica la tirosina kinasa de Bruton (BTK). Se sospecha principalmente en varones con infecciones frecuentes de las vías respiratorias y tiene entre otras complicaciones, los tumores, fundamentalmente linfoproliferativos. Se reportan agammaglobulinemias autosómicas recesivas con similares características clínicas en ambos sexos. Objetivo: Presentar el primer caso pediátrico reportado en Cuba, con diagnóstico de linfoma de Burkitt asociado a esta inmunodeficiencia primaria y que además utilizó tratamiento combinado sustitutivo de inmunoglobulinas y antitumoral. Presentación del caso: Paciente masculino, que a los 2 años se le realizó diagnóstico de enfermedad de Bruton. Con el tratamiento de reemplazo con inmunoglobulina endovenosa (Intacglobín) se mantuvo tres años sin infecciones graves. A los 5 años de edad presentó linfoma de Burkitt, tratado con poliquimioterapia, según el esquema AEIOP al que se asoció rituximab. Aunque no se dispone de la detección por biología molecular de la mutación del gen BTK, la disminución por debajo del 2 por ciento de las células B CD19+ y los valores ausentes de IgG, IgA e IgM permitieron el diagnóstico. Conclusión: Coexistieron con resultados clínicos satisfactorios el tratamiento antitumoral y la terapia de reemplazo con inmunoglobulina endovenosa. El paciente se mantiene con buen estado general(AU)

Introduction: Bruton's Agammaglobulinemia is a primary immunodeficiency (PID) caused by a mutation in the gene that encodes Bruton's tyrosine kinase (BTK). It is suspected mainly in men with frequent respiratory tract infections and has, among other complications, tumors, mainly lymphoproliferative. Autosomal recessive agammaglobulinemias with similar clinical characteristics have been reported in both sexes. Objective: To present the first pediatric case reported in Cuba, with a diagnosis of Burkitt's lymphoma associated with PID and that also used combined immunoglobulin replacement and antitumor therapy. Case report: 2-year-old male diagnosed with Bruton's disease. With the replacement treatment with intravenous immunoglobulin (Intacglobin), he maintained three years without serious infections. At 5 years of age, he presented Burkitt's lymphoma, treated with polychemotherapy according to the AEIOP scheme, associating Rituximab. Although do not have molecular biology detection of the BTK gene mutation, the decrease of CD19 + B cells to below 2 percent and the absent values of IgG, IgA and IgM allowed the diagnosis. Conclusion: Antitumor treatment and intravenous immunoglobulin replacement therapy coexisted with satisfactory clinical results. The patient remains in good general condition(AU)

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Introducción: El síndrome de Behcet, o enfermedad de Behcet, es un proceso autoinflamatorio crónico, poco frecuente, de etiología desconocida. Es una vasculitis que afecta arterias y venas de todos los calibres, con alteración de la función endotelial, que se expresa clínicamente con lesiones orgánicas variadas. En su fisiopatogenia intervienen factores genéticos, microbianos e inmunológicos. Los síntomas más comunes son las úlceras orales y genitales, inflamaciones oculares (uveítis, retinitis e iritis), lesiones de piel y artritis. Objetivo: Evaluar diversos marcadores de la respuesta inmune en paciente con síndrome de Behcet. Presentación del caso: Paciente masculino. 39 años de edad, con diagnóstico clínico de enfermedad de Behcet con reactantes de fase aguda y marcadores serológicos de autoinmunidad negativa. Las subpoblaciones linfocitarias están dentro de los valores referenciales, sin evidencias de activación linfocitaria. La presencia de una doble población de linfocitos B y los antecedentes familiares, sugieren la existencia de una población de linfocitos B de autoreconocimiento y la posible presencia de factores genéticos, respectivamente. El paciente respondió favorablemente a la terapia con esteroides. Conclusiones: El estudio apoya el criterio de que, en condiciones basales, no se detectan marcadores humorales de autoinmunidad, alteraciones de los valores de las subpoblaciones linfocitarias, ni evidencias de activación linfocitaria, pero no se puede excluir la presencia de una población de linfocitos B de autoreconocimiento(AU)

Introduction: Behcet's syndrome, also known as Behcet's disease is a chronic autoinflammatory process of low frequency and unknown etiology. It's an all sizes arteries and veins affecting vasculitis that causes an alteration of endothelial function and is expressed clinically by organ damage at various levels. Its pathogenesis involves genetic, microbial and immunological factors. The most common symptoms are oral and genital ulcers, eye inflammation (uveitis, iritis and retinitis), skin lesions and arthritis. Objective: to evaluate several inmunological markers in a patient with Behcet syndrome. Case presentation: 39 years old masculine patientwith clinical diagnosis of Behcet disease with negative acute phase reactants and serological authoinmunity markers and lymphocyte populations within referential range, without evidences of lymphocyte activation. The presence of a double B lymphocyte population and familial background, suggest the presence of a self recognitionB lymphocyte population and the probable presence of genetic factors, respectively. There was a good response to steroids treatment. Conclusions: The study supports the idea that at baseline, not humoral autoimmunity markers, changes in the values of lymphocyte subpopulations, and evidence of lymphocyte activation is detected, but can not exclude the presence of a population of B lymphocytes self-recognition(AU)

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RESUMEN Introducción: Las inmunodeficiencias primarias son enfermedades genéticas. Están constituidas por más de 200 enfermedades que tienen en común las infecciones recurrentes. La inmunodeficiencia combinada se caracteriza por episodios de sepsis recurrentes del aparato respiratorio, digestivo y de piel sobre todo por gérmenes oportunistas. El cuadro clínico es muy variable y se conocen múltiples fenotipos clínicos. Objetivo: Evaluar las manifestaciones clínicas e inmunológicas de la inmunodeficiencia primaria combinada no grave a través de un caso. Presentación de caso: Se trata un lactante de 8 meses de edad, masculino, blanco, que presentó múltiples infecciones respiratorias y digestivas, intolerancia a la leche, asociado a sibilancias recurrentes y manifestaciones exantemáticas. Tuvo varios ingresos incluso en terapia intensiva por sepsis grave y cumplió tratamientos con penicilinas, cefalosporinas, sulfas, fosfocina, vancomicina y metronidazol. El estudio inmunológico reveló una marcada disminución de las subpoblaciones linfocitarias y concentraciones disminuidas de la subclase de IgG4. Se estableció el diagnóstico de inmunodeficiencia primaria del tipo combinada no grave. El tratamiento utilizado incluyó gammaglobulina endovenosa y el factor de transferencia. Se confirmó una mejoría clínica evidente. Conclusiones: Las infecciones recurrentes junto con los resultados de los estudios permitieron diagnosticar esta inmunodeficiencia primaria. El diagnóstico precoz y el tratamiento oportuno mejoran la calidad de vida del paciente.

ABSTRACT Introduction: Primary immunodeficiencies are genetic diseases. They are made up of more than 200 diseases that have recurrent infections in common. Combined immunodeficiency is characterized by recurrent episodes of sepsis of the respiratory, digestive and skin system, especially opportunistic germs. The clinical picture is highly variable and multiple clinical phenotypes are known. Objective: Assess the clinical and immunological manifestations of non-severe combined primary immunodeficiency through a case. Case presentation: 8-month-old male, white infant who presented multiple respiratory and digestive infections, milk intolerance, associated with recurrent wheezing and exanthematic manifestations. He had several hospitalizations even in the intensive care service due to severe sepsis and completed treatments with penicillins, cephalosporins, sulfas, phosphocin, vancomycin and metronidazole. The immunological study revealed a marked decrease in lymphocyte subpopulations and decreased concentrations of the IgG4 subclass. The diagnosis of primary immunodeficiency of the non-severe combined type was established. The treatment used included intravenous gamma globulin and transfer factor. An evident clinical improvement was confirmed. Conclusions: The recurrent infections together with the results of the studies allowed to diagnose this primary immunodeficiency. Early diagnosis and timely treatment improve the patient's quality of life.

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Introducción: El síndrome de hiperIgE es una inmunodeficiencia primaria poco frecuente de etiología desconocida, con afectación multisistémica; causada por mutaciones dominantes del gen que codifica la proteína transductora de señal y activadora de la transcripción, STAT-3, por lo que condiciona un déficit en la generación de las células Th17 a partir de las células T CD4+ y explica la susceptibilidad de estos pacientes a las infecciones por Stafilococus aureus y Cándida albicans. Objetivo: Contribuir al conocimiento de esta inmunodeficiencia para su detección precoz y tratamiento oportuno. Presentación del caso: Se trata de una lactante, con puente nasal amplio, hiperlaxitud, erupción eccematosa desde el período neonatal, infecciones cutáneas, óticas, pulmonares con presencia de neumatoceles y candidiasis mucocutánea. Se detectaron concentraciones elevadas de IgE sérica y eosinofília. Se trató con inmunomoduladores, antihistamínicos, antimicrobianos y vitaminoterapia. Se logró mejoría clínica. Conclusiones: El síndrome de hiperIgE-AD es una inmunodeficiencia primaria poco frecuente caracterizada por altas concentraciones de IgE, eosinofilia, abscesos cutáneos, eccemas, candidiasis mucocutánea crónica e infecciones pulmonares recidivantes, neumatoceles y bronquiectasias; también se presentan alteraciones del tejido conectivo, esquelético y vascular. Se requiere de alto grado de sospecha clínica y es importante la atención precoz de las infecciones, que en general presentan una respuesta tórpida sistémica. Las alternativas terapéuticas están dirigidas a prevenir la sepsis y al control de los síntomas(AU)

Introduction: Hyper IgE syndrome is a rare primary immunodeficiency of unknown etiology, with multi systemic impact; it is caused by dominant mutations of the gene that codifies the protein transducer of signal and activator of transcription (STAT-3), therefore it determines a deficit in the generation of Th17 cells from T CD4+ cells, and explains the sensitivity of these patients to the infections caused by Stafilococus aureus and Candida albicans. Objective: Contribute to the knowledge of this immunodeficiency for its early detection and timely treatment. Case presentation: Newborn with wide nasal bridge, hypermovility, eczematose rash since the neonatal period; cutaneous, ear, and pulmonary infections with presence of neumotoceles and mucocutaneous candidiasis. There were detected high concentrations of seric IgE and eosinophilia. The patient was treated with immunomodulators, antihestamines, antimicrobial drugs and vitaminotherapy. It was achieved a clinical improvement. Conclusions: Hyper IgE syndrome-AD is a rare primary immunodeficiency characterized by high concentrations of IgE, eosinophilia, cutaneous abscesses, eczemas, chronical mucocutaneous candidiasis and recurrent pulmonary infections, neumatoceles and bronchiectasis; it also presents alterations in the connective, skeletal and vascular tissue. It is required a high level of clinical suspicion and it is important the early care of the infections, which generally present a systemic torpid response. The therapeutic alternatives are directed to prevent a sepsis and to control the symptoms(AU)

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