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1.
J Allergy Clin Immunol ; 153(1): 330-334, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37678573

RESUMEN

BACKGROUND: Newborn screening (NBS) programs for severe combined immunodeficiency facilitate early diagnosis of severe combined immunodeficiency and promote early treatment with hematopoietic stem cell transplantation, resulting in improved clinical outcomes. Infants with congenital athymia are also identified through NBS because of severe T-cell lymphopenia. With the expanding introduction of NBS programs, referrals of athymic patients for treatment with thymus transplantation have recently increased at Great Ormond Street Hospital (GOSH) (London, United Kingdom). OBJECTIVE: We studied the impact of NBS on timely diagnosis and treatment of athymic infants with thymus transplantation at GOSH. METHODS: We compared age at referral and complications between athymic infants diagnosed after clinical presentation (n = 25) and infants identified through NBS (n = 19) who were referred for thymus transplantation at GOSH between October 2019 and February 2023. We assessed whether age at time of treatment influences thymic output at 6 and 12 months after transplantation. RESULTS: The infants referred after identification through NBS were significantly younger and had fewer complications, in particular fewer infections. All deaths occurred in the group of those who did not undergo NBS, including 6 patients before and 2 after thymus transplantation because of preexisting infections. In the absence of significant comorbidities or diagnostic uncertainties, timely treatment was achieved more frequently after NBS. Treatment when younger than age 4 months was associated with higher thymic output at 6 and 12 months after transplantation. CONCLUSION: NBS contributes to earlier recognition of congenital athymia, promoting referral of athymic patients for thymus transplantation before they acquire infections or other complications and facilitating treatment at a younger age, thus playing an important role in improving their outcomes.


Asunto(s)
Síndromes de Inmunodeficiencia , Inmunodeficiencia Combinada Grave , Lactante , Recién Nacido , Humanos , Inmunodeficiencia Combinada Grave/diagnóstico , Inmunodeficiencia Combinada Grave/terapia , Tamizaje Neonatal , Timo
2.
J Clin Immunol ; 43(5): 1019-1031, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-36930409

RESUMEN

PURPOSE: There is a lack of data on post-HSCT non-osteopenic bone pathology specifically for children with inborn errors of immunity (IEI). We collected data on non-osteopenic bone pathology in children with IEI post-HSCT over two decades in a large tertiary pediatric immunology center. METHODS: Descriptive study with data analysis of bone pathology in allo-HSCT for IEI was performed between 1/1/2000 to 31/12/2018 including patients alive at follow-up to July 2022. Records were analyzed for bone pathology and risk factors. Exclusion criteria included isolated reduced bone density, fractures, and skeletal anomalies due to underlying IEI and short stature without other bone pathology. Bone pathologies were divided into 5 categories: bone tumors; skeletal dysplasia; avascular necrosis; evolving bone deformities; slipped upper femoral epiphysis. RESULTS: A total of 429 children received HSCT between 2000 and 2018; 340 are alive at last assessment. Non-osteopenic bone pathology was observed post-HSCT in 9.4% of patients (32/340, mean 7.8 years post-HSCT). Eleven patients (34%) had > 1 category of bone pathology. Seventeen patients (17/32; 53%) presented with bilateral bone pathology. The majority of patients received treosulfan-based conditioning (26/32; 81.2%). Totally, 65.6% (21/32) of patients had a history of prolonged steroid use (> 6 months). Pain was the presenting symptom in 66% of patients, and surgical intervention was required in 43.7%. The highest incidence of bone pathologies was seen in Wiskott-Aldrich syndrome (WAS) (n = 8/34; 23.5%) followed by hemophagocytic lymphohistiocytosis patients (n = 3/16; 18.8%). CONCLUSION: Non-osteopenic bone pathology in long-term survivors of allo-HSCT for IEI is not rare. Most patients did not present with complaints until at least 5 years post-HSCT highlighting the need for ongoing bone health assessment for patients with IEI. Children presenting with stunted growth and bone pathology post-HSCT should undergo skeletal survey to rule out development of post-HSCT skeletal dysplasia. Increased rates and complexity of bone pathology were seen amongst patients with Wiskott-Aldrich syndrome.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Linfohistiocitosis Hemofagocítica , Síndrome de Wiskott-Aldrich , Niño , Humanos , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Factores de Riesgo , Linfohistiocitosis Hemofagocítica/etiología , Incidencia , Estudios Retrospectivos , Acondicionamiento Pretrasplante
3.
Br J Haematol ; 195(2): 249-255, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34431085

RESUMEN

Chronic active Epstein-Barr virus (CAEBV) disease is a rare condition characterised by persistent EBV infection in previously healthy individuals. Defective EBV genomes were found in East Asian patients with CAEBV. In the present study, we sequenced 14 blood EBV samples from three UK patients with CAEBV, comparing the results with saliva CAEBV samples and other conditions. We observed EBV deletions in blood, some of which may disrupt viral replication, but not saliva in CAEBV. Deletions were lost overtime after successful treatment. These findings are compatible with CAEBV being associated with the evolution and persistence of EBV+ haematological clones that are lost on successful treatment.


Asunto(s)
Infecciones por Virus de Epstein-Barr/sangre , Herpesvirus Humano 4/genética , Saliva/metabolismo , Eliminación de Secuencia/genética , Adolescente , Biomarcadores/análisis , Estudios de Casos y Controles , Niño , Preescolar , Enfermedad Crónica , Virus Defectuosos/genética , Infecciones por Virus de Epstein-Barr/tratamiento farmacológico , Infecciones por Virus de Epstein-Barr/epidemiología , Asia Oriental/epidemiología , Femenino , Humanos , Factores Inmunológicos/uso terapéutico , Masculino , Trasplante de Células Madre de Sangre Periférica/métodos , Polimorfismo de Nucleótido Simple/genética , Rituximab/uso terapéutico , Resultado del Tratamiento , Replicación Viral/genética
4.
Lancet ; 400(10351): 485-486, 2022 08 13.
Artículo en Inglés | MEDLINE | ID: mdl-35964601
6.
Indian J Pathol Microbiol ; 64(2): 347-350, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33851632

RESUMEN

Immature platelet fraction (IPF) is a quantification of immature platelets in the circulation reflecting the state of thrombopoiesis in the marrow. Normal reference range for IPF has been established in adults. Reference intervals in neonates are highly dependent on gestational age of the neonate. Complete blood counts (CBC) with IPF of all neonates admitted in neonatal intensive care unit (NICU) were analyzed using Mindray BC-6800 Auto Hematology analyzer. Platelet count of less than 150 × 10^9/L was assigned as thrombocytopenia. Neonates were divided into four groups as per the corrected gestational age (CGA) on the day of CBC analysis: 28-32 weeks, 32-34 weeks, 34-37 weeks, and >37 weeks according to World Health Organization (WHO) classification. Mean, standard deviation, and 95% confidence interval for IPF was calculated in each group and reference range for IPF was derived. Mean IPF in neonates with normal platelet count was term--3.58 (95% CI 3.29 to 3.87), late preterm Neonates (34-37 weeks)--4.14 (95% CI 3.82 to 5.0), moderate preterm neonates (32-34 weeks)--4.14 (95% CI 3.46 to 4.82), and in Very Preterm neonates (28-32 weeks)--IPF of 5.51 (95% CI 3.95 to 7.07). We aimed to establish a reference range for IPF in neonates of different gestational age groups. The IPF values in neonates were comparable between hematology analyzers in neonates with normal platelet counts.


Asunto(s)
Plaquetas/citología , Plaquetas/fisiología , Trombocitopenia/diagnóstico , Edad Gestacional , Humanos , Lactante , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Recuento de Plaquetas , Estándares de Referencia , Valores de Referencia , Trombopoyesis/fisiología
7.
Front Immunol ; 12: 631298, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33732252

RESUMEN

Mendelian Susceptibility to Mycobacterial diseases (MSMD) are a group of innate immune defects with more than 17 genes and 32 clinical phenotypes identified. Defects in the IFN-γ mediated immunity lead to an increased susceptibility to intracellular pathogens like mycobacteria including attenuated Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccine strains and non-tuberculous environmental mycobacteria (NTM), Salmonella, fungi, parasites like Leishmania and some viruses, in otherwise healthy individuals. Mutations in the IL12RB1 gene are the commonest genetic defects identified. This retrospective study reports the clinical, immunological, and molecular characteristics of a cohort of 55 MSMD patients from 10 centers across India. Mycobacterial infection was confirmed by GeneXpert, Histopathology, and acid fast bacilli staining. Immunological workup included lymphocyte subset analysis, Nitro blue tetrazolium (NBT) test, immunoglobulin levels, and flow-cytometric evaluation of the IFN-γ mediated immunity. Genetic analysis was done by next generation sequencing (NGS). Disseminated BCG-osis was the commonest presenting manifestation (82%) with a median age of presentation of 6 months due to the practice of BCG vaccination at birth. This was followed by infection with Salmonella and non-typhi Salmonella (13%), Cytomegalovirus (CMV) (11%), Candida (7%), NTM (4%), and Histoplasma (2%). Thirty-six percent of patients in cohort were infected by more than one organism. This study is the largest cohort of MSMD patients reported from India to the best of our knowledge and we highlight the importance of work up for IL-12/IL-23/ISG15/IFN-γ circuit in all patients with BCG-osis and suspected MSMD irrespective of age.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Inmunidad Innata/genética , Mutación , Infecciones por Mycobacterium/genética , Infecciones por Mycobacterium/inmunología , Adolescente , Adulto , Vacuna BCG/inmunología , Niño , Preescolar , Coinfección/epidemiología , Coinfección/microbiología , Femenino , Predisposición Genética a la Enfermedad/epidemiología , Humanos , India/epidemiología , Lactante , Recién Nacido , Masculino , Infecciones por Mycobacterium/epidemiología , Infecciones por Mycobacterium/microbiología , Fenotipo , Receptores de Interleucina-12/genética , Receptores de Interleucina-12/inmunología , Estudios Retrospectivos , Adulto Joven
8.
Indian J Pediatr ; 85(1): 10-14, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28842812

RESUMEN

OBJECTIVE: To prospectively validate association between the ratio of platelet distribution width (PDW)/platelet count (PCT) and pediatric intensive care unit (PICU) mortality. METHODS: The study was done in the pediatric intensive care unit (PICU). Platelet indices in the first sample taken after admission were used. In this case control analysis, cases were the patients who died in PICU and the survivors served as controls. Consecutive 209 eligible patients over a period of 15 mo from January 2014 through March 2015 were included. Exposure was PDW/PC above 0.07. Of them 174 survived and 35 died. RESULTS: The mean PDW for survivors was 16.77 (±0.92) and for those who died it was 17.33 (±1.03) (p 0.0015). Mean platelet count (PC) for survivors was 3,46,000 (±1,64,700) and for those who died it was 1,75,800 (±1,61,500) (p < 0.001). PDW/PC for survivors was 0.12 (±0.46) and for those who died it was 0.336 (±0.53) (p 0.0014). Using the cut-off of 0.07 for PDW/PC described by Golwala et al., 77.14% above the cut-off died, compared to 22.85% below that cut-off. The odds ratio (OR) for death was 10.6 (95% CI: 4.48 to 25.12). The area under the receiver operating curve (ROC) curve for PDW/PC ratio was 0.81. CONCLUSIONS: The ratio of PDW/PC, higher than 0.07 in the first sample after admission can be considered as an independent predictor of mortality with sensitivity and specificity of 77.1% and 77.5%, respectively. It may be a useful component for inclusion in composite scores for predicting mortality.


Asunto(s)
Volúmen Plaquetario Medio , Recuento de Plaquetas , Índice de Severidad de la Enfermedad , Niño , Preescolar , Enfermedad Crítica/mortalidad , Humanos , Lactante , Unidades de Cuidado Intensivo Pediátrico/estadística & datos numéricos , Masculino , Pronóstico
9.
Afr Health Sci ; 16(2): 356-62, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-27605950

RESUMEN

BACKGROUND: Thrombocytopenia has been shown to predict mortality. We hypothesize that platelet indices may be more useful prognostic indicators. Our study subjects were children one month to 14 years old admitted to our hospital. AIM: To determine whether platelet count, plateletcrit (PCT), mean platelet volume (MPV) and platelet distribution width (PDW) and their ratios can predict mortality in hospitalised children. METHODS: Children who died during hospital stay were the cases. Controls were age matched children admitted contemporaneously. The first blood sample after admission was used for analysis. Receiver operating characteristic (ROC) curve was used to identify the best threshold for measured variables and the ratios studied. Multiple regression analysis was done to identify independent predictors of mortality. RESULTS: Forty cases and forty controls were studied. Platelet count, PCT and the ratios of MPV/Platelet count, MPV/PCT, PDW/Platelet count, PDW/PCT and MPV × PDW/Platelet count × PCT were significantly different among children who survived compared to those who died. On multiple regression analysis the ratio of MPV/PCT, PDW/Platelet count and MPV/Platelet count were risk factors for mortality with an odds ratio of 4.31(95% CI, 1.69-10.99), 3.86 (95% CI, 1.53-9.75), 3.45 (95% CI, 1.38-8.64) respectively. In 67% of the patients who died MPV/PCT ratio was above 41.8 and PDW/Platelet count was above 3.86. In 65% of patients who died MPV/Platelet count was above 3.45. CONCLUSION: The MPV/PCT, PDW/Platelet count and MPV/Platelet count, in the first sample after admission in this case control study were predictors of mortality and could predict 65% to 67% of deaths accurately.


Asunto(s)
Plaquetas/patología , Causas de Muerte , Mortalidad Hospitalaria/tendencias , Volúmen Plaquetario Medio , Recuento de Plaquetas , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Hospitalización/estadística & datos numéricos , Hospitales Urbanos , Humanos , India , Lactante , Masculino , Análisis Multivariante , Activación Plaquetaria , Valor Predictivo de las Pruebas , Curva ROC , Estadísticas no Paramétricas , Centros de Atención Terciaria
10.
J Glob Infect Dis ; 5(2): 89-90, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23853442
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