Allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies: Hospital Israelita Albert Einstein experience

Fernandes, Juliana Folloni; Kerbauy, Fábio R.; Ribeiro, Andreza Alice Feitosa; Kutner, José Mauro; Camargo, Luís Fernando Aranha; Stape, Adalberto; Troster, Eduardo Juan; Zamperlini–Netto, Gabriele; Azambuja, Alessandra; Carvalho, B.T. Costa; Dorna, Mayra de Barros; Vilela, Marluce dos Santos; Jacob, Cristina Miuki Abe; Costa‐Carvalho, Beatriz Tavares; Cunha, José Marcos Telles da; Carneiro‐Sampaio, Magda; Hamerschlak, Nelson

doi:10.1590/s1679-45082011ao2007

Cited by 5 publications

(4 citation statements)

References 8 publications

(9 reference statements)

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“…Brazilian studies on HCT for CGD are still scarce. 5,6 HCT is indicated for all patients with poorly controlled CGD and for those with significant morbidity, such as recurrent life-threatening infections or progressive lung disease. 14 Among patients with CGD, survival after HCT has increased due to several factors, such as reduced-toxicity conditioning, better cell sources and donor selection, advances in antimicrobial therapy, and younger age at HCT.…”

Section: Discussionmentioning

confidence: 99%

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Chronic granulomatous disease: clinical characteristics, follow-up, and therapy of 5 pediatric patients

Melo,

Ribeiro,

Valente

et al. 2023

AAAI

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Introdução: A doença granulomatosa crônica (DGC) é caracterizada por um defeito na capacidade microbicida das células fagocíticas (monócitos e neutrófilos), com alta mortalidade se não diagnosticada precocemente. Os pacientes apresentam infecções recorrentes ou graves, suscetibilidade a granulomas em órgãos profundos, doenças autoimunes e doença inflamatória intestinal. Objetivo e Método: Relato de aspectos clínicos e do tratamento de cinco pacientes com doença granulomatosa crônica. Resultados: Cinco pacientes, três meninos, medianas de idade no início dos sintomas e diagnóstico de 8 meses e 48 meses, respectivamente, foram estudados por um período de 10 anos. Pneumonia (5/5) e doença micobacteriana (3/5) foram as manifestações iniciais mais comuns. Alterações pulmonares foram observadas em todos os casos. Mutações nos genes CYBB e NCF1 foram identificadas em três casos. Antibioticoprofilaxia foi instituída em todos os pacientes e três foram submetidos ao transplante de células tronco-hematopoiéticas (TCH), aos 7, 18 e 19 anos e com sobrevida atual entre 4 a 5 anos. Conclusão: O monitoramento cuidadoso de infecções graves com tratamento imediato foi crucial para a sobrevivência. O TCH, mesmo ao final da adolescência, promoveu a cura da DGC em três pacientes.Descritores: Doença granulomatosa crônica, fagócitos, NADPH oxidases, transplante de medula óssea Introduction: Chronic granulomatous disease (CGD) is characterized by a defective microbicidal capacity of phagocytic cells (monocytes and neutrophils) with high mortality if not early diagnosed. Patients have recurrent or severe infections and are susceptible to granulomas in visceral organs, autoimmune diseases, and inflammatory bowel diseases. Objective and Method: To report the clinical features and treatment of 5 patients with CGD. Results: Five patients, 3 boys, with median ages at symptom onset and diagnosis of 8 months and 48 months, respectively, were followed for 10 years. Pneumonia (5/5) and mycobacterial disease (3/5) were the most common initial manifestations. Pulmonary changes were observed in all cases. Mutations in the CYBB and NCF1 genes were identified in 3 cases. All patients received antibiotic prophylaxis. Three patients underwent a hematopoietic stem cell transplant (HSCT) at 7, 18, and 19 years, with current survival of 4 to 5 years. Conclusion: Careful monitoring for severe infection with prompt treatment was crucial for survival. Even though HSCT was performed in late adolescence, it promoted the cure of CGD in 3 patients.

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Section: Discussionmentioning

confidence: 99%

“…2,3 In Brazil, data on HCT in CGD are scarce. 5,6 In this study, we describe 10-year clinical follow-up in 5 pediatric cases, highlighting successful HCT in 3 patients.…”

Section: Introductionmentioning

confidence: 97%

Chronic granulomatous disease: clinical characteristics, follow-up, and therapy of 5 pediatric patients

Melo,

Ribeiro,

Valente

et al. 2023

AAAI

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“…[ 16 ] Post‐HSCT hepatic sinusoidal obstruction syndrome is rarely described and can be fatal. [ 34,35 ] Liver cirrhosis in a patient with SCID with concomitant alpha‐1‐antitrypsin deficiency has been reported. [ 36 ] Benign liver tumors include hepatic adenomas in the absence of cirrhosis and EBV‐associated leiomyomatosis.…”

Section: Clinical Approach To Liver Disease In Ieismentioning

confidence: 99%

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

et al. 2022

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Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States.As advancements in diagnosis through genetic testing and treatment with targeted immunotherapy and bone marrow transplant emerge, increasing numbers of patients survive into adulthood posing fresh clinical challenges.A large spectrum of hepatobiliary diseases now present in those with immunodeficiency diseases, leading to morbidity and mortality in this population. Awareness of these hepatobiliary diseases has lagged the improved management of the underlying disorders, leading to missed opportunities to improve clinical outcomes. This review article provides a detailed description of specific liver diseases occurring in various inborn errors of immunity.A generalized approach to diagnosis and management of hepatic complications is provided, and collaboration with hepatologists, immunologists, and pathologists is emphasized as a requirement for optimizing management and outcomes.

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“…O objetivo do transplante é repor o número e/ou função de linfócitos ou fagócitos. A sobrevida após o TCH aumentou ao longo do tempo, devido à melhora na seleção de doadores, profilaxia e tratamento de infecções mais eficazes e controle da DECH (Fernandes et al, 2011). Contudo, DECH aguda e reativação viral pós-transplante continuam sendo desvantagens para os pacientes (Amaya-Uribe et al, 2019).…”

Section: Imunodeficiências Primáriasunclassified

Mucosite oral em pacientes pediátricos submetidos a transplante de células hematopoiéticas

Castro¹

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Castro FG. Oral mucositis in pediatric patients undergoing hematopoietic cell transplantation [thesis]. São Paulo: Universidade de São Paulo, Faculdade de Odontologia; 2019. Versão Corrigida. Oral mucositis (OM) is one of the main morbidities in immediate periods after hematopoietic cell transplantation (HCT). In pediatric patients, OM is poorly described in the literature and there are no specific protocols for prevention and treatment of these lesions. The aim of this study was to characterize OM in pediatric patients before and during the periods after HCT, and also verify which patient and transplant-related factors may be associated with the duration and severity of these lesions. It was also analyzed the impact of OM on body mass changes, opioid prescription and artificial nutrition, as well as overall survival. For this, 115 medical records were selected from patients up to 18 years old, who underwent HCT, collecting information about the patient, transplantation and toxicity in gastrointestinal tract, from the conditioning period up to 10 days after the neutrophil engraftment. Patients were divided into age groups from 0 to 2, 3 to 6, 7 to 12, and 13 to 18 years old. There was a higher frequency of patients indicated to HCT due to primary immunodeficiencies (34.78%), followed by patients with hematologic malignancies (24.34%) and anemia (18.26%). There was a high frequency of patients from 0 to 2 years old (n=35 patients) and 7 to 12 years old (n=38). These patients were mainly submitted to allogeneic transplantation (87.93%) and conditioning containing bussulfan (57.40%). A higher frequency of OM grades 3 and 4 was observed in patients from 7 to 12 years old compared to other age groups (26.32%, p = 0.019). Longer duration of swallowing pain was also observed in this age group and in 13 to 18 years old group (p = 0.024). In general, at all ages, OM was not restricted to the neutropenia period, manifesting before or extending beyond that period. The prescription of artificial nutrition (71.30%) and opioids (84.16%) was high in all the sample. Patients from 0 to 2 years old needed artificial nutrition for longer period (p = 0.002). Prophylaxis for graft versus host disease (GVHD) with methotrexate was a significant risk factor for OM. Both OM grade 2 (OR = 12.6, p = 0.017) and duration of swallowing pain ³ 3 days (OR=6.5, p<0.001) significantly impacted opioid prescription. Swallowing pain also impacted the prescription of artificial nutrition (OR = 2.7, p = 0.018), but OM did not. None factors related to mucositis in the digestive tract was significantly associated with loss or gain of body mass, nor with overall survival. It was concluded that pediatric patients who underwent HCT exhibited different OM profiles according to age group, with variations in the period of manifestation severity and duration of these lesions. Specific oral care protocols for these age groups should be instituted, focusing mainly on the control of OM regarding to analgesia.

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Allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies: Hospital Israelita Albert Einstein experience

Cited by 5 publications

References 8 publications

Chronic granulomatous disease: clinical characteristics, follow-up, and therapy of 5 pediatric patients

Chronic granulomatous disease: clinical characteristics, follow-up, and therapy of 5 pediatric patients

Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity

Mucosite oral em pacientes pediátricos submetidos a transplante de células hematopoiéticas

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