Combined immunodeficiencies

Aranda, Carolina Sánchez; Guimarães, Rafaela Rola; Pimentel, Mariana

doi:10.1016/j.jped.2020.10.014

Cited by 4 publications

(5 citation statements)

References 37 publications

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“…The deficiency of immune defense and surveillance caused by CD4-positive lymphocytopenia can provoke fatal opportunistic infections and lead to malignancy [ 35 , 36 ]. In patients with IEI, a decrease in CD4-positive lymphocytes is often closely associated with combined immunodeficiency diseases, especially SCID [ 37 - 40 ]. Even when we excluded SCID patients (N = 48) characterized by low CD4 levels from our cohort, the absolute count of CD4-positive lymphocytes in the early mortality group remained significantly lower than that in the other patients group (p = 0.03).…”

Section: Discussionmentioning

confidence: 99%

Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity

et al. 2023

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Purpose Pediatric patients with inborn errors of immunity (IEI) undergoing umbilical cord blood transplantation (UCBT) are at risk of early mortality. Our aim was to develop and validate a prediction model for early mortality after UCBT in pediatric IEI patients based on pretransplant factors. Methods Data from 230 pediatric IEI patients who received their first UCBT between 2014 and 2021 at a single center were analyzed retrospectively. Data from 2014–2019 and 2020–2021 were used as training and validation sets, respectively. The primary outcome of interest was early mortality. Machine learning algorithms were used to identify risk factors associated with early mortality and to build predictive models. The model with the best performance was visualized using a nomogram. Discriminative ability was measured using the area under the curve (AUC) and decision curve analysis. Results Fifty days was determined as the cutoff for distinguishing early mortality in pediatric IEI patients undergoing UCBT. Of the 230 patients, 43 (18.7%) suffered early mortality. Multivariate logistic regression with pretransplant albumin, CD4 (absolute count), elevated C-reactive protein, and medical history of sepsis showed good discriminant AUC values of 0.7385 (95% CI, 0.5824–0.8945) and 0.827 (95% CI, 0.7409–0.9132) in predicting early mortality in the validation and training sets, respectively. The sensitivity and specificity were 0.5385 and 0.8154 for validation and 0.7667 and 0.7705 for training, respectively. The final model yielded net benefits across a reasonable range of risk thresholds. Conclusion The developed nomogram can predict early mortality in pediatric IEI patients undergoing UCBT.

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Section: Discussionmentioning

confidence: 99%

Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity

et al. 2023

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“…Although EG has a high mortality rate, prognosis depends on the host and the degree of immunosuppression. In patients with EG and septicemia secondary to pseudomonas it ranged from 38% -77%, and in patients without sepsis is about 15% [25]. Notably, neutropenia below 500 cells can predispose a patient to severe PA infection and this seems to be associated with a higher mortality rate even in a previously healthy child [13].…”

Section: Discussionmentioning

confidence: 99%

Ecthyma Gangrenosum in Three Unrelated Patients with Combined Immunodeficiency

2023

JCPCCR

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Background: Ecthyma Gangrenosum (EG) is a necrotizing vasculitis characterized by cutaneous manifestation ranging from a nodule or papule to necrotic ulceration with surrounding erythema, especially with black eschar or central crust. The most common pathogen that causes EG is Pseudomonas aeruginosa (PA). PA is an opportunistic pathogen with predominance incidence among patients with primary immunodeficiency with hypo or agammaglobulinemic, malignancies, and acquired immune deficiency. Case Presentation: In this case study, we present three unrelated patients (three male toddlers, mean age: 0.75 years) with the primary manifestation of EG, who underwent immunological assessment and were diagnosed with combined immunodeficiency. All patients were alive although EG has a high mortality rate, the prognosis depends on the host and the degree of immunosuppression. A history of Persistent fever followed by skin lesions was common in our cases. Surprisingly, the initial immunological assessment reported different cellular and humoral immune deficiencies with the overall diagnosis of combined immunodeficiency based on the ESID criteria. For patients suspected of EG, early diagnosis and administration of appropriate systemic antibiotic therapy can considerably reduce morbidity and potential mortality. Conclusions: This case report illustrates the importance of immunodeficiency evaluation in patients with a skin lesion and considers pseudomonas aeruginosa culture for initiating appropriate antipseudomonal antibiotic therapy. Although recent studies show high EG-related mortality with predisposing factors, hopefully, due to appropriate intravenous antibiotics and immunoglobulin therapy, all patients remained alive.

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“…Основним методом лікування ТКІД є трансплантація кісткового мозку, що досягла значного прогресу за останні роки в Україні. Питання необхідності розширення трансплантаційних одиниць на даному етапі є сумнівним, оскільки поширеність ТКІД у країнах Європи становить в середньому 1 на 50 тисяч новонароджених [39,40]. З огляду на народжуваність в Україні за останні роки та демографічну ситуацію, пов'язану з війною, щороку в нас може народжуватись 5-6 дітей з ТКІД, що не буде значним навантаженням на дитячі центри трансплантації, які розвиваються і розширюються.…”

Section: рисунок 1 алгоритм проведення скринінгу використаний у пілот...unclassified

Newborn screening for severe combined immunodeficiency: lessons from a pilot study and prospects

Boyarchuk

Yarema

Makukh

2023

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The expansion of the neonatal screening program in Ukraine from October 2022 became an important achievement in the development of domestic medicine. Despite the severe challenges of the war and the burden of the COVID-19 pandemic, Ukraine was able to reach the level of the leading European countries, in which screening of newborns covers more than 20 disorders. Severe combined immunodeficiencies (SCID) are among the diseases included in the program of expanded mass screening of newborns. In this article, the authors focus on the challenges they faced during the implementation of the first pilot project in Ukraine on newborn screening for severe combined immunodeficiencies using TREC and KREC assay. The method allows to determine not only SCID, but also other conditions that occur with T- and/or B-lymphopenia, which can be considered both an advantage and a disadvantage of the method, because it requires to set the certain level of cutoff. The urgency of the investigation is critically important for SCID screening. Therefore, organizational issues and the coordinated functioning of the entire screening program are of decisive importance. The conducted analysis, considering our own experience and data of other studies, outlined the issues that need to be resolved in the further implementation of screening for SCID. Improvement of the screening algorithm (with clarifying examinations when taking the second sample, or genetic examination of the SCID panel already from the first sample); determining the path of a patient with a positive TREC result; solving the issue of measuring the lymphocyte subsets by flow cytometry at the regional centers; issues of BCG vaccination and prevention of cytomegalovirus infection; conducting trainings with doctors involved in the screening program; sharing the information among the medical community and the public will improve the newborn screening program for SCID, shorten the patient’s path to diagnosis, which in the end may have a positive impact on the quality of life and life expectancy of those with severe T- and/or B-lymphopenia.

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Combined immunodeficiencies

Cited by 4 publications

References 37 publications

Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity

Nomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity

Ecthyma Gangrenosum in Three Unrelated Patients with Combined Immunodeficiency

Newborn screening for severe combined immunodeficiency: lessons from a pilot study and prospects

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