Littérature scientifique sur le sujet « Screening immunodeficienza congenita »

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Articles de revues sur le sujet "Screening immunodeficienza congenita"

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Burnusuzov, Hasan, Ivan Yankov, Kostadin Ketev et Mariana Murdjeva. « Primary immunodeficiency screening in an infant with cytomegalovirus disease reveals HIV infection ». Folia Medica 65, no 1 (28 février 2023) : 166–70. http://dx.doi.org/10.3897/folmed.65.e72203.

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Cytomegalovirus is widely spread worldwide, and it is not uncommon for it to complicate the congenital human immunodeficiency virus (HIV) disease as an acquired or congenital coinfection. However, the association of the two infections is not common amongst infants with primary immune deficiencies. We describe a case of a 6-month-old infant with acquired cytomegalovirus and HIV infections, diagnosed in the course of the patient’s clinical and laboratory workup for a presumed primary immunodeficiency. To date, this is the first reported case of such a combination in a child from Bulgaria.
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Verbsky, James, et John Routes. « Screening for and Treatments of Congenital Immunodeficiency Diseases ». Clinics in Perinatology 41, no 4 (décembre 2014) : 1001–15. http://dx.doi.org/10.1016/j.clp.2014.08.017.

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Qiao, Luxi, Celina M. Turchi Martelli, Amber I. Raja, Nuria Sanchez Clemente, Thalia Velho Barreto de Araùjo, Ricardo Arraes de Alencar Ximenes, Demócrito de Barros Miranda-Filho, Anna Ramond et Elizabeth B. Brickley. « Epidemic preparedness : Prenatal Zika virus screening during the next epidemic ». BMJ Global Health 6, no 6 (juin 2021) : e005332. http://dx.doi.org/10.1136/bmjgh-2021-005332.

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Zika virus (ZIKV) is a vectorborne infectious agent of global public health significance due to its potential to cause severe teratogenic outcomes. The question of whether health systems should consider adopting screening programmes for ZIKV infections during pregnancy warrants consideration. In this analysis, we apply the Wilson-Jungner framework to appraise the potential utility of a prenatal ZIKV screening programme, outline potential screening strategies within the case-finding pathway, and consider other epidemiological factors that may influence the planning of such a screening programme. Our evaluation of a potential prenatal ZIKV screening programme highlights factors affirming its usefulness, including the importance of Congenital Zika Syndrome as a public health problem and the existence of analogous congenital prenatal screening programmes for STORCH agents (syphilis, toxoplasmosis, others (eg, human immunodeficiency virus, varicella-zoster virus, parvovirus B19), rubella, cytomegalovirus, and herpes simplex virus). However, our assessment also reveals key barriers to implementation, such as the need for more accurate diagnostic tests, effective antiviral treatments, increased social service capacity, and surveillance. Given that the reemergence of ZIKV is likely, we provide a guiding framework for policymakers and public health leaders that can be further elaborated and adapted to different contexts in order to reduce the burden of adverse ZIKV-related birth outcomes during future outbreaks.
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Chee, Siew-Yin, Jiun-Wen Guo, Chi-Jung Huang, Yin-Hsiu Chien, Yu-Chin Lee et Wen-Kan Feng. « Rare Concurrence of Two Congenital Disorders : Miller-Dieker Syndrome and T-Cell Lymphopenia ». Cytogenetic and Genome Research 157, no 4 (2019) : 227–30. http://dx.doi.org/10.1159/000499956.

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Miller-Dieker syndrome (MDS; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic facial dysmorphism. T-cell lymphopenia is an immunodeficiency disorder which can be early detected by newborn blood screening, and all live vaccines should be avoided. We report a 2.32-Mb microdeletion at chromosome 17p13.3p13.2 and T-cell lymphopenia in a 6-month-old male infant with MDS. This is, to our knowledge, the first description of these 2 conditions co-occurring in the same patient.
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Muramatsu, Hideki, Daiei Kojima, Yusuke Okuno, Shinsuke Kataoka, Yoko Nakajima, Tetsuya Ito, Ikuya Tsuge et al. « Combination of TREC Measurement and Next-Generation Sequencing in Newborn Screening for Severe Combined Immunodeficiency : A Pilot Program in Japan ». Blood 132, Supplement 1 (29 novembre 2018) : 3717. http://dx.doi.org/10.1182/blood-2018-99-118261.

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Abstract INTRODUCTION Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PIDs). Impaired cellular and humoral immunity renders the affected infants susceptible to various infections and results in death within the first 2 years of life. Affected infants are asymptomatic at birth, untreated disease leads to death, and prompt treatment (i.e., hematopoietic stem cell transplantation, gene therapy, or enzyme replacement therapy) is linked to significant improvement in outcome. Thus, SCID meets the disease criteria for newborn screening (NBS). The T-cell receptor excision circle (TREC) is an excellent marker of recently formed T cells, and quantitative PCR-based measurement of TREC is an excellent tool in population-based NBS for SCID. Recent progress in next-generation sequencing (NGS) has enabled the simultaneous sequencing of numerous nucleic acids, detecting single nucleotide changes as well as copy number variants. We launched a pilot newborn optional screening program for SCID, combining the measurement of TREC and NGS in Japan. PATIENTS AND METHODS We measured TREC copy number using the Enlite™ Neonatal TREC assay (Perkin Elmer, Turku, Finland), which utilizes the duplex amplification of TREC and beta-actin in the same reaction for each specimen. We used TREC negative cutoffs as follows: TREC copy number of <30 copies/μL and beta-actin copy number of ≥50 copies/μL. In patients with TREC negative results, genomic DNA was subjected to DNA capture designed using SureDesign (Agilent, Santa Clara, USA), covering a total of 349 genes associated with PIDs, inherited bone marrow failure syndromes, and the 22q11.2 region. Target capture, enrichment, and indexing were performed according to the manufacturer's instructions. Generated libraries were sequenced using a HiSeq 2500 platform (Illumina, San Diego, USA). This study was approved by the ethical committees of the Nagoya University Graduate School of Medicine and Fujita Health University. RESULTS From April 2017 to March 2018, we screened a total of 22,865 newborns, covering 57% of the total number of births in the Aichi prefecture, Japan. We identified 48 (0.21%) newborns with TREC negative results. These newborns were referred to the Nagoya University Hospital or Fujita Health University Hospital and received thorough immunological examination, including target capture sequencing. Among them, 12 (25%) newborns had background diseases, including Down syndrome (n = 4), gastrointestinal defects (n = 3), congenital diaphragmatic hernia (n = 2), congenital chylothorax (n = 2), and severe congenital heart anomaly (n = 1). Immunological assessment identified 11 (23%) infants with lymphocytopenia (<1500 /μL). These infants avoided live vaccines and received appropriate interventions to prevent infection. Using target sequencing analyses, we identified four patients with PIDs, including 22q11.2 deletion syndrome (n = 2), Wiskott‒Aldrich syndrome (n = 1), and combined immunodeficiency with an unknown causative gene (n = 1). CONCLUSION We successfully launched a pilot newborn optional screening program for SCID, combining the measurement of TREC and NGS in Japan. We did not identify typical SCID patients probably because of the relatively small sample size. However, this newborn screening program, incorporating an NGS assay as a second test, achieved early accurate diagnoses of patients with other PIDs with TREC negative results. Consequently, this program may facilitate patient management and optimize treatment outcomes. Disclosures No relevant conflicts of interest to declare.
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Gjerset, GF, MJ Clements, RB Counts, AS Halvorsen et AR Thompson. « Treatment type and amount influenced human immunodeficiency virus seroprevalence of patients with congenital bleeding disorders ». Blood 78, no 6 (15 septembre 1991) : 1623–27. http://dx.doi.org/10.1182/blood.v78.6.1623.bloodjournal7861623.

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Two hundred and eighty-two patients with congenital bleeding disorders received blood component replacement therapy between January 1979 and April 1985, were followed-up by the Puget Sound Blood Center's Hemophilia Care Program, and were tested for antibody to human immunodeficiency virus (HIV). Serologic results were obtained at least 1 year after the last exposure to volunteer donor products that were prepared before donor HIV screening or after the last exposure to concentrates produced before the manufacturer's use of treatment methods for inactivation of HIV. In all, 106 patients were anti-HIV positive. The risk of HIV infection was greater in patients with more severe bleeding tendencies, greater exposure to components, and exposure to lyophilized concentrates from large pools of donors. Of 100 patients with hemophilia A who only received cryoprecipitate from volunteer donors from Washington State (during the 6.3-year period), 14% had become anti-HIV positive. Of 27 patients receiving mostly cryoprecipitate but also being exposed to a single lot of concentrate during the same period, 13 (48%) were positive. Of 49 patients treated predominantly or solely with factor VIII concentrates during this period, 43 (88%) were anti-HIV positive. Of 29 patients with von Willebrand disease, four were anti-HIV positive, including 2 of 26 receiving only cryoprecipitate and two of three who had received a single dose of factor VIII concentrate. Of 19 patients who were treated solely with volunteer donor plasma, all remained anti-HIV negative. Of 47 patients exposed to factor IX concentrate, 28 (60%) were positive. Data relevant to the risk of HIV transmission subsequent to screening of the volunteer donor population were also obtained. Treatment records of 55 hemophilia A patients who have remained anti-HIV negative through at least June 1990 showed exposure to 71,173 screened donors from May 1985 through December 1989, and all 55 patients have remained anti-HIV negative.
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Scott, Ori, Jenny Garkaby, Jessica Willett-Pachul, Amarilla B. Mandola et Yehonatan Pasternak. « A novel splice site variant in FOXN1 in a patient with abnormal newborn screening for severe combined immunodeficiency and congenital lymphopenia ». LymphoSign Journal 8, no 1 (1 mars 2021) : 1–4. http://dx.doi.org/10.14785/lymphosign-2021-0013.

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Background: The Forkhead box protein N1 (FOXN1) is a key regulator of thymic epithelial development, and its complete deficiency leads to a nude-severe combined immunodeficiency (SCID) phenotype. More recently, heterozygous mutations in FOXN1 have been linked with a syndrome of congenital lymphopenia and a wide clinical spectrum, with most cases being caused by missense mutations. Aim: To broaden the genotypic and phenotypic spectrum of heterozygous FOXN1 deficiency. Methods: Case report of a patient with FOXN1 haploinsufficiency due to a novel splice-site mutation. Results: Our patient was identified at 3 weeks of life given an abnormal newborn screen (NBS) for SCID, and was found to have congenital lymphopenia preferentially affecting CD8+ T-cells. Her cellular and humoral function were both excellent, and she has remained entirely asymptomatic and thriving for the first 3 years of her life. The patient was found on whole exome sequencing to carry a heterozygous splice-site mutation in the FOXN1 gene, affecting the Forkhead domain. The mutation was also identified in her asymptomatic mother. Conclusion: Heterozygous FOXN1 mutations are an increasingly-recognized cause of congenital lymphopenia. Our experience suggests most patients remain clinically well, with main manifestation including T-lymphopenia, mostly affecting CD8+ cells. Identification of the same variant in an asymptomatic parent suggests age-dependent improvement in T-cell counts and an overall benign course, while provides impetus for diligent conservative management with regular follow-up. Statement of novelty: Heterozygous FOXN1 deficiency is a relatively new entity, attributed in most cases to missense mutations in FOXN1. To further expand the knowledge basis regarding this emerging disorder, as well as its genotypic repertoire, we herein report a case of heterozygous FOXN1 deficiency caused by a splice site mutation.
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Titman, Penny, Elizabeth Pink, Emily Skucek, Katherine O'Hanlon, Tim J. Cole, Jane Gaspar, JinHua Xu-Bayford et al. « Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies ». Blood 112, no 9 (1 novembre 2008) : 3907–13. http://dx.doi.org/10.1182/blood-2008-04-151332.

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Hematopoietic stem cell transplantation (HSCT) is a highly successful treatment for severe congenital immunodeficiencies. However, some studies have suggested that children may experience cognitive difficulties after HSCT. This large-scale study assessed cognitive and behavioral function for the cohort of children treated by HSCT at one center between 1979 and 2003 to determine the frequency and severity of problems and to identify risk factors. A total of 105 patients were assessed on standardized measures of cognitive and emotional and behavioral function together with a control group of unaffected siblings. The average IQ for the cohort was 85 (95% confidence interval, 81-90), significantly lower than both the population average of 100 (P < .001) and unaffected siblings. Multivariate analysis indicated that the underlying genetic defect, diagnosis of adenosine deaminase-deficient severe combined immunodeficiency, and consanguinity were associated with worse outcome but that age at transplantation and chemotherapy conditioning were not. Children treated by HSCT for severe immunodeficiency have an increased risk of long-term cognitive difficulties and associated emotional and behavioral difficulties. The specific genetic diagnosis, consanguinity, and severe clinical course are associated with poor outcome. Long-term follow-up of these patients should include screening to identify and manage these problems more effectively.
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Gjerset, GF, MJ Clements, RB Counts, AS Halvorsen et AR Thompson. « Treatment type and amount influenced human immunodeficiency virus seroprevalence of patients with congenital bleeding disorders ». Blood 78, no 6 (15 septembre 1991) : 1623–27. http://dx.doi.org/10.1182/blood.v78.6.1623.1623.

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Abstract Two hundred and eighty-two patients with congenital bleeding disorders received blood component replacement therapy between January 1979 and April 1985, were followed-up by the Puget Sound Blood Center's Hemophilia Care Program, and were tested for antibody to human immunodeficiency virus (HIV). Serologic results were obtained at least 1 year after the last exposure to volunteer donor products that were prepared before donor HIV screening or after the last exposure to concentrates produced before the manufacturer's use of treatment methods for inactivation of HIV. In all, 106 patients were anti-HIV positive. The risk of HIV infection was greater in patients with more severe bleeding tendencies, greater exposure to components, and exposure to lyophilized concentrates from large pools of donors. Of 100 patients with hemophilia A who only received cryoprecipitate from volunteer donors from Washington State (during the 6.3-year period), 14% had become anti-HIV positive. Of 27 patients receiving mostly cryoprecipitate but also being exposed to a single lot of concentrate during the same period, 13 (48%) were positive. Of 49 patients treated predominantly or solely with factor VIII concentrates during this period, 43 (88%) were anti-HIV positive. Of 29 patients with von Willebrand disease, four were anti-HIV positive, including 2 of 26 receiving only cryoprecipitate and two of three who had received a single dose of factor VIII concentrate. Of 19 patients who were treated solely with volunteer donor plasma, all remained anti-HIV negative. Of 47 patients exposed to factor IX concentrate, 28 (60%) were positive. Data relevant to the risk of HIV transmission subsequent to screening of the volunteer donor population were also obtained. Treatment records of 55 hemophilia A patients who have remained anti-HIV negative through at least June 1990 showed exposure to 71,173 screened donors from May 1985 through December 1989, and all 55 patients have remained anti-HIV negative.
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Klass, Perri E., Elizabeth R. Brown et Stephen I. Pelton. « The Incidence of Prenatal Syphilis at The Boston City Hospital : A Comparison Across Four Decades ». Pediatrics 94, no 1 (1 juillet 1994) : 24–28. http://dx.doi.org/10.1542/peds.94.1.24.

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Objective. To examine the incidence and epidemiologic correlates of congenital syphilis at an inner-city Boston hospital, and draw comparisons with the situation at the same hospital 40 years ago. Design. Chart review and comparison with data collected in 1951. Setting. Maternity and pediatric services at Boston City Hospital. Methods. A study conducted in 1951 on the maternity service of Boston City Hospital in which demographic data were collected on all women admitted in labor over a 5-month period was replicated. Serologic testing for syphilis was carried out on these women, and the demographic and medical correlates of positive maternal syphilis serology were examined. This study was repeated exactly 40 years later, using the cord blood screening for syphilis done routinely at delivery and a review of prenatal records. Results. From a group made up largely of married white women in 1951, the study population shifted in 1991 to a group made up mostly of minority women, with 75% unmarried. In 1951, 24 patients were diagnosed with syphilis either before or during the pregnancy, giving a prevalence rate of 2.4%. In 1991, 25 of 647 women were diagnosed with syphilis, for a prevalence rate of 3.9%. The women with positive cord blood serologies had a higher rate of other sexually transmitted diseases and substance abuse. No symptomatic cases of congenital syphilis were seen in 1951 or in 1991, although at least 11 of the 26 infants born to mothers with positive serologies in 1991 received intravenous penicillin therapy. Conclusions. The continued prevalence of diagnosed syphilis in women at delivery reflects an inner-city epidemic of congenital syphilis that is tied to substance abuse, human immunodeficiency virus, and changing social patterns, as well to older problems of serologic screening, prenatal care, treatment failures, and maternal reinfection. It is essential that screening programs be maintained and improved in this high-risk population, and that infants born to mothers with positive serologies receive full and adequate treatment if there is any doubt at all about their infection status.
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Thèses sur le sujet "Screening immunodeficienza congenita"

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Theriault, Mylene A. « Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection ». Thesis, Université d'Ottawa / University of Ottawa, 2013. http://hdl.handle.net/10393/30318.

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The development of new high throughput technologies able to multiplex disease biomarkers as well as advances in medical treatments has lead to the recent expansion of the newborn screening panel to include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major focus of this study was to determine whether 5’-hydrolysis assays developed for the four distinct disorders with specific detection needs and analytical ranges could be combined on the OpenArray system and in multiplexed qPCR reactions. SNP detection of homozygous SMN1 deletions in SMA, CNV detection in the 22q11.2 critical region, and quantification of the SCID biomarker, T-cell receptor excision circles (TRECs) and CMV were all required for disease confirmation. SMA and 22q11.2 gene deletions were accurately detected using the OpenArray system, a first for the technology. The medium density deletion 22q11.2 multiplex successfully identified deletion carriers having either the larger 3 Mb deletion or the smaller 1.5 Mb deletions. Both TREC and CMV targets were detected but with a decrease in sensitivity when compared to their singleplex counterparts. Lastly, copy number detection of the TBX1 was performed when multiplexed with the TREC assay, without a decrease in detection limit of either assay. Here, we provide proof of principal that qPCR multiplexing technologies are amenable to implementation with a newborn screening laboratory.
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CANESSA, CLEMENTINA. « Predizione del fenotipo clinico di immunodeficienza congenita da deficit di ADA su spot neonatale mediante spettrometria di massa ». Doctoral thesis, 2016. http://hdl.handle.net/2158/1045313.

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L’immunodeficienza da deficit di ADA è una delle principali forme di immunodeficienza severa combinata (SCID). La mancanza dell’enzima, comporta un grave disordine metabolico ereditario. Nella forma comune, la totale assenza dell’enzima determina l’accumulo di metabolici tossici che da una parte causano difetti del sistema immunitario e dall’altra danni permanenti ad organi e tessuti, come cervello e fegato. In questi casi l’ADA-SCID è fatale nel primo mese di vita se non trattata, e con gravi conseguenze se trattata troppo tardi. Inoltre sono stati descritti casi di insorgenza tardiva ADA-SCID, nei quali i pazienti presentano ricorrenti infezioni croniche e patologie polmonari non fin dai primi mesi di vita ma successivamente, durante l’infanzia. Se questa immunodeficienza è individuata in fase precoce, il trapianto di cellule staminali ematopoietiche può essere curativo. Per tale ragione nel 2010 le SCID sono state dichiarate eleggibili di screening neonatale. Uno dei mezzi di screening di ADA-SCID più promettenti sembra essere la spettrometria di massa tandem, che permette di individuare e quantificare i metaboliti tossici accumulati già alla nascita sullo stesso DBS che si utilizza per lo screening delle malattie metaboliche. La spettrometria di massa, rispetto all’altro metodo di screening rappresentato dal dosaggio dei TRECs, ha il vantaggio di essere in grado di individuare anche le forme di malattia ad esordio tardivo. Infatti in tali forme i TRECs sono ancora presenti, perché la disfunzione immunologica ancora non si è verificata, mentre i metaboliti sono già presenti alla nascita, in quanto si sono accumulati fin dalla vita intra-uterina. E’ ipotizzabile quindi prevedere il fenotipo clinico di malattia sulla base dei livelli dei metaboliti dosati alla nascita su spot. Lo scopo di questa tesi pertanto è stato quello di valutare la capacità di tale metodo di identificare già alla nascita il fenotipo clinico di ADA-SCID. In particolare, il primo obiettivo è stata l’individuazione di un marker specifico i cui valori alla nascita correlano con la gravità del fenotipo futuro di malattia. Il secondo obiettivo è stato quello di verificare se esiste una correlazione tra i valori dei metaboliti alla nascita e il genotipo e di confrontare questa correlazione con quella tra metaboliti e fenotipo e con quella tra genotipo e fenotipo. The aim of the research is to find a marker of ADA-SCID at birth, that can be measured on dried blood spot in neonatal screening program; the other aim is to define a correlation with phenotype of the disease.
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Chapitres de livres sur le sujet "Screening immunodeficienza congenita"

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Riddell, Anna, et Marta Gonzalez Sanz. « Infections in the Immunocompromised Host ». Dans Tutorial Topics in Infection for the Combined Infection Training Programme. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780198801740.003.0050.

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An understanding of the main aspects and functions of the immune system is important, i.e. physical barriers, innate, humoral, and cell-mediated immunity (see Chapter 6, Basic Immunology), when caring for the immunocompromised patient. In adults, secondary immunodeficiency is much more common than primary, and is most often due to iatrogenic immunosuppression with drugs, e.g. corticosteroids, chemotherapy agents, immunosuppressive agents, ‘biological’ therapies. For example, treatment with corticosteroids for more than one month is enough to increase the risk of some fungal infections such as Candida and Pneumocystis jirovecii, such that PCP prophylaxis should be considered in patients receiving ≤ 20mg/day prednisolone for four or more weeks. Chemotherapy and immunosuppressive agents may cause profound immunosuppression. The degree and duration of immunosuppression following a transplant, and the conditioning regimen used before the transplant varies with respect to the type of transplant: heart and lung transplant recipients typically receive more significant immunosuppression, and so are at increased risk of opportunistic infection compared to other solid-organ transplant recipients. Infections (e.g. HIV), cancer, and autoimmune disorders and the treatment of these conditions can also affect the immune system. Other diseases are also considered immunosuppressive although the exact nature of this is less well defined, for example, poorly controlled diabetes mellitus increases the risk of candidal infections and common bacterial infections. Cirrhosis is also considered to be a relatively immunosuppressed state. Understanding the nature of immune defects in both primary and secondary immunodeficiency allows more accurate prediction of overall infection risk and risk of specific pathogens, allowing a rational approach to infection prevention and investigation when patients become unwell. The initial assessment of the immunocompromised host should be to identify why the patient is immunocompromised, how long they have been immunocompromised (is it a congenital or acquired immunodeficiency?), and whether there is potential for immune recovery. Clearly, a person with a congenital immunodeficiency will have lifelong susceptibility to specific infections, unlike an acquired deficiency due to chemotherapy or transplantation which may be transient. If the immunosuppression is due to a drug, is it possible to reduce or change the immunosuppression? If an infection is suspected, pre-immunosuppression infection screening results can help identify whether the current presentation represents reactivation of a latent infection or primary infection.
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