Prevention of recurrent respiratory infections

Chiappini, Elena; Santamaria, Francesca; Marseglia, Gian Luigi; Marchisio, Paola; Galli, Luisa; Cutrera, Renato; Martino, Maurizio de; Antonini, Sara; Becherucci, Paolo; Biasci, Paolo; Bortone, Barbara; Bottero, Sergio; Caldarelli, Valeria; Cardinale, Fabio; Gattinara, Guido Castelli; Ciarcià, Martina; Ciofi, Daniele; D’Elios, Sofia; Mauro, Giuseppe Di; Doria, Mattia; Indinnimeo, Luciana; Vecchio, Andrea Lo; Macrì, Francesco; Mattina, Roberto; Miniello, Vito Leonardo; Giudice, Michele Miraglia Del; Morbin, Guido; Motisi, Marco Antonio; Novelli, Andréa; Palamara, Anna Teresa; Panatta, Maria Laura; Pasinato, Angela; Peroni, Diego; Perruccio, Katia; Piacentini, Giorgio; Pifferi, Massimo; Pignataro, Lorenzo; Sitzia, Emanuela; Tersigni, Chiara; Torretta, Sara; Trambusti, Irene; Trippella, Giulia; Valentini, Diletta; Valentini, Sandro Roberto; Varricchio, Attilio; Verga, Maria Carmen; Vicini, Claudio; Zecca, Marco; Villani, Alberto

doi:10.1186/s13052-021-01150-0

Cited by 45 publications

(54 citation statements)

References 101 publications

(129 reference statements)

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“…In particular, consistent with other studies, we confirmed that most patients suffered from recurrent respiratory infections [ 36 ]. It should be noted that in the normal population 6–7.4% of children during the first 6–10 years of life have recurrent respiratory infections, including otitis and upper and lower airway infections [ 37 , 38 ]. In our cohort of AT patients, we found a slight higher incidence of common infections of childhood, including otitis or sinusitis.…”

Section: Discussionmentioning

confidence: 99%

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Cirillo¹,

Polizzi

Soresina

et al. 2022

J Clin Immunol

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Ataxia telangiectasia (AT) is a rare neurodegenerative genetic disorder due to bi-allelic mutations in the Ataxia Telangiectasia Mutated (ATM) gene. The aim of this paper is to better define the immunological profile over time, the clinical immune-related manifestations at diagnosis and during follow-up, and to attempt a genotype–phenotype correlation of an Italian cohort of AT patients. Retrospective data of 69 AT patients diagnosed between December 1984 and November 2019 were collected from the database of the Italian Primary Immunodeficiency Network. Patients were classified at diagnosis as lymphopenic (Group A) or non-lymphopenic (Group B). Fifty eight out of 69 AT patients (84%) were genetically characterized and distinguished according to the type of mutations in truncating/truncating (TT; 27 patients), non-truncating (NT)/T (28 patients), and NT/NT (5 patients). In 3 patients, only one mutation was detected. Data on age at onset and at diagnosis, cellular and humoral compartment at diagnosis and follow-up, infectious diseases, signs of immune dysregulation, cancer, and survival were analyzed and compared to the genotype. Lymphopenia at diagnosis was related per se to earlier age at onset. Progressive reduction of cellular compartment occurred during the follow-up with a gradual reduction of T and B cell number. Most patients of Group A carried bi-allelic truncating mutations, had a more severe B cell lymphopenia, and a reduced life expectancy. A trend to higher frequency of interstitial lung disease, immune dysregulation, and malignancy was noted in Group B patients. Lymphopenia at the onset and the T/T genotype are associated with a worst clinical course. Several mechanisms may underlie the premature and progressive immune decline in AT subjects.

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Section: Discussionmentioning

confidence: 99%

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Cirillo¹,

Polizzi

Soresina

et al. 2022

J Clin Immunol

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“…Physical phenotypes, including auxologic features, behavioral or psychiatric disorders, immunological profile, and genomic analysis were evaluated. Frequent morbidity was reported using recurrent respiratory infections (RRIs), according to the previously described RRI criteria [ 12 ]. The analysis of 25-hydroxyvitamin D (25OHD) levels was limited to patients who did not initially receive vitamin D supplementation; 25OHD levels were considered deficient for values < 20 ng/mL, according to the Institute of Medicine (IOM), the American Academy of Pediatrics (AAP), and the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) recommendations [ 13 , 14 , 15 ].…”

Section: Methodsmentioning

confidence: 99%

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion

Alberio

Legitimo

Bertini

et al. 2022

JCM

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Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized by a broad and heterogeneous clinical presentation associated with various degrees of T-cell deficiency. We report the clinical, immunologic, and genetic findings of a cohort of eight patients presenting with a clinical phenotype that is highly suggestive of this syndrome but without the 22q11.2 deletion. The cardinal features of 22q11.2DS, such as congenital heart defects, hypoparathyroidism, and facial dysmorphisms, were observed in the majority of the patient cohort. The unusual features are described in detail. The immunologic assessment showed various degrees of immunodeficiency of the T-cell compartment, notably a reduction in the thymic output. Half of the patient cohort exhibited a reduction in total dendritic cells. Array comparative genomic hybridization (CGH) revealed six patients harboring copy number variations (CNVs) never reported in normal subjects. The gene content of these CNVs was carefully analyzed to understand the mechanisms leading to 22q11.2DS phenocopies. According to these results, we suggested that array-CGH should be used as a first-tier tool for patients resembling 22q11.2DS.

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“…However, future large and methodologically adequate studies in predisposed children are needed to clearly identify the lowest serum vitamin D level associated with a significant increased risk of respiratory infections, in adjunct with the most effective dosage, regimen and duration of vitamin D supplementation [ 158 ]. Similarly, an Italian inter-society consensus on the prevention of recurrent respiratory infections found that reduced vitamin D levels are associated with an increased incidence of viral respiratory infections in the first years of life [ 159 ]. Even if the evidence was too low to universally recommend vitamin D supplementation only for the prevention of respiratory infections, populations with low socioeconomic status and severe vitamin D deficiency, and children with recurrent acute otitis may benefit from vitamin D supplementation for such purpose.…”

Section: Vitamin D Supplementation In Childhoodmentioning

confidence: 99%

Exclusive Breastfeeding and Vitamin D Supplementation: A Positive Synergistic Effect on Prevention of Childhood Infections?

Domenici¹,

Vierucci²

2022

IJERPH

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Human milk is the best food for infants. Breastfeeding has been associated with a reduced risk of viral and bacterial infections. Breast milk contains the perfect amount of nutrients needed to promote infant growth, except for vitamin D. Vitamin D is crucial for calcium metabolism and bone health, and it also has extra-skeletal actions, involving innate and adaptive immunity. As exclusive breastfeeding is a risk factor for vitamin D deficiency, infants should be supplemented with vitamin D at least during the first year. The promotion of breastfeeding and vitamin D supplementation represents an important objective of public health.

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Prevention of recurrent respiratory infections

Cited by 45 publications

References 101 publications

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion

Exclusive Breastfeeding and Vitamin D Supplementation: A Positive Synergistic Effect on Prevention of Childhood Infections?

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