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The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency.

https://arctichealth.org/en/permalink/ahliterature275933
Source
J Clin Immunol. 2015 Nov;35(8):761-8
Publication Type
Article
Date
Nov-2015
Author
Virgil A S H Dalm
Gertjan J A Driessen
Barbara H Barendregt
Petrus M van Hagen
Mirjam van der Burg
Source
J Clin Immunol. 2015 Nov;35(8):761-8
Date
Nov-2015
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
B-Lymphocytes - immunology
Child
Chromosome Deletion
Chromosomes, Human, Pair 11 - genetics
Denmark
Female
Germinal Center - immunology
Humans
Immunologic Deficiency Syndromes - epidemiology - immunology
Infection - epidemiology - immunology
Jacobsen Distal 11q Deletion Syndrome - epidemiology - immunology
Male
Young Adult
Abstract
Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. Clinical features include physical and mental growth retardation, facial dysmorphism, thrombocytopenia, impaired platelet function and pancytopenia. In case reports, recurrent infections and impaired immune cell function compatible with immunodeficiency were described. However, Jacobsen syndrome has not been recognized as an established syndromic primary immunodeficiency.
To evaluate the presence of immunodeficiency in a series of 6 patients with JS.
Medical history of 6 patients with JS was evaluated for recurrent infections. IgG, IgA, IgM and specific antibodies against S. pneumoniae were measured. Response to immunization with a polysaccharide vaccine (Pneumovax) was measured and B and T lymphocyte subset analyses were performed using flowcytometry.
Five out of 6 patients suffered from recurrent infections. These patients had low IgG levels and impaired response to S. pneumoniae polysaccharide vaccination. Moreover, we also found a significant decrease in the absolute number of memory B cells, suggesting a defective germinal center function. In a number of patients, low numbers of T lymphocytes and NK cells were found.
Most patients with JS suffer from combined immunodeficiency in the presence of recurrent infections. Therefore, we consider JS a syndromic primary immunodeficiency. Early detection of immunodeficiency may reduce the frequency and severity of infections. All JS patients should therefore undergo immunological evaluation. Future studies in a larger cohort of patients will more precisely define the pathophysiology of the immunodeficiency in JS.
Notes
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PubMed ID
26566921 View in PubMed
Less detail

Acquired immunodeficiency disease syndromes in Canada.

https://arctichealth.org/en/permalink/ahliterature242649
Source
Can Med Assoc J. 1982 Dec 15;127(12):1161-3
Publication Type
Article
Date
Dec-15-1982
Author
A G Jessamine
M A Baker
J M Doherty
E H Goldberg
S. Handzel
M. Laverdiére
J. Portnoy
Source
Can Med Assoc J. 1982 Dec 15;127(12):1161-3
Date
Dec-15-1982
Language
English
Publication Type
Article
Keywords
Canada
Epidemiologic Methods
Female
Humans
Immunologic Deficiency Syndromes - epidemiology
Male
Notes
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Cites: Ann Intern Med. 1982 Jun;96(6 Pt 1):693-7006283973
PubMed ID
7139462 View in PubMed
Less detail

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

https://arctichealth.org/en/permalink/ahliterature223206
Source
J Med Genet. 1992 Sep;29(9):652-5
Publication Type
Article
Date
Sep-1992
Author
O. Mäkitie
Author Affiliation
Department of Medical Genetics, University of Helsinki, Finland.
Source
J Med Genet. 1992 Sep;29(9):652-5
Date
Sep-1992
Language
English
Publication Type
Article
Keywords
Cartilage Diseases - epidemiology - genetics
Consanguinity
Dwarfism - epidemiology - genetics
Female
Finland - epidemiology
Gene Frequency
Genes, Recessive
Hair Diseases - epidemiology - genetics
Humans
Immunity, Cellular
Immunologic Deficiency Syndromes - epidemiology - genetics
Incidence
Male
Pedigree
Syndrome
Abstract
Cartilage-hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia characterised by short limbed short stature, hypoplastic hair growth, and impaired cell mediated immunity and erythrocyte production. The syndrome is exceptionally prevalent among the Finns and among the Old Order Amish in the United States; sporadic cases have been reported from other countries. An epidemiological and genetic study of CHH in Finland showed 107 patients, 46 males and 61 females, in 85 families. Eighteen of them had died, seven before the age of 1 year. The living patients ranged in age from 1 to 51 years, median 21 years. The incidence was estimated to be 1:23,000 live births. Consanguinity was found in two families and interfamilial relationships in 20 families. Geographical distribution of the birth places of the patients and their great grandparents showed accumulation in a small area in western Finland and regional clusters were seen in other parts of the country as well. The result of the segregation analysis was in accordance with recessive inheritance with reduced penetrance.
Notes
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PubMed ID
1404295 View in PubMed
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Impact of ten-valent pneumococcal conjugate vaccination on invasive pneumococcal disease in Finnish children--a population-based study.

https://arctichealth.org/en/permalink/ahliterature268275
Source
PLoS One. 2015;10(3):e0120290
Publication Type
Article
Date
2015
Author
Jukka Jokinen
Hanna Rinta-Kokko
Lotta Siira
Arto A Palmu
Mikko J Virtanen
Hanna Nohynek
Anni Virolainen-Julkunen
Maija Toropainen
J Pekka Nuorti
Source
PLoS One. 2015;10(3):e0120290
Date
2015
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Child
Child, Preschool
Female
Finland
Humans
Immunologic Deficiency Syndromes - epidemiology - prevention & control
Infant
Male
Pneumococcal Infections - epidemiology - prevention & control
Pneumococcal Vaccines - therapeutic use
Vaccination - statistics & numerical data
Abstract
The ten-valent pneumococcal conjugate vaccine (PCV10) was introduced into the Finnish National Vaccination Program (NVP) in September 2010 with a 2+1 schedule (3, 5, 12 months) without catch-up vaccinations. We evaluated the direct and indirect effects of PCV10 on invasive pneumococcal disease (IPD) among children =5 years of age during the first three years after NVP introduction.
We conducted a population-based, observational follow-up study. The cohort of vaccine-eligible children (all children born June 1, 2010 or later) was followed from 3 months of age until the end of 2013. For the indirect effect, another cohort of older children ineligible for PCV10 vaccination was followed from 2011 through 2013. Both cohorts were compared with season- and age-matched reference cohorts before NVP introduction. National, population-based laboratory surveillance data were used to compare culture-confirmed serotype-specific IPD rates in the vaccine target and reference cohorts by using Poisson regression models.
The overall IPD rate among vaccine-eligible children was reduced by 80% (95%CI 72 to 85); the reduction in vaccine-type IPD was 92% (95%CI 86 to 95). However, a non-significant increase in non-vaccine type IPD was observed. During 2012-2013, we also observed a 48% (95%CI 18 to 69) reduction in IPD among unvaccinated children 2 to 5 years of age, which was mostly attributable to the ten vaccine serotypes.
This is the first population-based study investigating the impact of PCV10 introduction without prior PCV7 use. A substantial decrease in IPD rates among vaccine-eligible children was observed. A smaller and temporally delayed reduction among older, unvaccinated children suggests that PCV10 also provides indirect protection against vaccine-type IPD. Changes in serotype distribution warrant continuous monitoring of potential increases in non-vaccine serotypes.
Notes
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PubMed ID
25781031 View in PubMed
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Increased incidence of cancer in patients with cartilage-hair hypoplasia.

https://arctichealth.org/en/permalink/ahliterature203006
Source
J Pediatr. 1999 Mar;134(3):315-8
Publication Type
Article
Date
Mar-1999
Author
O. Mäkitie
E. Pukkala
L. Teppo
I. Kaitila
Author Affiliation
Hospital for Children and Adolescents and the Department of Clinical Genetics, Helsinki University Hospital, Finland.
Source
J Pediatr. 1999 Mar;134(3):315-8
Date
Mar-1999
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Cartilage - abnormalities
Child
Cohort Studies
Confidence Intervals
Female
Finland - epidemiology
Follow-Up Studies
Hair - abnormalities
Humans
Immunologic Deficiency Syndromes - epidemiology - genetics
Incidence
Male
Middle Aged
Neoplasms - epidemiology - genetics
Registries - statistics & numerical data
Risk factors
Abstract
Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives.
One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. Their parents and nonaffected siblings were identified through the Population Register Center. This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995.
A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7.2 to 102). The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population.
This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH.
PubMed ID
10064668 View in PubMed
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Postoperative morbidity among symptom-free alcohol misusers.

https://arctichealth.org/en/permalink/ahliterature11841
Source
Lancet. 1992 Aug 8;340(8815):334-7
Publication Type
Article
Date
Aug-8-1992
Author
H. Tønnesen
K R Petersen
L. Højgaard
K H Stokholm
H J Nielsen
U. Knigge
H. Kehlet
Author Affiliation
Department of Surgical Gastroenterology, Hvidovre Hospital, University of Copenhagen.
Source
Lancet. 1992 Aug 8;340(8815):334-7
Date
Aug-8-1992
Language
English
Publication Type
Article
Keywords
Aged
Aged, 80 and over
Alcoholism - complications
Bleeding time
Blood Coagulation Disorders - blood - epidemiology
Blood Glucose - analysis
Blood pressure
Cardiac Output, Low - epidemiology - physiopathology
Catecholamines - blood
Colonic Diseases - complications - surgery
Denmark - epidemiology
Heart rate
Hospitals, University
Humans
Hydrocortisone - blood
Immunologic Deficiency Syndromes - epidemiology
Infection - epidemiology
Length of Stay - statistics & numerical data
Male
Matched-Pair Analysis
Middle Aged
Nursing Care - statistics & numerical data
Postoperative Complications - diagnosis - epidemiology - nursing
Prospective Studies
Rectal Diseases - complications - surgery
Research Support, Non-U.S. Gov't
Risk factors
Stroke Volume
Abstract
Retrospective studies suggest that there is an increased postoperative morbidity among alcohol misusers. We have prospectively studied the risk of alcohol intake among patients undergoing surgery. We investigated 15 symptom-free subjects who required colorectal surgery and who were drinking at least 60 g of alcohol per day. These patients were matched for sex, nutrition, age, weight, cardiovascular and pulmonary disease, diagnosis, anaesthesia, and surgery to 15 control subjects who were consuming below 25 g of alcohol daily. Those drinking at least 60 g of alcohol per day developed more postoperative complications than controls (67% vs 20%, p less than 0.05) and hospital stay was prolonged (20 vs 12 days, p less than 0.05). Preoperatively, alcohol misusers had reduced left ventricular ejection fraction (median, 54% vs 68%, p less than 0.01). Delayed hypersensitivity responses were smaller in the alcohol group before (53 mm2 vs 78 mm2, p less than 0.05) and after (18 mm2 vs 55 mm2, p less than 0.01) surgery. Alcohol misusers had longer bleeding times during the first postoperative week (p less than 0.01). Surgical stress responses, as assessed by changes in plasma cortisol and catecholamines, were higher among alcoholics (p less than 0.05). Postoperative morbidity is increased in symptom-free alcohol misusers. The mechanism is probably subclinical cardiac insufficiency, immunosuppression, and decreased haemostatic function. Preoperative alcohol consumption may be a more important risk factor than previously thought.
PubMed ID
1353805 View in PubMed
Less detail

Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979.

https://arctichealth.org/en/permalink/ahliterature40474
Source
J Clin Immunol. 1982 Apr;2(2):86-92
Publication Type
Article
Date
Apr-1982
Author
A. Fasth
Source
J Clin Immunol. 1982 Apr;2(2):86-92
Date
Apr-1982
Language
English
Publication Type
Article
Keywords
Abnormalities, Multiple - epidemiology - immunology
Adolescent
Agammaglobulinemia - complications - epidemiology
Ataxia Telangiectasia - complications - epidemiology
B-Lymphocytes - immunology
Bacterial Infections - complications
Bone and Bones - abnormalities
Candidiasis, Chronic Mucocutaneous - complications - epidemiology
Child
Child, Preschool
Dysgammaglobulinemia - epidemiology
Female
Humans
IgA Deficiency
Immunologic Deficiency Syndromes - epidemiology - immunology
Infant
Infant, Newborn
Male
Neutropenia - complications - epidemiology
Research Support, Non-U.S. Gov't
Sweden
Syndrome
T-Lymphocytes - immunology
Wiskott-Aldrich Syndrome - complications - epidemiology - genetics
Abstract
A nationwide survey of symptomatic primary immunodeficiency disorders in children in Sweden during the 6-year period 1974-1979 resulted in 201 reported cases. The reported data for 174 children were analyzed. Antibody deficiencies were the most frequent (45.0%), followed by phagocytic disorders (22.0%) and combined T- and B-cell disorders (20.8%). Thirty-two children (18.4%) died, with the highest mortality for combined T- and B-cell defects. The sex ratio for all disorders was 2:1 for boys:girls. Neutropenia was significantly more common in the northern part of Sweden.
PubMed ID
6978347 View in PubMed
Less detail

[Regional features of children's biological reactions to environmental factors].

https://arctichealth.org/en/permalink/ahliterature148186
Source
Gig Sanit. 2009 Jul-Aug;(4):49-52
Publication Type
Article
Author
A Zh Iskakov
L A Perminova
B V Zasorin
L V Zelenina
Source
Gig Sanit. 2009 Jul-Aug;(4):49-52
Language
Russian
Publication Type
Article
Keywords
Child
Environmental Exposure - adverse effects
Hair - chemistry
Humans
Immunity - physiology
Immunologic Deficiency Syndromes - epidemiology - etiology - metabolism
Prevalence
Russia - epidemiology
Trace Elements - analysis
Urban Population
Abstract
The levels of trace elements in the biological substrates were comparatively analyzed in the children living in the towns of Aktobe, Orenburg, and Orsk. The values of blood metals were ascertained in the Aktobe children residing in the areas differently spaced from the town's industrial zone. Immunity was evaluated and the degree of immunodeficiency was established.
PubMed ID
19802947 View in PubMed
Less detail

[Secondary immunodeficiency of medical staff contacting with tuberculous and nonspecific infection].

https://arctichealth.org/en/permalink/ahliterature213208
Source
Probl Tuberk. 1996;(5):28-30
Publication Type
Article
Date
1996
Author
L V Sakhno
O I Leplina
E I Shevela
A A Ostanin
S D Nikonov
E R Chernykh
Author Affiliation
Institute of CLinical Immunology SO RAMN, Novosibirsk.
Source
Probl Tuberk. 1996;(5):28-30
Date
1996
Language
Russian
Publication Type
Article
Keywords
Adult
Contact Tracing
Humans
Immunity, Cellular
Immunologic Deficiency Syndromes - epidemiology - etiology - immunology
Incidence
Infectious Disease Transmission, Patient-to-Professional
Medical Staff, Hospital
Middle Aged
Russia - epidemiology
Tuberculosis, Pulmonary - complications - transmission
Abstract
The present paper analyzes immunological parameters and the incidence of secondary immunodeficiency (SID) in physicians and medium-levelled medical staff contacting with tuberculous and non-specific infection. Suppressed cell immunity was recorded in 44% of the medical staff of a pulmonary surgical tuberculosis hospital, with increased length of service there was a rise in the number of patients diagnosed as having immunodepression. The clinical manifestations of SID were recorded in 56% in this group and they were most pronounced in a group of long-working personnel. The proportion of persons with immunodepression proved to be twice higher among nurses than among physicians. Nurses are at the highest risk for immunopathological states. This common occurrence of SID among medical staff is an indicator to make an obligatory regular immunological examinations of the staff for the prevention and immunotherapy of SID.
PubMed ID
8984485 View in PubMed
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11 records – page 1 of 2.