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Florí, Núria Matamoros; Llambí, Joan Milá; Borén, Tora; Borja, S. Raga; Casariego, Gumersindo Fontán

doi:10.1023/a:1027382916924

Cited by 106 publications

(17 citation statements)

References 4 publications

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“…It is 1/200,000 live births in Switzerland, 1/10,000,000 to 1/20,000,000 live births in Spain, 1/100,000 to 1/285,000 live births in Norway and 1/379,000 live births in the United States. [ 11 26 27 28 ] It is difficult to accurately access the incidence of XLA in mainland of China due to the lack of national or local PID registration. Based on the population census of 16.87 million new birth populations in 2014, using the incidence of Norway, the new cases of XLA would be above 80 annually, and the cumulative cases below 14 years of age should be above 1000.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia

et al. 2016

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X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency. XLA patients typically present with very low numbers of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Most XLA patients carry mutations in Bruton tyrosine kinase (BTK) gene.The genetic background and clinical features of 174 Chinese patients with XLA were investigated. The relationship between specific BTK gene mutations and severity of clinical manifestations was also examined. Mutations were graded from mild to severe based on structural and functional prediction through bioinformatics analysis.One hundred twenty-seven mutations were identified in 142 patients from 124 families, including 45 novel mutations and 82 recurrent mutations that were distributed over the entire BTK gene sequence. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset.This report constitutes the largest group of patients with BTK mutations in China. A genotype–phenotype correlation was observed in this study. Early diagnosis of congenital agammaglobulinemia should be based on clinical symptoms, family history, and molecular analysis of the BTK gene.

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Section: Discussionmentioning

confidence: 99%

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia

et al. 2016

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“…Exhaustive studies are rare, and few patient registries are available[24]. General epidemiological surveys of primary immune deficiencies do not take congenital neutropenia into account [25-27], with the exception of the Iranian study [28] and a recent French study [29]. In the Iranian study, 53 cases were recorded, for a prevalence of 0.77/10 6 .…”

Section: Epidemiologymentioning

confidence: 99%

Congenital neutropenia: diagnosis, molecular bases and patient management

Donadieu

Fenneteau

Beaupain

et al. 2011

Orphanet J Rare Dis

184

191

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The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l) or mild (between 0.5-1.5 G/l), which may also affect other organ systems such as the pancreas, central nervous system, heart, muscle and skin. Neutropenia can lead to life-threatening pyogenic infections, acute gingivostomatitis and chronic parodontal disease, and each successive infection may leave permanent sequelae. The risk of infection is roughly inversely proportional to the circulating polymorphonuclear neutrophil count and is particularly high at counts below 0.2 G/l.When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia) and congenital forms that may either be isolated or part of a complex genetic disease.Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant.About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE) mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia.Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency) and glycogen storage disease type Ib (associated with a glycogen storage syndrome). So far, the molecular bases of 12 neutropenic disorders have been identified.Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF). G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

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“…Selective IgA deficiency (IgAD) is the most common primary immunodeficiency disease in Caucasians [1, 2, 3]; its frequency in healthy populations varies between different ethnic groups. The highest frequency (1:163) was observed in Spanish children and blood donors [4], whereas in Japan, the frequency was found to be 1:18,500 [5].…”

Section: Introductionmentioning

confidence: 99%

IgA Deficiency in Czech Healthy Individuals and Selected Patient Groups

Litzman¹,

Ševčíková²,

Štikarovská³

et al. 2000

Int Arch Allergy Immunol

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Background: Selective IgA deficiency (IgAD) is the most common immunoglobulin deficiency with a variety of clinical manifestations. The frequency of IgAD differs depending on the ethnic origin and clinical symptoms of investigated persons. Methods: The prevalence of IgAD (serum IgA level <0.05 g/l) was determined in 5,310 Czech blood donors, 10,326 patients who had undergone immunological investigation, and 246 first-degree relatives of IgAD and common variable immunodeficiency (CVID) patients. Results: IgAD was detected in 13 (1/408; 0.24%) of the blood donors. The prevalence of IgAD was increased both in children (48/3,113; 1.5%) and adults (33/3,824; 0.9%) referred for frequent respiratory tract infections (in both cases p < 0.001) compared to the healthy population. The frequency of IgAD was 12/189 (6%) in first-degree relatives of IgAD patients and 9/57 (16%) in relatives of CVID patients, with the highest frequency observed in children of CVID patients. Conclusions: The prevalence of IgAD in the Czech healthy population is comparable to that in other Caucasians. The frequency is increased in children with recurrent respiratory tract infections and especially in relatives of patients with immunoglobulin deficiencies.

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Cited by 106 publications

References 4 publications

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia

Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia

Congenital neutropenia: diagnosis, molecular bases and patient management

IgA Deficiency in Czech Healthy Individuals and Selected Patient Groups

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