Background： Good＇s syndrome （GS） is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4＋/CD8＋ T-cell ratio and redtlced T-cell mitogen prolif...Background： Good＇s syndrome （GS） is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4＋/CD8＋ T-cell ratio and redtlced T-cell mitogen proliferative responses. GS is difficult to diagnose preoperatively due to its rarity and lack of typical symptoms, tile characteristics of Chinese GS patients are still lacking. This study aimed to systematically review all the clinical, laboratory, and immunologic findings of reported cases of＂ Chinese patients with GS. Methods： We searched for case reports and articles up to January 2017 using PubMed, China National Knowledge Infrastructure, Wangfang database and China Science and Technology Journal Database with the following words in combinations as key words： ＂thymoma,＂ ＂hypogammaglobulinemia,＂ and ＂Good＇s syndrome.＂ The text words and MeSH terms were entered depending on the databases characteristics. The reference lists from retrieved articles were also screened for additional applicable studies. The authors were restricted to Chinese. There was no language restriction. Results： Forty-seven patients were reported in 27 studies. We found that GS has a nationwide distribution and that most cases （83%） have been described on the mainland of China. The initial clinical presentation is varied, ranging from symptoms related to the thymoma to infections resulting from immunodeficiency. Type AB （50%） is the most common histologic type ofthymomas in Chinese GS patients according to the World Health Organization classification ofthymomas. With respect to infection, sinopulmonary infection （74%） is the most common type, followed by skin infection （10%） and intestinal tract infection （10%）. Dian＇hea was presented in 36% of patients, and autoimmune manifestations were presented in 36% of patients. Conclusions： GS is a rare association of thymoma and immunodeficiency with a poor prognosis. Astute clinical acumen and increased awareness of the clinical and immun展开更多
BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles...BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles,and there is little clinical evidence.We report the case of a child with both PAP and XLA.CASE SUMMARY A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for>2 wk.He had been hospitalized multiple times due to respiratory infections and diarrhea.Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations.Genetic testing confirmed that the boy also had XLA.Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy,the boy recovered and was discharged.During the follow-up period,the number of respiratory infections was significantly reduced,and PAP did not recur.CONCLUSION XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP.展开更多
In this editorial,we discuss the clinical implications of the article by Zhang et al.Pulmonary alveolar proteinosis(PAP)is a rare lung disease characterized by excessive surfactant accumulation in the alveoli.It is cl...In this editorial,we discuss the clinical implications of the article by Zhang et al.Pulmonary alveolar proteinosis(PAP)is a rare lung disease characterized by excessive surfactant accumulation in the alveoli.It is classified into four categories:Primary,secondary,congenital,and unclassified forms.Primary PAP is caused by the disruption of granulocyte-macrophage colony-stimulating factor(GM-CSF)receptor signaling,which is necessary for the clearance of surfactant by alveolar macrophages.It is further divided into autoimmune PAP,caused by anti-GM-CSF antibodies blocking alveolar macrophage activation,and hereditary PAP,resulting from mutations in genes encoding GM-CSF receptors.Secondary PAP develops due to conditions affecting the number or function of alveolar macrophages,such as infections,immunodeficiency,hematological disorders,or exposure to inhaled toxins.Congenital PAP is linked to mutations in genes involved in surfactant protein production.Notably,the causes of PAP differ between children and adults.Diagnostic features include a characteristic"crazypaving"pattern on high-resolution computed tomography,accompanied by diffuse ground-glass opacities and interlobular septal thickening.The presence of PAP can be identified by the milky appearance of bronchoalveolar lavage fluid and histological evaluation.However,these methods cannot definitively determine the cause of PAP.Whole lung lavage remains the standard treatment,often combined with specific therapies based on the underlying cause.展开更多
Nasal cytology is a diagnostic tool currently used in rhinology to study either allergic and vasomotor rhinological disorders or infectious and inflammatory rhinitis. Over the past few years nasal cytology has been ra...Nasal cytology is a diagnostic tool currently used in rhinology to study either allergic and vasomotor rhinological disorders or infectious and inflammatory rhinitis. Over the past few years nasal cytology has been rarely used in pediatrics, nevertheless its clinical and scientific applications seem to be very promising. The advantages of this technique are different: the ease of performance, the noninvasiveness allowing repetition and the low cost. We evaluated 100 children, from 2 to 15 years old, referred to our outpatient service for allergic children for suspected allergic rhinitis (AR). After skin prick test (SPT) or Radio Allergo Sorbent Test (RAST), 59/100 subjects were classified as affected by AR, while 8 children refused to be tested. According to ARIA guidelines, the 59 children with AR (4 - 15 years old) were divided in 56 with persistent AR and 3 with an intermittent form. Nine out of 59 children with AR had a significant number of neutrophils and eosinophils at the nasal cytology, documenting the presence of “minimal persistent inflammation”. Eleven out of 59 AR patients showed a positive swab for bacteria. Children with nonallergic rhinitis (NAR) were 33/100 (2 - 15 years old). After nasal cytology, 17/33 children were classified as NARES (nonallergic rhinitis with eosinophils), including one X-linked agammaglobulinemia (XLA) child, 1/33 as NARESMA (nonallergic rhinitis with eosinophils and mast cell) and another 1/33 as NARMA (nonallergic rhinitis with mast cell). In conclusion, nasal cytology allowed us to correctly classify children with NAR and to better assess the condition of children with AR.展开更多
X-Linked Agammaglobulinemia (XLA) is the major primary immunodeficiency in which the body is unable to produce the antibodies responsible for the defense against bacteria and viruses. The patient (a 6-month-old boy) w...X-Linked Agammaglobulinemia (XLA) is the major primary immunodeficiency in which the body is unable to produce the antibodies responsible for the defense against bacteria and viruses. The patient (a 6-month-old boy) was born at term to non-consanguineous parents. Both parents and older sister are clinically healthy. At 3, 5 months of age he presented acute viral infection with glue ear. At 4 month—serous meningitis, at 5 month—laryngotracheitis and serous meningitis. The levels of immunoglobulins were decreased for Ig A and IgG isotypes. The virtual lack of CD19+ B-lymphocytes was defined. Additionally there was found a complete absence of KREC (kappa-deleting recombination excision circle) in dried blood spot. The molecular diagnostics of coding region of the BTK gene was performed. DNA sequencing analysis of patient showed a 13-bp deletion in exon 2 (c.64_76delCCTCTAAACTTCA), leading to occurrence of frameshift and premature termination codon (p.Pro22fsTer28). This mutation was not described earlier. The mother and the sister of proband showed heterozygosity at the same position. Prenatal diagnostic testing has become available to this family for next pregnancy.展开更多
文摘Background： Good＇s syndrome （GS） is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4＋/CD8＋ T-cell ratio and redtlced T-cell mitogen proliferative responses. GS is difficult to diagnose preoperatively due to its rarity and lack of typical symptoms, tile characteristics of Chinese GS patients are still lacking. This study aimed to systematically review all the clinical, laboratory, and immunologic findings of reported cases of＂ Chinese patients with GS. Methods： We searched for case reports and articles up to January 2017 using PubMed, China National Knowledge Infrastructure, Wangfang database and China Science and Technology Journal Database with the following words in combinations as key words： ＂thymoma,＂ ＂hypogammaglobulinemia,＂ and ＂Good＇s syndrome.＂ The text words and MeSH terms were entered depending on the databases characteristics. The reference lists from retrieved articles were also screened for additional applicable studies. The authors were restricted to Chinese. There was no language restriction. Results： Forty-seven patients were reported in 27 studies. We found that GS has a nationwide distribution and that most cases （83%） have been described on the mainland of China. The initial clinical presentation is varied, ranging from symptoms related to the thymoma to infections resulting from immunodeficiency. Type AB （50%） is the most common histologic type ofthymomas in Chinese GS patients according to the World Health Organization classification ofthymomas. With respect to infection, sinopulmonary infection （74%） is the most common type, followed by skin infection （10%） and intestinal tract infection （10%）. Dian＇hea was presented in 36% of patients, and autoimmune manifestations were presented in 36% of patients. Conclusions： GS is a rare association of thymoma and immunodeficiency with a poor prognosis. Astute clinical acumen and increased awareness of the clinical and immun
基金Supported by Sanitation Research Project of Kunming Municipal Health Commission,No.2020-06-01-119.
文摘BACKGROUND Pulmonary alveolar proteinosis(PAP)and X-linked agammaglobulinemia(XLA)are rare diseases in children.Many theories infer that immunodeficiency can induce PAP,but these reports are almost all review articles,and there is little clinical evidence.We report the case of a child with both PAP and XLA.CASE SUMMARY A 4-month-old boy sought medical treatment due to coughing and difficulty in breathing for>2 wk.He had been hospitalized multiple times due to respiratory infections and diarrhea.Chest computed tomography and alveolar lavage fluid showed typical PAP-related manifestations.Genetic testing confirmed that the boy also had XLA.Following total lung alveolar lavage and intravenous immunoglobulin replacement therapy,the boy recovered and was discharged.During the follow-up period,the number of respiratory infections was significantly reduced,and PAP did not recur.CONCLUSION XLA can induce PAP and improving immune function contributes to the prognosis of children with this type of PAP.
文摘In this editorial,we discuss the clinical implications of the article by Zhang et al.Pulmonary alveolar proteinosis(PAP)is a rare lung disease characterized by excessive surfactant accumulation in the alveoli.It is classified into four categories:Primary,secondary,congenital,and unclassified forms.Primary PAP is caused by the disruption of granulocyte-macrophage colony-stimulating factor(GM-CSF)receptor signaling,which is necessary for the clearance of surfactant by alveolar macrophages.It is further divided into autoimmune PAP,caused by anti-GM-CSF antibodies blocking alveolar macrophage activation,and hereditary PAP,resulting from mutations in genes encoding GM-CSF receptors.Secondary PAP develops due to conditions affecting the number or function of alveolar macrophages,such as infections,immunodeficiency,hematological disorders,or exposure to inhaled toxins.Congenital PAP is linked to mutations in genes involved in surfactant protein production.Notably,the causes of PAP differ between children and adults.Diagnostic features include a characteristic"crazypaving"pattern on high-resolution computed tomography,accompanied by diffuse ground-glass opacities and interlobular septal thickening.The presence of PAP can be identified by the milky appearance of bronchoalveolar lavage fluid and histological evaluation.However,these methods cannot definitively determine the cause of PAP.Whole lung lavage remains the standard treatment,often combined with specific therapies based on the underlying cause.
文摘Nasal cytology is a diagnostic tool currently used in rhinology to study either allergic and vasomotor rhinological disorders or infectious and inflammatory rhinitis. Over the past few years nasal cytology has been rarely used in pediatrics, nevertheless its clinical and scientific applications seem to be very promising. The advantages of this technique are different: the ease of performance, the noninvasiveness allowing repetition and the low cost. We evaluated 100 children, from 2 to 15 years old, referred to our outpatient service for allergic children for suspected allergic rhinitis (AR). After skin prick test (SPT) or Radio Allergo Sorbent Test (RAST), 59/100 subjects were classified as affected by AR, while 8 children refused to be tested. According to ARIA guidelines, the 59 children with AR (4 - 15 years old) were divided in 56 with persistent AR and 3 with an intermittent form. Nine out of 59 children with AR had a significant number of neutrophils and eosinophils at the nasal cytology, documenting the presence of “minimal persistent inflammation”. Eleven out of 59 AR patients showed a positive swab for bacteria. Children with nonallergic rhinitis (NAR) were 33/100 (2 - 15 years old). After nasal cytology, 17/33 children were classified as NARES (nonallergic rhinitis with eosinophils), including one X-linked agammaglobulinemia (XLA) child, 1/33 as NARESMA (nonallergic rhinitis with eosinophils and mast cell) and another 1/33 as NARMA (nonallergic rhinitis with mast cell). In conclusion, nasal cytology allowed us to correctly classify children with NAR and to better assess the condition of children with AR.
文摘X-Linked Agammaglobulinemia (XLA) is the major primary immunodeficiency in which the body is unable to produce the antibodies responsible for the defense against bacteria and viruses. The patient (a 6-month-old boy) was born at term to non-consanguineous parents. Both parents and older sister are clinically healthy. At 3, 5 months of age he presented acute viral infection with glue ear. At 4 month—serous meningitis, at 5 month—laryngotracheitis and serous meningitis. The levels of immunoglobulins were decreased for Ig A and IgG isotypes. The virtual lack of CD19+ B-lymphocytes was defined. Additionally there was found a complete absence of KREC (kappa-deleting recombination excision circle) in dried blood spot. The molecular diagnostics of coding region of the BTK gene was performed. DNA sequencing analysis of patient showed a 13-bp deletion in exon 2 (c.64_76delCCTCTAAACTTCA), leading to occurrence of frameshift and premature termination codon (p.Pro22fsTer28). This mutation was not described earlier. The mother and the sister of proband showed heterozygosity at the same position. Prenatal diagnostic testing has become available to this family for next pregnancy.
