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Isolated Agammaglobulinemia

X-linked Agammaglobulinemia


Presentation

  • Lymphocyte phenotype analysis at the time of presentation with echovirus infection revealed an increase in CD2 , CD16 , HNK-1 lymphocytes, a decrease in CD4 T cells as well as absence of B cells.[ncbi.nlm.nih.gov]
  • We report a case of recurrent pneumococcal arthritis as the presenting manifestation of X-linked agammaglobulinemia.[academic.oup.com]
  • The pathogenesis and clinical presentation of X-linked agammaglobulinemia, caused by mutations in the BTK (Bruton’s tyrosine kinase) gene, are then presented in detail, followed by descriptions of the clinical manifestations and molecular basis of the[books.google.com]
  • Definitive identification of the organism by conventional gene sequencing could not be made because multiple organisms were present in the culture.[jamanetwork.com]
  • According to the BTK database ( ), at present 592 unique BTK mutations have been found in XLA patients.[bmcpediatr.biomedcentral.com]
Multiple Organ Dysfunction Syndrome
Vietnamese
Hyperpigmentation
  • A, Leg ulcer with surrounding hyperpigmentation and induration at presentation. B, Same leg ulcer (close-up). C, Nearly healed leg ulcer 2½ months after treatment with systemic antibiotics.[jamanetwork.com]
Ecthyma
  • Brunsting LAGoeckerman WHO’Leary PA Pyoderma (ecthyma) gangrenosum: clinical and experimental observations in 5 cases occurring in adults. Arch Derm Syphilol 1930;22655- 680 Google Scholar Crossref 11. Wolff KStingl G Pyoderma gangrenosum.[jamanetwork.com]
Agalactia
  • After 24 hours of incubation, a few colonies of group B Streptococcus ( S agalactiae ) were observed on the media.[jamanetwork.com]
Excitement
  • The number of migrated PMN was analyzed by flow cytometry by using the blue-green excitation light (488 nm argon-ion laser).[journals.plos.org]

Workup

  • During the workup flow cytometry demonstrates a decrease in normal CD40L cells. Based on these findings, the immunologist decides to pursue a further workup and obtains immunoglobulin levels.[medbullets.com]
  • The patient underwent an extensive diagnostic workup, and the results of microbiology tests are summarized in Table 1, and those of cellular and humoral immunity in Table 2. There was no evidence of autoimmune disease.[jtd.amegroups.com]
  • Diagnostic workup and treatment were performed in Italy. Poliovirus replicated in the gut for 7 months. The 5’ non coding region (NCR), VP1, VP3 capsid proteins and the 3D polymerase genomic regions of sequential isolates were sequenced.[bmcinfectdis.biomedcentral.com]

Treatment

  • Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here.[pediascape.org]
  • Prompt treatment of infections (or giving antibiotics prophylactically before an infection has occurred).[stanfordchildrens.org]
  • Treatment Treatment of XLA consists of regular intravenous doses of commercially prepared gamma globulin (sold under the trade names Gamimune or Gammagard) to ward off infections. Antibiotics are used to treat infections as they occur.[medical-dictionary.thefreedictionary.com]
  • The mean duration of treatment of bacteremia is 10 to 14 days in immunocompetent individuals. In immunocompromised patients longer treatment may be necessary. Also, in our patient the Campylobacter was hard to eradicate.[link.springer.com]
  • This book is a comprehensive yet manageable resource for physicians and nurses wishing to learn more about PID, as well as a useful tool for both doctors-in-training and specialists in clinical decision-making and treatment planning.[books.google.de]

Prognosis

  • Infants who develop polio or persistent viral infections, however, have a poorer prognosis. Prevention Parents of a child with XLA should consider genetic counseling if they are planning to have more children.[medical-dictionary.thefreedictionary.com]
  • , Prevention, and Complications Prognosis 20% survival rate past young adulthood leading cause of death pneumonia encephalitis malignancy Complications increased risk of autoimmunity increased risk of malignancies HCC carcinoid tumor infection bronchiectasis[medbullets.com]
  • Our results suggest that IVIG replacement represents an important role to improve the prognosis of XLA [ 10 , 11 , 17 ]. Our patients were examined for the presence of BTK gene mutations.[bmcpediatr.biomedcentral.com]
  • Prognosis In the case of the early diagnosis of XLA and an appropriate therapy before the appearance of sequel, prognosis is well. They are encouraged a full active lifestyle and children can attend to all regular school.[intechopen.com]
  • 参考文献 Kyle RA, Therneau TM, Rajkumar SV, et al.: A long-term study of prognosis in monoclonal gammopathy of undetermined significance. N Engl J Med 346 (8): 564-9, 2002.[cancerinfo.tri-kobe.org]

Etiology

  • Synonyms isolated hypogammaglobulinemia Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. Treatment Please input treatment information here.[pediascape.org]
  • Etiology Defects in B lymphocyte development and maturation appear to underlie agammaglobulinemia.[orpha.net]
  • Definition Hypogammaglobulinemia : congenital or acquired decrease or absence in IgG classes Etiology Ataxia-Telangiectasia Autosomal Recessive Agammaglobulinemia (ARA) B-Cell Lineage Malignancies : increased catabolism of immunoglobulins Biallelic Deficiency[mdnxs.com]
  • To quote directly from a major textbook in dermatology, “Seventy years later, the etiology of pyoderma gangrenosum is still unknown, but in all likelihood bacteria do not directly cause the disease, nor is it infectious in nature.” 11 Gene sequencing[jamanetwork.com]

Epidemiology

  • Summary Epidemiology Prevalence is estimated to be about 1/250,000 to 1/500/000. Isolated agammaglobulinemia has been reported worldwide in all ethnic groups.[orpha.net]
  • Molecular epidemiology of polioviruses. Semin Virol 1995;6:401-14. Cochi SL, Sutter RW, Kew OM, Pallansch MA, Dowdle WR.[cdc.gov]
  • […] following applies: [4] Treatment of infection (antibiotics) Surveillance for malignancies Immunoglobulin replacement therapy See also [ edit ] Immunodeficiency T cell deficiency References [ edit ] a b "Pure B-Cell Disorders: Background, Pathophysiology, Epidemiology[en.wikipedia.org]
  • Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. J Allergy Clin Immunol Pract. 2016; 4(6):1059-1065. PMID: 26883540 Berglöf, A, et al.[invitae.com]
  • This remains crucial for epidemiological interpretation because it may alert for the presence of a chronic iVDPV excretor in the community [ 3 ].[bmcinfectdis.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed.[books.google.de]
  • […] generally the following applies: [4] Treatment of infection (antibiotics) Surveillance for malignancies Immunoglobulin replacement therapy See also [ edit ] Immunodeficiency T cell deficiency References [ edit ] a b "Pure B-Cell Disorders: Background, Pathophysiology[en.wikipedia.org]

Prevention

  • Although persons with XLA carry the genes to produce immunoglobulins, a genetic defect on the X chromosome prevents their formation.[medical-dictionary.thefreedictionary.com]
  • Immunoglobulin is particularly effective in preventing the spread of infections into the bloodstream and to deep body tissues or organs.[primaryimmune.org]
  • Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse[books.google.com]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.com]
  • Vetter, a patient with SCID who lived in a protective plastic bubble to prevent exposure to opportunistic microbes, received a bone marrow transplant from his sister.[courses.lumenlearning.com]

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