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• W2324012214 abstract "Allergy/Immunology| October 01 2009 Delayed Diagnosis of Common Variable Immunodeficiency AAP Grand Rounds (2009) 22 (4): 45. https://doi.org/10.1542/gr.22-4-45 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Delayed Diagnosis of Common Variable Immunodeficiency. AAP Grand Rounds October 2009; 22 (4): 45. https://doi.org/10.1542/gr.22-4-45 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search toolbar search search input Search input auto suggest filter your search All PublicationsAll JournalsAAP Grand RoundsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP NewsAll AAP Sites Search Advanced Search Topics: common variable hypogammaglobulinemia, delayed diagnosis Source: Urshel S, Kayikci L, Wintergerst U, et al. Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation. J Pediatr. 2009;154(6):888–894; doi:10.1016/j.jpeds.2008.12.020 To characterize the clinical presentation of children with early-onset common variable immunodeficiency (CVID), investigators from Munich, Germany, surveyed patients and reviewed their medical records. To identify study participants, the investigators screened data collected between 1990 and 2004 by the immunology laboratory and the immunodeficiency clinic of a tertiary care center. Study patients had IgG and IgM levels or IgA levels reduced more than two standard deviations (SD) from mean values, evidence of impaired increase of specific antibody titers after vaccination, and recurrent infections. Those with other primary immunodeficiency disorders were excluded. A total of 32 patients with early-onset CVID were analyzed. Among the 32 study patients, 17 were female. The median age at diagnosis was 10.4 years. Most patients had a history of chronic or recurrent infections including bronchitis (88%), pneumonia (78%), sinusitis (78%), otitis media (69%), fungal infections (47%), and various gastrointestinal, skin, oral, and parasitic infections (3%–10%). Eight study children had a history of meningitis and five had culture-proven sepsis. Other clinical manifestations included allergy or allergy-like symptoms (38%); autoimmune diseases were found in 31% of study patients, including hemolytic anemia, thrombocytopenia, arthritis, vasculitis, gluten-sensitive enteropathy, diabetes mellitus, vitiligo, and psoriasis. Overall, 80% of the patients underwent surgical procedures before the diagnosis of CVID was made. Nearly half of the patients had findings suggestive of immunologic disease such as diffuse lymphadenopathy or splenomegaly. Four patients (13%) subsequently developed lymphomas; all survived following chemotherapy. Nine affected children (28%) showed significant growth retardation; of these nine, all had a history of recurrent bronchitis, seven had a history of recurrent pneumonia, and five had a history of allergies and/or diarrhea. At the time of diagnosis, all subjects had serum IgG levels 2 SD or more below the mean; IgM concentrations were reduced in 30 of 32. IgA concentrations were normal in one patient and below detection in 15 of 32. Reduced serum levels of all three immunoglobulin classes were found in 29 of 32 patients. The median duration between symptoms and the definitive diagnosis was 5.8±4.2 years. The authors conclude that CVID’s effects on growth and development are unique to pediatrics but the symptoms and disorders of CVID in children are comparable to the manifestations in adults. Marked delay of diagnosis may be due to the overlap with common pediatric disorders along with lack of familiarity with CVID in children. Dr Nimmagadda has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device. CVID is second only to selective IgA deficiency among humoral immunodeficiencies and is thought to have a prevalence of 1:10,000 to 1:50,000. It affects males and females equally.1 CVID is part of a group of genetic disorders that results primarily in hypogammaglobulinemia or failure of antibody production. Patients typically present with recurrent infections, particularly... You do not currently have access to this content." @default.
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• W2324012214 date "2009-10-01" @default.
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• W2324012214 title "Delayed Diagnosis of Common Variable Immunodeficiency" @default.
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• W2324012214 doi "https://doi.org/10.1542/gr.22-4-45" @default.
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