{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:58:35Z","timestamp":1760122715441},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,11,26]],"date-time":"2017-11-26T00:00:00Z","timestamp":1511654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Foundation of Primary Immunodeficiency (FPID)"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Scand J Immunol"],"published-print":{"date-parts":[[2017,12]]},"abstract":"Abstract<\/jats:title>Chronic granulomatous disease (CGD<\/jats:styled-content>) is an inherited immunodeficiency disorder affecting the microbicidal function of the phagocytes. It is characterized by susceptibility to recurrent infections leading to significant morbidity and mortality. Antibacterial and antifungal prophylaxis, though, has significantly reduced the rate and severity of the infections; the breakthrough infections still remain a challenge. Currently, allogenic haematopoietic stem cell transplantation is the only curative option which is very expensive and unavailable for many due to lack of suitable donor. Thus, prenatal diagnosis (PND<\/jats:styled-content>) forms an important component of management in the affected families. PND<\/jats:styled-content> is challenging in families approaching late in pregnancy with an uncharacterized molecular defect. In such cases, PND<\/jats:styled-content> can be performed by analysis of NADPH<\/jats:styled-content> activity of fetal blood (FB<\/jats:styled-content>) neutrophils at 18\u201320\u00a0weeks of gestation. Cord blood samples at 18\u00a0weeks of gestation from healthy control were used to establish normal ranges for NBT<\/jats:styled-content> and DHR<\/jats:styled-content>. PND<\/jats:styled-content> was offered for six pregnancies (NBT<\/jats:styled-content>: n\u00a0<\/jats:italic>=\u00a03, DHR<\/jats:styled-content>: n\u00a0<\/jats:italic>=\u00a06) with index cases of CGD<\/jats:styled-content> confirmed by abnormal NBT<\/jats:styled-content> and DHR<\/jats:styled-content> analysis. NBT<\/jats:styled-content> and DHR<\/jats:styled-content> tests were found to be negative for all the six cases, confirming the same on samples post\u2010delivery. NBT<\/jats:styled-content> and DHR<\/jats:styled-content> tests offer a rapid and sensitive PND<\/jats:styled-content> of CGD<\/jats:styled-content> in the absence of facilities for molecular diagnosis. It was observed that addition of CD<\/jats:styled-content>15 along with CD<\/jats:styled-content>45 led to an accurate DHR<\/jats:styled-content> analysis. It is recommended to perform the diagnosis with adequate precautions only at centres with considerable experience and expertise in the diagnosis of CGD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/sji.12621","type":"journal-article","created":{"date-parts":[[2017,10,24]],"date-time":"2017-10-24T08:13:28Z","timestamp":1508832808000},"page":"486-490","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Phenotypic Prenatal Diagnosis of Chronic Granulomatous Disease: A Useful Tool in The Absence Of Molecular Diagnosis"],"prefix":"10.1111","volume":"86","author":[{"given":"M.","family":"Kulkarni","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology\u2010ICMR Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gupta","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology\u2010ICMR Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Madkaikar","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology\u2010ICMR Mumbai India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199809000-00004"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-07-231498"},{"key":"e_1_2_7_4_1","first-page":"113","article-title":"Genetic and biochemical background of chronic granulomatous disease","volume":"52","author":"Jurkowska M","year":"2004","journal-title":"Arch Immunol Ther Exp (Warsz)"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200005000-00004"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9963-5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.aller.2013.07.014"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2010.090147"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-012-0737-5"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0333-y"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2011.03.028"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-9993-7"},{"key":"e_1_2_7_13_1","first-page":"45","article-title":"Comparison of two methods for the diagnosis of chronic granulomatous disease \u2010 neutrophil oxidative burst measured by the nitroblue tetrazolium slide test versus the dihydrorhodamine 123 flow cytometric assay","volume":"67","author":"Dimitrova G","year":"2013","journal-title":"N Z J Med Lab Sci"}],"container-title":["Scandinavian Journal of Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fsji.12621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/sji.12621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T14:17:05Z","timestamp":1696688225000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/sji.12621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,26]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/sji.12621"],"URL":"https:\/\/doi.org\/10.1111\/sji.12621","archive":["Portico"],"relation":{},"ISSN":["0300-9475","1365-3083"],"issn-type":[{"value":"0300-9475","type":"print"},{"value":"1365-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,26]]},"assertion":[{"value":"2017-07-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-10-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}