{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:16:45Z","timestamp":1790525805465,"version":"4.1.0"},"reference-count":50,"publisher":"American Society for Microbiology","issue":"6","license":[{"start":{"date-parts":[[1999,11,1]],"date-time":"1999-11-01T00:00:00Z","timestamp":941414400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.asm.org\/non-commercial-tdm-license"}],"content-domain":{"domain":["journals.asm.org"],"crossmark-restriction":true},"short-container-title":["Clin Diagn Lab Immunol"],"published-print":{"date-parts":[[1999,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Chromosome 22q11.2 deletion syndrome is a common syndrome typically consisting of variable cardiac defects, hypoparathyroidism, developmental delay, and immunodeficiency. The hemizygous deletion has variable effects on the immune system even within the same kindred, and the extent of the immunodeficiency is difficult to predict. Some patients have shown improvement over time; however, this is the first prospective longitudinal study of the dynamic nature of the immunodeficiency. Nineteen patients were studied prospectively between 1994 and 1997. The results of the newborn immunologic studies in the chromosome 22q11.2 deletion group were significantly different from those of a group of newborns with cardiac disease due to other causes. Peripheral blood T-cell numbers were decreased in the chromosome 22q11.2 deletion group, although T-cell function was largely preserved. The group as a whole demonstrated few changes in the first year of life, but a subset of patients with markedly diminished T-cell numbers did demonstrate improvement. Therefore, improvement in peripheral blood T-cell counts is variable in chromosome 22q11.2 deletion syndrome. The patients with the lowest T-cell counts improved the most in the first year of life.<\/jats:p>","DOI":"10.1128\/cdli.6.6.906-911.1999","type":"journal-article","created":{"date-parts":[[2019,12,31]],"date-time":"2019-12-31T19:24:01Z","timestamp":1577820241000},"page":"906-911","update-policy":"https:\/\/doi.org\/10.1128\/asmj-crossmark-policy-page","source":"Crossref","is-referenced-by-count":69,"title":["Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome\/Velocardiofacial Syndrome)"],"prefix":"10.1128","volume":"6","author":[{"given":"Kathleen E.","family":"Sullivan","sequence":"first","affiliation":[{"name":"<!--label omitted: 1-->Department of Pediatrics1 and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"<!--label omitted: 1-->Department of Pediatrics1 and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Driscoll","sequence":"additional","affiliation":[{"name":"<!--label omitted: 1-->Department of Pediatrics1 and"},{"name":"<!--label omitted: 2-->Department of Obstetrics and Gynecology, the University of Pennsylvania School of Medicine,2 Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"<!--label omitted: 1-->Department of Pediatrics1 and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"<!--label omitted: 1-->Department of Pediatrics1 and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbas F.","family":"Jawad","sequence":"additional","affiliation":[{"name":"<!--label omitted: 3-->Division of Biostatistics and Epidemiology,3 The Children\u2019s Hospital of Philadelphia, and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"235","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm1295-1279"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.3109\/15513819309048205"},{"key":"e_1_3_2_4_2","first-page":"1","article-title":"Clinical and immunologic spectrum of the DiGeorge syndrome.","volume":"6","author":"Barrett D. J.","year":"1981","unstructured":"Barrett D. J. Ammann A. J. Wara D. W. Cowan M. J. Fisher T. J. Stiehm E. R. Clinical and immunologic spectrum of the DiGeorge syndrome. J. Clin. Lab. Immunol. 6 1981 1 6","journal-title":"J. Clin. Lab. Immunol."},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80837-6"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.822"},{"key":"e_1_3_2_7_2","first-page":"964","article-title":"Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.","volume":"51","author":"Carey A. H.","year":"1992","unstructured":"Carey A. H. Kelly D. Halford S. Wadey R. Wilson D. Goodship J. Burn J. Paul T. Sharkey A. Dumanski J. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am. J. Hum. Genet. 51 1992 964 970","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/515508"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70200-2"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80207-3"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1027382600143"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278938"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1992.03480110060034"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)80085-6"},{"key":"e_1_3_2_15_2","first-page":"924","article-title":"A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.","volume":"50","author":"Driscoll D. A.","year":"1992","unstructured":"Driscoll D. A. Budarf M. L. Emanuel B. S. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50 1992 924 933","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.813"},{"key":"e_1_3_2_17_2","first-page":"144","article-title":"Hypogammaglobulinemia in DiGeorge sequence.","volume":"150","author":"Etzioni A.","year":"1989","unstructured":"Etzioni A. Pollack S. Hypogammaglobulinemia in DiGeorge sequence. Eur. J. Pediatr. 150 1989 144 145","journal-title":"Eur. J. Pediatr."},{"key":"e_1_3_2_18_2","first-page":"A80","article-title":"DiGeorge syndrome with del(4) (q21.3q25): possibility of the fourth chromosome region responsible for DiGeorge syndrome.","volume":"51","author":"Fukushima Y.","year":"1992","unstructured":"Fukushima Y. Ohashi H. Wakui K. Nishida T. Nakamura Y. Hoshino K. Ogawa K. Ohishi T. DiGeorge syndrome with del(4) (q21.3q25): possibility of the fourth chromosome region responsible for DiGeorge syndrome. Am. J. Hum. Genet. 51 1992 A80","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.1.69"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.807"},{"key":"e_1_3_2_21_2","first-page":"605","article-title":"Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.","volume":"43","author":"Greenberg F.","year":"1988","unstructured":"Greenberg F. Elder F. F. Haffner P. Northrup H. Ledbetter D. H. Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am. J. Hum. Genet. 43 1988 605 611","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80087-1"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)92622-5"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70300-4"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80116-9"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970414)69:4<356::AID-AJMG4>3.0.CO;2-J"},{"key":"e_1_3_2_27_2","first-page":"16","article-title":"T-cell deficiency in DiGeorge syndrome. Birth Defects: Orig.","volume":"11","author":"Lischner H. W.","year":"1975","unstructured":"Lischner H. W. Huff D. S. T-cell deficiency in DiGeorge syndrome. Birth Defects: Orig. Artic. Ser. 11 1975 16 21","journal-title":"Artic. Ser."},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70478-0"},{"key":"e_1_3_2_29_2","doi-asserted-by":"crossref","first-page":"998","DOI":"10.4049\/jimmunol.158.2.998","article-title":"Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus.","volume":"158","author":"Markert M. L.","year":"1997","unstructured":"Markert M. L. Kostyu D. D. Ward F. E. McLaughlin T. M. Watson T. J. Buckley R. H. Schiff S. E. Ungerleider R. M. Gaynor J. W. Oldham K. T. Mahaffey S. M. Ballow M. Driscoll D. A. Hale L. P. Haynes B. F. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J. Immunol. 158 1997 998 1005","journal-title":"J. Immunol."},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320124"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530314"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441546"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390220"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81740-8"},{"key":"e_1_3_2_35_2","first-page":"96","article-title":"The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder.","volume":"149","author":"Muller W.","year":"1989","unstructured":"Muller W. Peter H. H. Kallfelz H. C. Franz A. Rieger C. H. The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder. Eur. J. Pediatr. 149 1989 96 103","journal-title":"Eur. J. Pediatr."},{"key":"e_1_3_2_36_2","first-page":"496","article-title":"The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome.","volume":"147","author":"Muller W.","year":"1988","unstructured":"Muller W. Peter H. H. Wilken M. Juppner H. Kallfelz H. C. Krohn H. P. Miller K. Rieger C. H. The DiGeorge syndrome. I. Clinical evaluation and course of partial and complete forms of the syndrome. Eur. J. Pediatr. 147 1988 496 502","journal-title":"Eur. J. Pediatr."},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/0008-8749(91)90183-C"},{"key":"e_1_3_2_38_2","first-page":"530","article-title":"Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome.","volume":"30","author":"Pinchas-Hamiel O.","year":"1994","unstructured":"Pinchas-Hamiel O. Engelberg S. Mandel M. Passwell J. H. Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome. Isr. J. Med. Sci. 30 1994 530 532","journal-title":"Isr. J. Med. Sci."},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<546::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.798"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90501-5"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90734-K"},{"key":"e_1_3_2_43_2","first-page":"231","article-title":"Selective polysaccharide antibody deficiency in familial DiGeorge syndrome.","volume":"69","author":"Schubert M. S.","year":"1992","unstructured":"Schubert M. S. Moss R. B. Selective polysaccharide antibody deficiency in familial DiGeorge syndrome. Ann. Allerg. 69 1992 231 238","journal-title":"Ann. Allerg."},{"key":"e_1_3_2_44_2","first-page":"107","article-title":"T-cell subsets and natural killer cells in DiGeorge and SCID patients.","volume":"19","author":"Sirianni M. C.","year":"1983","unstructured":"Sirianni M. C. Businco L. Fiore L. Seminara R. Aiuti F. T-cell subsets and natural killer cells in DiGeorge and SCID patients. Birth Defects Orig. Artic. Ser. 19 1983 107 108","journal-title":"Birth Defects Orig. Artic. Ser."},{"key":"e_1_3_2_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/0090-1229(83)90103-4"},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1128\/CDLI.5.3.415-417.1998"},{"key":"e_1_3_2_47_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780400307"},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1006\/clin.1997.4463"},{"key":"e_1_3_2_49_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.852"},{"key":"e_1_3_2_50_2","first-page":"957","article-title":"A prospective cytogenetic study of 36 cases of DiGeorge syndrome.","volume":"51","author":"Wilson D. I.","year":"1992","unstructured":"Wilson D. I. Cross I. E. Goodship J. A. Brown J. Scambler P. J. Bain H. H. Taylor J. F. Walsh K. Bankier A. Burn J. Wolstenholme J. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am. J. Hum. Genet. 51 1992 957 963","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_2_51_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<317::AID-AJMG13>3.0.CO;2-X"}],"container-title":["Clinical Diagnostic Laboratory Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.asm.org\/doi\/pdf\/10.1128\/CDLI.6.6.906-911.1999","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.asm.org\/doi\/pdf\/10.1128\/CDLI.6.6.906-911.1999","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T15:18:32Z","timestamp":1695568712000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.asm.org\/doi\/10.1128\/CDLI.6.6.906-911.1999"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,11]]},"references-count":50,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1999,11]]}},"alternative-id":["10.1128\/CDLI.6.6.906-911.1999"],"URL":"https:\/\/doi.org\/10.1128\/cdli.6.6.906-911.1999","relation":{},"ISSN":["1071-412X","1098-6588"],"issn-type":[{"value":"1071-412X","type":"print"},{"value":"1098-6588","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,11]]},"assertion":[{"value":"1999-06-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1999-08-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1999-11-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}