PMID- 10808180 OWN - NLM STAT- MEDLINE DCOM- 20000607 LR - 20061115 IS - 0091-6749 (Print) IS - 0091-6749 (Linking) VI - 105 IP - 5 DP - 2000 May TI - DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. PG - 983-7 AB - BACKGROUND: DiGeorge anomaly (DGA) is defined as a field defect characterized by dysmorphic facies, hypoparathyroidism, congenital heart defects, and a deficiency in cell-mediated immunity, usually associated with a microdeletion in chromosome 22q11.2. Data correlating clinical and genetic information, especially in terms of the extent of the immunodeficiency and infectious complications, are scant. OBJECTIVE: The goal of this study was to define the severity of the immunodeficiency and infectious illnesses in DGA patients with characteristic clinical and genetic findings and compare them with a similar group of patients without a microdeletion in chromosome 22q11.2. METHODS: A retrospective chart review of patients referred for evaluation of DGA to our immunology service from 1989 to 1995 was conducted. Clinical and immunologic data were collected from their initial evaluation. Patients meeting at least 3 of 4 of these criteria were considered to meet strict clinical diagnostic criteria for DGA, and the results of analysis for a microdeletion in chromosome 22q11.2 for each patient was noted. RESULTS: Sixteen of the 22 patients meeting strict clinical criteria for DGA were available for analysis for the microdeletion at chromosome 22q.11.2. Of these, 13 (81%) were positive by fluorescence in situ hybridization (FISH); 9 of 13 (69%) had low CD3 numbers, 6 of 10 assayed (60%) had low thymulin levels; 10 of 13 (77%) had low CD4 numbers, and 10 of 12 (83%) had absent or small thymus glands. B cells were increased in 9 of 13 (69%) patients. Mitogen and antigen responses were normal in 6 of 7 (86%) patients tested. Eight of 13 (62%) had a history of increased frequency of infectious illnesses. All had recurrent respiratory infections, including sinusitis, otitis media, and pneumonia. Three of the 16 patients tested (19%) were FISH negative. Two of 3 (67%) had low CD3 and CD4 numbers. B cells were elevated in all patients. All had recurrent respiratory infections, low thymulin levels, and absent thymus glands. CONCLUSIONS: Contrary to traditional descriptions, this group of clinically and genetically defined patients with DGA had a predominantly mild cell-mediated immunodeficiency syndrome usually associated with infections characteristic of humoral immunodeficiencies. The patients who were FISH positive did not differ significantly from those that were FISH negative in terms of clinical and immunologic findings or infectious complications. FAU - Kornfeld, S J AU - Kornfeld SJ AD - University of South Florida/All Children's Hospital, St Petersburg, FL, USA. FAU - Zeffren, B AU - Zeffren B FAU - Christodoulou, C S AU - Christodoulou CS FAU - Day, N K AU - Day NK FAU - Cawkwell, G AU - Cawkwell G FAU - Good, R A AU - Good RA LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - J Allergy Clin Immunol JT - The Journal of allergy and clinical immunology JID - 1275002 RN - 0 (Immunoglobulin G) RN - 0 (Immunoglobulin M) RN - 37341-29-0 (Immunoglobulin E) SB - IM MH - Child MH - Child, Preschool MH - Cohort Studies MH - *DiGeorge Syndrome/genetics/immunology MH - Female MH - Humans MH - Immunoglobulin E/blood MH - Immunoglobulin G/blood MH - Immunoglobulin M/blood MH - *In Situ Hybridization, Fluorescence MH - Infant MH - Male MH - Retrospective Studies EDAT- 2000/05/16 09:00 MHDA- 2000/06/10 09:00 CRDT- 2000/05/16 09:00 PHST- 2000/05/16 09:00 [pubmed] PHST- 2000/06/10 09:00 [medline] PHST- 2000/05/16 09:00 [entrez] AID - S0091-6749(00)80022-6 [pii] AID - 10.1067/mai.2000.105527 [doi] PST - ppublish SO - J Allergy Clin Immunol. 2000 May;105(5):983-7. doi: 10.1067/mai.2000.105527.