Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome

Overview

Journal J Clin Immunol

Publisher Springer

Specialty Allergy & Immunology

Date 2017 Apr 22

PMID 28429103

Citations 5

Authors

Yiwa Suksawat

Achara Sathienkijkanchai

Jittima Veskitkul

Orathai Jirapongsananuruk

Nualanong Visitsunthorn

Pakit Vichyanond

Punchama Pacharn

Affiliations

Soon will be listed here.

Abstract

Purpose: Patients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery among patients with 22q11.2 deletion syndrome.

Methods: Patients with 22q11.2 deletion syndrome diagnosed by fluorescence in situ hybridization (FISH) were studied. Immunological parameters were evaluated every 6 months until patients returned to normal. Infection and vaccination histories were recorded and analyzed, and Kaplan-Meier survival curves were plotted to describe resolution of immunodeficiency.

Results: Forty-nine patients with an age range of 4 to 222 months were included. Twenty-five (51%) patients were female. In hypocalcemia, the odds ratio for CD4 lymphopenia was 17.03 (95%CI 1.82-159.23; p value = 0.01). Thirty patients (61.2%) exhibited decreased CD4+ T cell numbers, which returned to normal level in 18 (60%) patients. Median age of CD4+ T cell resolution was 2.5 years. T cell functions were abnormal in three patients. T cell functions returned to normal in all patients at a median age of 1.1 years. Six patients (13.5%) had abnormal serum immunoglobulin levels, with levels improving in four patients at 1.4 years of age. The most common infection was pneumonia (69.4%). BCG vaccination was administered in 47 of 49 patients at birth. Among 32 patients who had T cell defect, one patient developed BCGitis and one developed disseminated BCG.

Conclusion: Immunodeficiencies identified among patients with 22q11.2 deletion syndrome were T cell defect (65.3%) and decreased immunoglobulin levels (12.2%). Median age of CD4 resolution was 2.5 years.

Citing Articles

22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.

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Infectious Complications of DiGeorge Syndrome in the Setting of Malignancy.

Hare H, Tiwari P, Baluch A, Greene J Cureus. 2022; 14(6):e26277.

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Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency.

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Clinical and immunophenotypic characteristics of patients with chromosome 22q11.2 deletion syndrome: a single institution's experience.

Nepesov S, Aygun F, Kucuksezer U, Tasdemir E, Cokugras H, Camcioglu Y Turk Pediatri Ars. 2019; 54(1):28-34.

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