scholarly journals Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency

2020 ◽  
Vol 13 (2) ◽  
pp. e232741
Author(s):  
Simona Abraitytė ◽  
Elisabeth Kotsi ◽  
Lisa Anne Devlin ◽  
John David Moore Edgar
Keyword(s):  
T Cell ◽  
Digeorge Syndrome ◽  
Fungal Infections ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Cell Counts ◽  
Myeloperoxidase Deficiency ◽  
Rare Diagnosis

We report a case of a 3-year-old boy who presented with recurrent bacterial and fungal infections and a known diagnosis of partial DiGeorge (22q11.2 deletion) syndrome. The nature and severity of his infections were more than normally expected in partial DiGeorge syndrome with normal T-cell counts and T-cell proliferative response to phytohaemagglutinin. This prompted further investigation of the immune system. An abnormal neutrophil respiratory oxidative burst, but normal protein expression of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase system, led to the identification of myeloperoxidase deficiency. DiGeorge syndrome has a heterogeneous clinical phenotype and may not be an isolated diagnosis. It raises awareness of the possibility of two rare diseases occurring in a single patient and emphasises that even when a rare diagnosis is confirmed, if the clinical features remain atypical or unresponsive, then further investigation for additional cofactors is warranted.

Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety

2020 ◽  
Vol 182 (7) ◽  
pp. 1815-1818
Author(s):  
Ying Dou ◽  
T Blaine Crowley ◽  
Sean Gallagher ◽  
Alice Bailey ◽  
Daniel McGinn ◽  
...  
Keyword(s):  
T Cell ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Cell Counts

The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome

2020 ◽  
Vol 40 (5) ◽  
pp. 783-785
Author(s):  
Ying Dou ◽  
Erica Schindewolf ◽  
T. Blaine Crowley ◽  
Donna McDonald McGinn ◽  
Julie S. Moldenhauer ◽  
...  
Keyword(s):  
T Cell ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Fetal Thymus ◽  
Cell Counts ◽  
Thymus Size

scholarly journals Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

1999 ◽  
Vol 6 (6) ◽  
pp. 906-911 ◽  
Author(s):  
Kathleen E. Sullivan ◽  
Donna McDonald-McGinn ◽  
Deborah A. Driscoll ◽  
Beverly S. Emanuel ◽  
Elaine H. Zackai ◽  
...  
Keyword(s):  
T Cell ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
First Year ◽  
22Q11.2 Deletion ◽  
Cell Numbers ◽  
Cell Counts ◽  
Chromosome 22Q11.2 ◽  
Chromosome 22Q11.2 Deletion Syndrome ◽  
First Year Of Life

ABSTRACT 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.

scholarly journals Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome

2018 ◽  
Vol 8 (6) ◽  
pp. 313-316 ◽  
Author(s):  
Ann Marie Ruhe ◽  
Imran Qureshi ◽  
David Procaccini
Keyword(s):  
Digeorge Syndrome ◽  
Rare Complication ◽  
22Q11.2 Deletion Syndrome ◽  
Adolescent Male ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Clozapine Therapy ◽  
Chromosomal Disorder ◽  
Congenital Heart Malformations ◽  
Pediatric Populations

Abstract DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0.015% to 3%. Fulminant CIM has a nonspecific presentation in both adult and pediatric populations and a mortality rate approaching 50%. Few cases of pediatric CIM have been documented in the literature. This report highlights a case of CIM in an adolescent male with DiGeorge Syndrome whose clinical course was characterized by a subtle, nonspecific presentation and resolution with supportive care.

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