A rare cause of hypocalcaemia with immune-deficiency recognized in adulthood
Abstract
This article presents the case of a 37-year-old female patient. In childhood, she underwent reconstructive surgery due to tetralogy of Fallot. At the age of 29, she was evaluated because of recurrent lower respiratory tract infections, and a diagnosis of common variable immunodeficiency with low immunoglobulin levels was established. Immunoglobulin replacement therapy was initiated at our department. At her first presentation routine laboratory testing revealed severe hypocalcemia. In the background, low parathyroid hormone levels were found despite normal magnesium levels, leading to the diagnosis of hypoparathyroidism. Based on the patient’s characteristic facial features (flattened philtrum, broad nasal bridge) and her congenital heart defect, DiGeorge syndrome was strongly suspected and subsequently confirmed by genetic testing. Detailed immunological evaluation confirmed common variable immunodeficiency, which is not part of the DiGeorge syndrome phenotype and is likely a coincidental finding. Interestingly, no T-cell defect typically associated with the thymic hypoplasia of DiGeorge syndrome was observed. DiGeorge syndrome is a hereditary multisystem disorder that is usually recognized in early childhood in the context of congenital heart disease or symptomatic severe hypocalcemia. The peculiarity of this case lies in the fact that hypocalcemia was only identified in adulthood, and the associated immunodeficiency was unrelated to the syndrome itself.
fact that hypocalcemia was only identified in adulthood, and the associated immunodeficiency was unrelated to the syndrome itsel
References
Patel K, Akhter J, Kobrynski L és mtsai: Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome. J Pediatr 2012; 161: 950-953.
Khaleque A, Bhandarkar R: Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report. Clinical Medicine Insights: Psychiatry 2023 [cited 18 May 2025]. https://doi.org/10.1177/11795573231168518
Ingrao T, Lambert L, Valduga M és mtsai: 22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis]. Arch Pediatr 2017; 24: 1067-1075. https://doi.org/10.1016/j.arcped.2017.08.017
McDonald-McGinn DM, Hain HS, Emanuel BS és mtsai: 22q11.2 Deletion Syndrome. GeneReviews® [Internet]. University of Washington, Seattle; 2025. 5. Yutzey KE: DiGeorge syndrome, Tbx1, and retinoic acid signaling come full circle. Circ Res 2010; 106: 630-2.
Maldjian P, Sanders AE: 22q11 Deletion Syndrome with Vascular Anomalies. J Clin Imaging Sci 2018 22; 8: 1. https://doi.org/10.4103/jcis.JCIS_66_17
McDonald-McGinn DM, Sullivan KE, Marino B és mtsai: 22q11.2 deletion syndrome. Nat Rev Dis Primers 2015; 1: 15071. https://doi.org/10.1038/nrdp.2015.71
Forstner AJ, Degenhardt F, Schratt G és mtsai:. MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Front Mol Neurosci 2013; 6: 47. https://doi.org/10.3389/fnmol.2013.00047
Menghi M, Micangeli G, Tarani F és mtsai: Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. Int J Mol Sci 2023; 24: 4242. https://doi.org/10.3390/ijms24044242
Palmer LD, Butcher NJ, Boot E és mtsai: Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome. Am J Med Genet A 2018; 176: 936-944. https://doi.org/10.1002/ajmg.a.38645
Wylazłowska AJ, Grabarczyk M, Gorczyca M és mtsai: Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease c-ase report and literature review. Pediatr Endocrinol Diabetes Metab 2023; 29: 259-266.
Zammit A, Grech Marguerat D, Psaila J és mtsai: DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood. Case Rep Med 2013; 2013: 923129. https://doi.org/10.1155/2013/923129
Vuralli D: Clinical Approach to Hypocalcemia in Newborn Period and Infancy: Who Should Be Treated? Int J Pediatr 2019; 2019: 4318075.
Oskarsdóttir S, Holmberg E, Fasth A és mtsai: Facial featu-res in children with the 22q11 deletion syndrome. Acta Paediatr. 2008; 97: 1113-1117. https://doi.org/10.1111/j.1651-2227.2008.00858.x
Gao, W., Higaki, T., Eguchi-Ishimae, M és mtsai: DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects. Hum Genome Var 2, 15004 (2015). https://doi.org/10.1038/hgv.2015.4
Horenstein MS, Diaz-Frias J, Guillaume M: Tetralogy of Fallot. StatPearls [Internet]. StatPearls Publishing; 2024.
Minakawa S, Nakano H, Takeda H és mtsai: Chromosome 22q11.2 deletion syndrome associated with severe eczema. Clin Exp Dermatol. 2009; 34: 410-411. https://doi.org/10.1111/j.1365-2230.2008.02940.x
Zemble R, Luning Prak E, McDonald K és mtsai: Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010; 136: 409-418. https://doi.org/10.1016/j.clim.2010.04.011
McLean-Tooke A, Spickett GP, Gennery AR: Immunodeficiency and Autoimmunity in 22q11.2 Deletion Syndrome. Scan-dinavian Journal of Immunology. 2007; 66: 1-7. https://doi.org/10.1111/j.1365-3083.2007.01949.x
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