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Auto-immune pancytopenia in a child with DiGeorge syndrome
Bénédicte Bruno1, Catherine Barbier, Anne Lambilliotte
1Department of Paediatrics, Lille University Faculty of Medicine and Children's Hospital, Hôpital Jeanne de Flandre, Lille, France. benedictebruno@voila.fr
Insights
This case study highlights autoimmune pancytopenia in a child with DiGeorge syndrome (22q11 microdeletion syndrome). It suggests autoimmune diseases are part of this syndrome's broad clinical spectrum.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- DiGeorge syndrome, associated with the 22q11 microdeletion, presents a wide range of clinical manifestations.
- Autoimmune conditions are increasingly recognized as part of the complex phenotype of 22q11 microdeletion syndrome.
Observation:
- A pediatric patient with 22q11 microdeletion syndrome developed autoimmune pancytopenia at age 10.
- Clinical features included congenital heart disease, immunodeficiency, and dysmorphic facies.
- Laboratory findings revealed low T-cell counts, IgA deficiency, and positive antibodies against platelets and neutrophils, along with Coombs-positive red blood cells.
Findings:
- The patient experienced a severe hemolytic episode with pancytopenia at age 14, which responded to corticosteroid treatment.
- Mild pancytopenia persisted at age 16, even without treatment.
- Acrocyanosis was noted from age 15 onwards.
Implications:
- This case expands the known clinical spectrum of 22q11 microdeletion syndrome.
- It underscores the importance of considering autoimmune disorders, such as pancytopenia, in the diagnostic workup of individuals with 22q11 microdeletion syndrome.
Unlabelled:
We report on the development of auto-immune pancytopenia in a child with DiGeorge syndrome carrying the 22q11 microdeletion. She had congenital heart disease, dysmorphic facies, thymic hypoplasia, immunodeficiency, velopharyngeal insufficiency, scoliosis, and a hearing deficit. She had a low T-cell count with a normal CD4/CD8 ratio, IgA deficiency and a normal lymphoblastic response to mitogens. She has presented with pancytopenia since 10 years of age (leucocytes 3,300/mm(3), haemoglobin 107 g/l, platelets 80,000/mm(3)). Platelet-associated antibodies, anti-neutrophil antibodies and Coombs' positive red cells were present. At 14 years of age, she presented with a severe episode of haemolysis with pancytopenia. Steroids were effective in treating the pancytopenia at a dose of 2 mg/kg per day for 6 weeks. Since 15 years of age, she has had episodes of acrocyanosis. At 16 years of age, she still had mild pancytopenia without any treatment.
Conclusion:
the clinical spectrum of the 22q11 microdeletion syndrome is very broad. This case suggests that auto-immune disease such as pancytopenia is part of the 22q11 microdeletion syndrome.
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