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[Early recognition and successful treatment of an infant with severe combined immune deficiency]
Bernadett Mosdósi1, Tamás Decsi, Kálmán Nagy
1Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Gyermekklinika. bernadett.mosdosi@aok.ptc.hu
Insights
Severe combined immunodeficiency (SCID) in an infant was successfully treated with haploidentical maternal bone marrow transplantation (BMT). This early intervention led to normal development and restored immune function, marking a significant advancement in Hungary.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Severe combined immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in cellular and humoral immunity.
- T-B-NK+ SCID represents a severe form, impacting T cells, B cells, and Natural Killer cells, leading to susceptibility to opportunistic infections and failure to thrive.
Observation:
- A three-month-old male infant presented with recurrent mucosal and fungal infections, diarrhea, and failure to thrive since three weeks of age.
- Laboratory tests confirmed T-B-NK+ severe combined immunodeficiency (SCID), with family history and immunological findings suggesting an autosomal recessive inheritance pattern.
Findings:
- The patient underwent haploidentical maternal bone marrow transplantation (BMT) at five and a half months of age.
- Over two years post-BMT, the child exhibited normal somatomotoric and mental development.
- Evidence of immunoreconstruction was observed, including restored cellular immune responses and substantial immunoglobulin production.
Implications:
- This case represents the first diagnosed and treated T-B-NK+ SCID patient in Hungary during infancy.
- Early diagnosis and timely BMT can lead to successful immunoreconstruction and normal neurodevelopmental outcomes in infants with SCID.
- Highlights the importance of genetic and immunological evaluation for infants presenting with recurrent infections and failure to thrive.
Abstract:
A male infant of three month presented with recurrent mucosal and fungal infections, diarrhoea and failure to thrive from the age of three weeks. Laboratory test revealed T-B-NK + severe combined immunodeficiency (SCID). Family history and immunolaboratory findings suggested autosomal recessive form of the disease. Haploidentical maternal bone marrow transplantation (BMT) was carried out at five and half months of age. Over the two years after BMT, the patient's somatomotoric and mental development is normal. Cellular immune responses and the substantial immunoglobulin production suggest immunoreconstruction in the child born with complete lack of adaptive immunity. According to the author's knowledge, this is the first T-B-NK + patient in Hungary, whose disease was diagnosed and adequately treated in infancy.