Severe combined immunodeficiency (SCID) associated neutropenia: a lesson from monozygotic twins.

Abstract

A case of severe combined immunodeficiency (SCID) in monozygotic twin sisters was detected at 3 months of age with neutropenia in one twin and a normal differential count in the other. The neutropenic twin, suffering from severe skin ulcers, was successfully treated with granulocyte colony stimulating factor (G-CSF). Discordant occurrence of neutropenia in identical twins shows that there may be a non-genetic cause for the neutropenia in SCID. Suppression of myelopoiesis was probably induced by activated maternal T cells. The neutropenia in this case may thus be classified as SCID associated neutropenia, as opposed to reticular dysgenesis, in which the neutropenia is G-CSF refractory and is most probably caused by a genetic stem cell defect. A response to G-CSF in a neutropenic child with SCID can be clinically beneficial and might help to distinguish between G-CSF unresponsive reticular dysgenesis and G-CSF responsive SCID associated neutropenia.

• Authors: T Niehues, K Schwarz, M Schneider, H Schroten, E Schröder, V Stephan, V Wahn
• Journal: Archives of disease in childhood (Arch Dis Child) Vol. 74 Issue 4 Pg. 340-2 (Apr 1996) ISSN: 1468-2044 [Electronic] England
• PMID: 8669937 (Publication Type: Case Reports, Journal Article)

Chemical References

• Granulocyte Colony-Stimulating Factor

Topics

• Diseases in Twins
• Female
• Granulocyte Colony-Stimulating Factor (therapeutic use)
• Humans
• Infant
• Neutropenia (etiology, therapy)
• Severe Combined Immunodeficiency (complications)
• Twins, Monozygotic