Background:The UK primary immunodeficiency network (UK PIN) recommends that children < 2 years with an absolute lymphocyte count (ALC) of < 3000/μl must be screened for severe combined immunodeficiency (SCID).
Objective:A retrospective audit was carried out in Heart of England NHS Foundation Trustto assess if UK PIN guidelines are being followed in children less than 3 months with an ALC of < 3000/μl.
Methods:Infants (<3 months) with lymphopaenia were identified from laboratory records between 2000-2002. Other results and clinical records were reviewed for clinical features of and risk factors for SCID.
Results:Amongst the 619 patients identified, none had an established diagnosis of SCID. 60 patients were found to have persistent lymphopaenia together with some clinical features suggestive of SCID. Hospital notes were available for 57 of these. The presence of lymphopaenia was noted only in one patient. SCID was not documented as a differential diagnosis and no investigations were requested for SCID in these patients. 9 patients had at least 2 suspicious clinical episodes in the presence of at least one risk factor/associated congenital abnormality.
Conclusion:UK PIN guidelines were not followed in lymphopaenic patients. Lymphopaenia is a common finding and given that SCID is a rare condition, it may be not be cost-effective to strictly implement UK PIN guidelines for investigation of SCID in all lymphopaenic children in this age group. Where relevant clinical features or specific risk factors are identified, paediatricians should liaise with immunologists for consideration of further investigation.
- primary immunodeficiency