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Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency

Clinical overview and patient information

Diagnosing Vitamin B12 Deficiency in the UK Diagnosis of vitamin B12 deficiency in the UK follows a structured approach combining clinical assessment, biochemical testing, and investigation of underlying causes, as outlined in guidance from NICE and the British Society for Haematology

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This hyperresponsive immune phenotype persists in allergic adolescents, marked by increased circulating dendritic/monocyte populations and elevated secretion of IL-6, IL-1, and TNF- upon LPS challenge (150)