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This report illustrates a case that would have been missed in the most common screening algorithms used worldwide in newborn screening (NBS) for severe combined immunodeficiency (SCID). Our patient presented with a clinical picture that suggested a severe inborn error of immunity (IEI). The 6-monthold baby had normal T-cell receptor excision circle (TREC) levels but no measurable level of kappa-deleting recombination excision circles (KRECs) in the NBS sample. A de novo IKZF1-mutation (c.476A>G, p.Asn159Ser) was found. The clinical picture, immunologic workup, and genetic result were consistent with IKZF1-related combined immunodeficiency (CID). Our patient had symptomatic treatment and underwent allogeneic hematopoietic cell transplantation (HCT). IKZF1-related CID is a rare, serious, and early-onset disease; this case provides further insights into the phenotype, including KREC status. [ABSTRACT FROM AUTHOR]

Background: Sub-Saharan Africa has a long history of struggling with child undernutrition. The prevalence of undernutrition is still high and knowledge about this public health problem and the underlying causes is essential for children's health. Aim: To evaluate the anthropometric status of children under five in the Bandja village of Cameroon. Methods: A cross-sectional study was undertaken that included 388 children. Undernutrition was evaluated in terms of wasting, stunting and underweight. Information on sex, age, birth order, birth interval, duration of breastfeeding, and mother's age at birth, occupation and educational level were collected. Results: The prevalence of wasting, stunting and underweight was 3.2%, 16.4% and 5.2%, respectively. Boys were more stunted than girls (OR 2.24; 95% CI 1.16–4.34). Children less than 30 months were more often wasted than older children (OR 17.70; 95% CI 1.82–172.40). The first and second born in order were more stunted than the third or later born in order (OR 2.06; 95% CI 1.02–4.18). Children of farming mothers were more often stunted (OR 2.87; 95% CI 1.35–6.13) and underweight (OR 3.47; 95% CI 1.09–11.09) than others. Children still being breastfed were more underweight (OR 6.52; 95% CI 1.31–32.43) than those whose mothers had finished breastfeeding. Conclusion: Undernutrition is highly prevalent in Bandja, and is more common among boys, younger children, first born in order, children still being breastfed and children of farming mothers. This study underlines the importance of intervention to prevent and reduce undernutrition among children. [ABSTRACT FROM AUTHOR]