Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India

Objectives To study the incidence, clinical manifestations, and genetic spectrum of primary immunodefciency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India. Methods A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients had at least one or more warning signs of PID. Serum immunoglobulin levels and other targeted investigations were performed as warranted by the clinical presentation. All families with suspected PID were counseled and ofered genetic testing. Results A total of 225 children were evaluated for PID during the study period of 6 y. Fifty-six of them did not meet the European Society of Immunodefciencies (ESID) criteria (working defnition of clinical diagnosis) and were excluded. An IEI was found in 30/49 (61.2%) patients. The most frequent reason for referral was recurrent/unusual or serious infections (28%), or cytopenia (16%). Group IV diseases of immune dysregulation was the most common category (19%), followed by group III predominant antibody defciencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classifcation. Conclusions This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and eforts to provide optimal care for children with possible IEI in this center.

Papilloma of lip associated with human papilloma viruses‑32 infection in a child.

Squamous papilloma is the most common benign oral epithelial lesion, and it is well known to be associated with human papilloma virus 6 and 11. Here, we report a case of squamous papilloma associated with human papilloma viruses (HPV)‑32 in a 4‑year‑old boy who presented with a verrucous lesion on the lower lip. HPV‑32 is often associated with a rare benign condition focal epithelial hyperplasia (FEH). A limited number of lesions and the absence of characteristic histology ruled out FEH in our patient. To the best of our knowledge, the association of oral squamous papilloma with HPV‑32 is hitherto unreported.

Detection of Fetal Malnutrition by CAN Score at Birth and its Comparison with other Methods of Determining Intrauterine Growth.

Background: Fetal malnutrition (FM) and the terms ‘small for gestational age’ (SGA) and ‘intrauterine growth retardation’ (IUGR) are not synonymous, one may occur without the other. FM can be clinically assessed by using the Clinical Assessment of Nutritional Status (CAN) score. CAN score can assess the prevalence of FM among term newborns and is comparable to anthropometric criteria used to assess fetal growth. Methodology: A prospective cohort study was carried out at a tertiary referral hospital affiliated to a medical college, consisting of 200 singleton full-term neonates over a period of two months. In all neonates complete anthropometric assessment as per standard procedures and determination of weight for gestation was done. On the basis of Alexander and Associates intrauterine growth curves, newborns were classified into SGA and appropriate for gestational age (AGA). FM was assessed using CAN score as a standard and compared with weight for gestation age and Ponderal index (PI) Results: CAN score identified 17.5% (n = 35) malnourished neonates and 82.5% (n = 165) of babies as well-nourished by keeping the cut-off value of <25. Eight percent of AGA babies and 76.8% of SGA babies were found to be well-nourished on comparing weight for gestation age with CAN score. Sixteen (8%) babies were found to have FM using PI but by applying CAN score only 10 babies were found to have FM. The sensitivity and specificity of weight for gestational age were found to 82.85% and 41.81%, respectively and that of PI 28.57% and 96.36%, respectively, when CAN score was taken as standard. Conclusion: This implies that CAN score can identify fetal malnourishment in those neonates, which are missed by other methods.

Bilateral congenital split hand with tibial aplasia.

The authors report on a child with bilateral typical split-hand (ectrodactyly) and tibial aplasia, probably the first Indian report. Minor limb malformations in the maternal side suggests an autosomal dominant inheritance. The clinical spectrum and the inheritance of this malformation are discussed. Prenatal screening in families with such malformations is essential.

Chromobacterium violaceum septicemia.

Chromobacterium violaceum is an extremely rare human pathogen. We report a rare case of septicemia with multiple abscesses and otitis media in a newborn caused by chromobacterium violaceum.