Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma ( IL2RG ) gene. The mother was found to be a carrier. These findings are consistent with a diagnosis of X-linked severe combined immunodeficiency and represent the first such reported mutation in an Indian family. This mutation leads to an asparagine to lysine substitution (p.Asn84Lys) located in the extracellular domain of IL2RG, which is predicted to be pathogenic. Our study demonstrates the power of next-generation sequencing in identifying potential causative mutations to enable accurate clinical diagnosis, prenatal screening, and carrier female detection in PID patients. We believe that this approach, which is not a current routine in clinical practice, will become a mainstream component of individualized medicine in the near future.

Introduction: Basal cell carcinoma (BCC) is a common example of basaloid tumor accounting for approximately 70% of all skin cancers. Periocular skin and eyelids are common sites of neoplastic lesions of the head and neck. Even though BCC is a slowly growing tumor with no metastases, it poses a threat in the periocular region due to its closeness to vital structures. Materials and Methods: The study comprised periocular BCCs diagnosed from July 2011 to June 2016. Clinical details were collected for the specimens. Microscopic findings were analyzed on hemotoxylin and eosin stained sections. Results: Of the 123 periocular tumors in a period of 5 years, 27 were malignant epithelial tumors. Of these, 23 cases were BCC, common in females (20 cases), and the most common age group was 60-69 followed by 70-79 years. Most common presentation was an ulcerated lesion and 31.8% of the lesions were in the medial canthus. Conclusion: All our cases were periocular lesions, so they were of high risk. Two patients were genetically predisposed and younger than 40 years, and two patients had recurrences. The referral patterns will be influenced by the concept of risk type (low or high) for BCC. Identification of lesions at the earliest can reduce the associated morbidity and recurrences.

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