Natural Killer Cell Deficiency in Neuroblastoma Amplified Sequence Gene Mutation.

ABSTRACT: Natural killer cell deficiency (NKD) occurs when decreased levels of such cells lead to major immunological deficiency in the patient. NK cells participate in tumor cell surveillance, viral infections, and immunoregulation in the body. We report a case of a nine-year-old female child, a known case of neuroblastoma amplified sequence (NBAS) gene mutation in the variant c.2819A>C (p. His940Pro), which causes infantile liver failure syndrome type 2 (ILFS2). The patient had been treated at four years of age for a three-day history of vesicular skin rashes in the L2 dermatome of the left leg, with pain and without swelling or redness, ear discharge, low appetite, and decreased activity. Also, she had already had multiple admissions due to different types of infections like viral hepatitis, urinary tract infection, Salmonella bacteremia, gastroenteritis, recurrent hepatitis, follicular tonsilitis, pneumonia, mastoiditis, and varicella-zoster infection. Flow cytometry revealed low levels of CD56⁺ and CD16⁺ (2%). Recently, she has shown improvement by gaining weight and appetite following interferon-beta 1a injection.

SUBMITTER: Albar RF 

PROVIDER: S-EPMC8643616 | biostudies-literature |

REPOSITORIES: biostudies-literature