No 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.

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the disease. We report a case of a 41-month-old girl who suffered from intractable watery diarrhea, hair abnormality, dysmorphic features, and poor weight gain. The diagnosis was made through whole-exome sequencing analysis. The analysis detected a new variant mutation ( c.1201G > A ) p. (Glu401Lys) in the SKIV2L gene. She was admitted once for poor weight gain and nasogastric tube (NGT) feeding, with which the patient showed improvement. She was discharged to go home on hypoallergenic baby formulas and a regular diet with improved weight gain.