Chapter 3, Problem 14Q

Summary Introduction

Case summary:

A patient, age 2 years reported with frame-shift mutation in the Iκκ-γ gene or NEMO, encoded on X-chromosome. The patient suffers from NEMO deficiency syndrome.

Characters in the case:

Jaxon Markowski, the patient under evaluation. Mother who is a heterozygous carrier. Sister, healthy 7 year old girl.

Adequate information:

The patient was underweight since birth, runs higher temperature than normal without any sweating. He also has diffused alopecia, frontal bossing, cone shaped teeth and periorbital darkening and wrinkling. He has lower than normal IgG and IgA but normal IgM along with low NK cell numbers. His skin shows granulomatous inflammation with Mycobacterium avium infection for which he was treated with IVIG and antibiotics.

To Determine:

The consequence of the given mutation in Iκκ-γ gene.