CD4 T cell –restricted IL-2 signaling defect in a patient with a novel IFNGR1 deficiency

A female child was referred to our institution at age 20  months after a protracted course of a febrile illness and cough associated with radiographic findings, demonstrating a large necrotic suprahilar lymph node impinging on the right main stem bronchus. Culture of the lymph node biopsy specimen, blood, and sputum identified Mycobacterium fortuitum an d Mycobacterium avium complex, whereas bronchoalveolar lavage specimen culture revealed the presence of Moraxella species. Other clinical findings included severe eczema for the first 6 months of life that was controlled by emollient use, development of chicken pox after Varivax (Merck& Co, West Point, Pa) administration at the age of 15  months, and several intermittent episodes of herpes simplex virus–induced gingivostomatitis starting at 8 months of age.

Source: Journal of Allergy and Clinical Immunology - September 16, 2017 Category: Allergy & Immunology Authors: Aaruni Khanolkar, Dawn A. Kirschmann, Edward A. Caparelli, Jeffrey D. Wilks, Jillian M. Cerullo, Jenna R.E. Bergerson, Lawrence J. Jennings, Ramsay L. Fuleihan Tags: Letter to the Editor Source Type: research