A rare case report: ICOS and WIPF1 mutation together in a patient

Abstract

Background and Aims: We report a girl with novel inducible co-stimulator (ICOS) and novel WIPF1 mutations. Methods: A 12 year old female patient presented with bloody diarrhea, weight loss, swelling in both knees that started two weeks ago. In the history of the patient: she had convulsions, stayed in the hospital for 3 months due to peeling and bleeding of her skin at the age of 6 months, started to have otitis media 20 times a year at the age of 2. At the age of 9, she started to have diarrhea and had thrombocytopenia causing intracranial bleeding. In her family history, her parents were cousins, her aunt died due to bowel disease, two of her uncles died due to leukemia, both grandfathers had thrombocytopenia. In the physical examination; Her height and weight were <3persentil, diffuse crepitant ral was present in her lungs, she had splenomegaly, arthritis and clubbing. Results: Ig G (190 mg/dl) and Ig A (<60 mg/l) levels were low, Ig M, CD3, CD4, CD8, CD19, CD16/56 were within the age-appropriate range, switched and unswitched memory B cells were decreased. The immune dysregulatory manifestations were controlled by corticosteroids, salazopyrin and intravenous immunoglobulin. Immunodeficiency genetic panel with next generation clinical sequencing: WIPF1(c.310T>C) and ICOS (c.221_222delCA) homozygous mutations. Conclusions: ICOS deficiency was first described in 2003; characterized with recurrent sinopulmonary infections, autoimmunity, inflammatory bowel disease and malignancy. WIPF1 mutation causes Wiscot-Aldrich syndrome type2, characterized by thrombocytopenia, immunodeficiency and eczema. Two rare genetıc diseases in the same patient should not be a surprise for regions with high consanguineous marriages.