A case report of a congenital immune deficiency disease –WHIM syndrome

Abstract

Background: WHIM syndrome is a rare primary immunodeficiency disorder. WHIM is an acronym for some of the characteristic symptoms of the disorder; warts, hypogammaglobulinemia, infections, and myelokathexis. Case-report: A 23-year-old male with a history of recurrent cutaneous and respiratory tract infections -since early childhoodwas presented with chronic productive cough, fever, pleuritic chest pain, chills and sweating. Preclinical investigation showed leukopenia, neutropenia, myelokathexis and hypogammaglobulinemia. Patient was diagnosed for WHIM syndrome he also had a positive HBs Ag with normal LFT tests. He was treated with Ciprofloxacin, Vancomycin and IVIG but due to withdrawing the next sessions of IVIG; he was admitted 2 more times with respiratory tract infection and pneumonia that was treated with antibiotics and IVIG again and was discharged with good condition. He is on monthly IVIG and tenofovir because of being HBs Ag positive. Conclusion: This case report provides data of a patient with recurrent respiratory and cutaneous infection who was diagnosed with WHIM syndrome and had a positive Hbs Ag However, his liver function test was normal. *Correspondence to: Sohrab Aghabeigi, MD, Department of Internal Medicine, Iran University of Medical Sciences, Tehran, Iran. E-mail: doctorsohrabaghabeigi@gmail.com