Thelansis

  WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is an autosomal dominant immune deficiency present from birth, characterized by the abnormal retention of mature neutrophils in the bone marrow (myelokathexis). It can also result in occasional hypogammaglobulinemia, increasing the risk of bacterial infections and susceptibility to human papillomavirus (HPV)-related issues like warts, genital dysplasia, and invasive mucosal carcinoma. The underlying cause of WHIM syndrome is heterozygous gain of function mutations in the CXCR4 gene (2q21), which encodes a chemokine receptor expressed on mature leukocytes. This gene involves several critical processes, including bone marrow cell adhesion, myelopoiesis, and lymphopoiesis. Mutations in CXCR4 lead to prolonged receptor activation, causing the retention of neutrophils and other leukocytes in the bone marrow. WHIM syndrome presents a varied clinical picture, usually in early childhood with recurrent bacterial...