Clinical Manifestations of Wiskott-Aldrich Syndrome in an Iranian Patient

Abstract

Wiskott-Aldrich Syndrome (WAS) is an immunodeficiency disorder resulting from genetic mutations in the WAS protein (WASP) gene in the X chromosome, characterized by thrombocytopenia, eczema, and infections. This case report focused on a 12-year-old Iranian male with WAS with a history of Crohn’s disease, meningitis, and bilateral hernia. His WAS was diagnosed at age six with a hemizygous c.777+1 G>A mutation in the WASP gene. The patient was referred to our clinic with symptoms including fever, abdominal pain, thrombocytopenia, and elevated ESR. Clinical Imaging revealed a significant lung nodule align bronchiectasis, mild ascites, bilateral epididymitis, and lymphadenopathy. Nephrotic syndrome with proteinuria and low levels of albumin have been observed. After six months of receiving intravenous immunoglobulin (IVIG) therapy in addition to antibiotics and antivirals, the patient suffered from arthritis, edema, and fever. Our WAS patient presented the late comorbidity of renal involvement, which highlights the monitoring of this patient, such as those involved in chronic infections. Therefore, a precise treatment approach is needed to manage either the primary immunodeficiency or the late-discovered diseases.