Libyan Boy with Autosomal Recessive Trait (p22-phox defect) of Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a primary immune deficiency disorder of the phago-cytes. In this disorder, phagocytic cells (polymorphonuclear leukocytes and monocytes) can-not produce active oxygen metabolites and, therefore, cannot destroy the ingested intracellular bacteria. Clinically, patients with CGD usually have recurrent bacterial and fungal infections causing abscess and granuloma for-mation in the skin, lymph nodes and visceral organs.In this report, we present a boy from Libya with a rare autosomal recessive trait of CGD (defect of p22phox) who has chronic lun disease following multiple severe pneumonia attacks. The case we present suffered from bloody diarrhea since the third month of www.ljm.org.ly page163 Libyan Journal of Medicine, Volume 1, 2006ljmhis life. He also had recurrent episodes of fever, and later, developed persistent cervical lym- phadenitis and failure to gain weight. CGD is a very rare condi-tion worldwide. It is also not rec-ognized here in Libya, and usu-ally not in the list of differential diagnosis for chronic pulmonary infections. We advise that pediatricians and general practitioners who treat chronic cases of lung diseases (with or without chronic diarrhea) should consider primary immunodeficiency disorders in the hope that early diagnosis and treatment maprevent chronic complications especially of the respiratory tract. Furthermore, we state that, to the best of our knowledge, this is the first documented case of CGD from Libya.killing is usually caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxi-dase enzyme complex. NADPH is the enzyme that generates the microbicidal respiratory burst [2, 3]. The deficiencies of oxidative metabolism are usually detected with either the nitroblue tetrazolium (NBT) dye test or the dihydrorhodamine (DHR) oxidation test. These tests are based on the ability of products of oxidative metabolism to alter the oxidation states of reporter molecules so that they can be detected microscopically (in the case of NBT) or by flow cytometry (in the case of DHR) [4]. However, NBT test, al-though more conventionally used, is sometimes not sufficiently sen-sitive. Therefore, many investiga- tors have preferred the use of the DHR test [5]