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Old 07-03-2011
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Arrow Chronic glaucomatous disease

Chronic glaucomatous disease is a defect of phagocytic cells due to dysfunction of the NADPH oxidase enzyme complex, leading to recurrent infections from catalse positive organisms. They include staph aureus, serratia marcescens,, burkholderia, klebsiella, and aspergillus. The dx is made by nitro blue tetrazolium slide test, flow cytometry, or cytochrome C reduction.
Tx includes prevention of infection with daily TMP-SMX and gamma-interferon 3 times a week. Bone marrow transplantation is experimental but curative.

Wiskott-Aldrich syndrome is an x-linked recessive disease caused by a defective gene encoding for wiskott-Aldrich syndrome protein. The classic presentation involves a young boy with eczema, thrombocytopenia, and recurrent infections with encapsulated germs. Immunologic findings include low IgM, high IgA and IgE, poor antibody responses to polysaccharide antigens, and moderately reduced number of T cells and platelets.

Chediak-higashi is characterized by decreased degranulation, chemo taxis, and granulopoiesis. It is a multisystem disorder with mild coagulopathy, peripheral and cranial neuropathy, hepatosplenomegaly, pancytopenia, partial oculocutaneous albinism, frequent bacterial infections (usually staph aureus) and progressive lymphoproliferative syndrome.
The findings of neutropenia and giant lysosomes in neutrophils will confirm the dx.
Tx includes prevention of infection with daily TMP-SMX and daily ascorbic acid.

Leukocyte adhesion defect: results from failure of host defenses due to defective tethering, adhesion, and targeting of myeloid leukocytes to sites of microbial invasion. Pts have Europhilia without polymorphs in the infected tissue or pus. Patients will have a history of delayed separation of the umbilical cord, recurrent bacterial infections, necrotic skin lesions, periodontitis, and alveolar bone loss leading to early loss of deciduous and permanent teeth.

Hyper-IgE (job’s) syndrome: characterized by chronic pruritic dermatitis, recurrent staph infections (skin and respiratory tract), markedly elevated serum IgE levels, eosinophilia, and coarse facial features.
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dr_toffee (11-02-2015)


Infectious-Diseases, Pediatrics-

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