Gaucher’s Disease

Gaucher’s Disease is an autosomal recessive condition most common in Jews. There is β-glucocerebrosidase deficiency causing deposition of glucocerebroside and related compounds, leading to hepatosplenomegaly, CNS changes and bony infiltration. Glucocerebrosidase normally hydrolyzes glucocerebroside to glucose and ceramide. Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells (with onion skin appearance). Accumulation of […]

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Sea Blue Histiocytes

Sea Blue Histiocytes are large lipid-containing histiocytes in the bone marrow which stain sea blue in color. They may be found in a rare autosomal dominant condition characterized by neurological impairment and splenomegaly. Sea-blue–colored histiocytes have been described in the setting of high rates of intramedullary cell death due to lipid storage diseases (e.g. Niemann-Pick disease), myelodysplastic syndromes (MDS), lymphomas, […]

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Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive primary immunodeficiency disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis and impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections, albinism, a bleeding tendency, and often progressive neurological disease. Chediak-Higashi syndrome was described over 50 years ago. Initially […]

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Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) is a rare inherited disease but is of importance as the study of the condition has helped in the understanding of the phagocyte oxidase system. The inheritance is most commonly x-linked. Affected individuals suffer from recurrent infections, particularly with staphylococci. CGD is a primary immunodeficiency that affects phagocytes of the immune system and leads to recurrent […]

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Lupus Erythematosus (LE) Cells

LE Cell

Lupus Erythematosus (LE) Cells are neutrophils that have engulfed lymphocyte nuclei coated with and denatured by antibody to nucleoprotein. The Lupus Erythematosus (LE) cell was so termed because of its exclusive presence in the bone marrow of 25 patients with confirmed or suspected SLE at the Mayo Clinic. The first three cases were children, the first a 9‐yr‐old with, very […]

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Pelger-Huët Anomaly

Pelger-Huët anomaly is an autosomal dominant benign condition found in 1 in 6000 individuals. The characteristic leukocyte appearance was first reported in 1928 by Pelger, a Dutch hematologist, who described leukocytes with dumbbell-shaped bilobed nuclei, a reduced number of nuclear segments, and coarse clumping of the nuclear chromatin. In 1931 Huet, a Dutch pediatrician, identified it as an inherited disorder. […]

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Leishmaniasis

Cutaneous Leishmaniasis

Leishmaniasis is a disease caused by an intracellular protozoan parasite (genus Leishmania) transmitted by the bite of a sand fly. The disease is present in scattered areas worldwide. Human infection is caused by 20 Leishmania species that are morphologically indistinguishable but can be differentiated by laboratory analysis. Leishmania promastigotes are transmitted by sand flies to vertebrate hosts. The clinical spectrum of […]

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Lymphatic Filariasis

Elephantiasis

Lymphatic filariasis, considered globally as a neglected tropical disease (NTD), is a parasitic disease caused by microscopic, thread-like worms. The adult worms only live in the human lymph system. The lymph system maintains the body’s fluid balance and fights infections. Lymphatic filariasis is spread from person to person by mosquitoes. People with the disease can suffer from lymphedema and elephantiasis and […]

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Trypanosomiasis

Sleeping Sickness

American trypanosomiasis, also known as Chagas disease, affects millions of people throughout the Americas. Carlos Chagas first described this disease in 1911 when he discovered the parasite in the blood of a Brazilian child with fever, lymphadenopathy, and anemia. Trypanosoma cruzi, a protozoan hemoflagellate, is the parasite that causes this disease. When humans are infected, the parasite can cause acute […]

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Malaria

Malaria

Malaria is due to infection with specific protozoa of the Plasmodium genus. It is transmitted by the bite of an infective female Anopheles mosquito. The malaria parasite undergoes a single sexual cycle in the mosquito and recurrent asexual cycles, with the production of sexual forms (gametocytes) in man. Clinical features: The initial incubation period of malaria is 9-11 days. Malaria symptoms include […]

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