Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 52-year-old black woman presented with a 5-year history of gradual swelling and slowed hair growth involving the vertex and both parietal regions of the scalp. Gradually, the swelling progressed to involve the entire scalp, only sparing a peripheral crown. She reported no history of trauma or medications. Slight pruritus of the involved area was the only accompanying symptom. There was no family history of a similar condition. Her past medical history included surgery for ovarian cysts, 10 years previously, and cholelithiasis. Physical examination revealed diffuse hair thinning and alopecia, more prominent along the vertex and parietal regions (Fig. 1a). There was no evidence of scalp inflammation, scaling, or increased hair fragility. The scalp was mildly tender on palpation and had a boggy, spongy consistency. The hairs which still remained in the involved areas were thin, short, and soft (Fig. 1b). The involved area was slightly hypopigmented when compared with adjacent noninvolved scalp. The rest of the physical examination was within normal limits. No abnormalities of the hair shaft were observed on microscopic examination of several plucked hairs. Laboratory investigations, including a complete blood cell count, blood chemistry, urinalysis, sedimentation rate, antinuclear antibodies, and serologic tests for syphilis, hepatitis B and C virus, and human immunodeficiency virus, were negative. A computed tomography scan of the skull demonstrated diffuse and regular thickening of subcutaneous fatty tissue of the scalp, disclosing a maximum scalp thickness of 15 mm at the vertex (Fig. 2). The biopsy from the vertex revealed a normal epidermis and dermis, with diffuse loss of hair follicles. The most striking feature consisted of a large increase in thickness of the subcutaneous fatty tissue (Fig. 3a). Pre-existing hair follicles were replaced by vertical fibrous tracts of lamellar fibroplasia with no inflammatory infiltrate (Fig. 3b). Adipocytes showed a normal size and shape, but the connective tissue septa, which are normally present separating the subcutaneous tissue into fat lobules, were lacking, and subcutaneous fatty tissue consisted of a continuous and diffuse sheet of mature adipocytes (Fig. 3c). Orcein stain revealed normal contents of elastic fibers with foci of condensation at the sites of disappeared pre-existing hair follicles (Fig. 3d). Colloidal iron and Alcian blue (pH 2.5) stains revealed no mucin deposits.
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PMID:Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia. 1847 57

Ezetimibe (EZE), a selective inhibitor of intestinal cholesterol absorption, is mostly used in combination with statins across various patient populations. Besides its low-density lipoprotein cholesterol (LDL-C) lowering, EZE exerts different effects on several other variables. In an earlier review, we discussed the effects of EZE on lipid parameters other than LDL-C [e.g. C-reactive protein (CRP) levels, insulin sensitivity and endothelial function]. In the present review, we consider recent evidence regarding these topics as well as data reporting novel EZE actions. EZE may protect from cholelithiasis and non-alcoholic fatty liver disease (NAFLD) and appears as an effective lipid-lowering treatment option for human-immunodeficiency virus (HIV)-positive patients, transplant recipients and children with familial hypercholesterolaemia (FH). Studies with EZE that raised concern about its effects on atherosclerosis are also discussed. The potential clinical benefit of these actions with respect to vascular events and overall mortality remains to be established in appropriately designed trials.
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PMID:Ezetimibe; more than a low density lipoprotein cholesterol lowering drug? An update after 4 years. 2104 19

Fourteen human immunodeficiency virus (HIV)-infected patients receiving an atazanavir (ATV)-based antiretroviral regimen developed complicated cholelithiasis. ATV was found in biliary calculi in 8 of 11 cases: infrared spectrometry analysis of calculi revealed that ATV made up a median of 89% (range, 10%-100%) of the total calculus composition. Development and management of ATV-associated cholelithiasis are discussed.
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PMID:Complicated atazanavir-associated cholelithiasis: a report of 14 cases. 2282 May 40

Granular cell tumors (GCTs) are rare and benign tumors that can occur at any anatomical site. GCTs are thought to originate from nerve cells, particularly Schwann cells. Their name derives from the fact that an accumulation of cytoplasmic lysosomes imparts the tumor with a granular appearance. They are most commonly observed in the oral cavity, skin and subcutaneous tissue, breast, and respiratory tract. GCTs rarely affect the gastrointestinal tract. We report a 56-year-old female with a medical history of human immunodeficiency virus, hepatitis C, and cholelithiasis, who presented with abdominal pain. Upper endoscopy revealed a 1 - 2 cm solitary yellowish appearing nodule just distal to the GE junction. Biopsy of the nodule followed by histopathology was positive for S100, but negative for pancytokeratin immunostains. PAS staining highlighted cytoplasmic granules, further supporting the diagnosis of gastrointestinal GCT.
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PMID:Esophageal Granular Cell Tumor: A Case and Review of the Literature. 2931 47

Patients with Nijmegen breakage syndrome (NBS) can develop life-threatening immunodeficiency, which should be treated with hematopoietic stem cell transplantation (HSCT). We report the case of a 14-year-old girl with NBS who due to an increasing number of severe complications was referred for HSCT from a matched unrelated donor. After reduced-intensity conditioning and transplantation of peripheral blood hematopoietic cells, during the early post-transplant period (days 0-30), the girl suffered from severe mucositis, fever episodes, mild acute renal injury and facial vasculitis. All these complications were managed successfully. During the intermediate post-transplant period (days 30-100) a number of hepatic and gastrointestinal complications occurred, including cholecystitis, cholelithiasis with choledocholithiasis, pancreatitis as well as acute bleeding from the lower gastrointestinal tract caused by rectal and recto-sigmoid junction ulcers. All the obstacles were obviously attributable both to the primary congenital disease, its complications, and transplantation itself. We overcame these complications and treated the patient with the best possible and safe methods. The multidisciplinary approach based on combined surgical, endoscopic and conservative management of multiple post-transplant complications was successful for the patient.
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PMID:Complex profile of multiple hepatobiliary and gastrointestinal complications after hematopoietic stem cell transplantation in a child with Nijmegen breakage syndrome. 3187 22

A defect in the lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene is a newly defined rare cause of primary immunodeficiency diseases, which manifests as immune dysregulation and humoral immune deficiency. LRBA deficiency is a combined immunodeficiency. A boy with LRBA deficiency is described in this report. He had been diagnosed with Evans syndrome in a haematology clinic. He was referred to an immunology and allergy clinic for frequent respiratory tract infections. He also had hepatosplenomegaly but no lymphadenopathy. Immunological evaluation revealed hypogammaglobulinaemia, increased double-negative T cells, decreased memory B cells and switched B cells, and an inverted CD4/CD8 ratio. LRBA deficiency was considered due to common variable immunodeficiency-autoimmune lymphoproliferative overlap syndrome. A homozygote mutation (c.1964C>T) in LRBA was found through exome sequencing. Gastrointestinal investigation was performed due to unexplained abdominal pain. It revealed atrophic gastritis, partial villous atrophy, and multiple gallstones. There was no chronic diarrhoea or failure to thrive. The abdominal pain disappeared after a cholecystectomy. Multiple gallstones have not been reported in other LRBA-deficient patients who also had autoimmune haemolytic anaemia. Multiple gallstones that require cholecystectomy can develop in LRBA-deficient patients during adolescence.
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PMID:Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation. 3187 23


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