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LPS-responsive Beige-like Anchor Protein Deficiency
LPS-responsive beige-like anchor protein deficiency is a rare genetic condition caused by the absence of LPS-responsive beige-like anchor protein (''LRBA''). Signs and symptoms The presentation of this condition is variable making the diagnosis difficult. The most common features includeGámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B (2016) The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immunol 137(1):223-230 * Immune dysregulation (95%) * Organomegaly (86%) * Recurrent infections (71%) * Hypogammaglobulinemia (57%) * Granulomatous lymphocytic interstitial lung disease (38%) There is also a tendency to develop inflammatory bowel disease. Genetics The LBRA gene is located on the long arm of chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LRBA
Lipopolysaccharide-responsive and beige-like anchor protein is a protein that in humans is encoded by the ''LRBA'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in polarized trafficking of vesicles in a number of immune system cell types. In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH (beige and CHS1) domain and C-terminal WD repeats. LRBA contains key features of both beige/CHS1 and A kinase anchor proteins (AKAPs; see MIM 602449). upplied by OMIMref name="entrez"> Deficiency of this protein in humans causes the condition known as LPS-responsive beige-like anchor protein defi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypogammaglobulinemia
Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are produced in the blood (thus '' hypo-'' + ''gamma'' + ''globulin'' + '' -emia''). This results in a lower antibody count, which impairs the immune system, increasing risk of infection. Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as common variable immunodeficiency, or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria. Patients with hypogammaglobulinemia have reduced immune function; important considerations include avoiding use of live vaccines, and take precautionary measures when traveling to regions with endemic disease or poor sanitation such as receiving immunizations, taking antibiotics abroad, drinking only safe or boiled water, arranging appropriate medical cover in advance of travel, and ensuring continuatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Granulomatous Lymphocytic Interstitial Lung Disease
A granuloma is an aggregation of macrophages that forms in response to chronic inflammation. This occurs when the immune system attempts to isolate foreign substances that it is otherwise unable to eliminate. Such substances include infectious organisms including bacteria and fungi, as well as other materials such as foreign objects, keratin, and suture fragments. Definition In pathology, a granuloma is an organized collection of macrophages. In medical practice, doctors occasionally use the term ''granuloma'' in its more literal meaning: "a small nodule". Since a small nodule can represent any tissue from a harmless nevus to a malignant tumor, this use of the term is not very specific. Examples of this use of the term ''granuloma'' are the lesions known as vocal cord granuloma (known as contact granuloma), pyogenic granuloma, and intubation granuloma, all of which are examples of granulation tissue, not granulomas. "Pulmonary hyalinizing granuloma" is a lesion characteri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
