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Wednesday, September 1, 2021

08-31-2021-1803 - CHAI disease immune autoimmune disease CREST syndrome RAS RAS-associated autoimmune leukoproliferative disorder RALD autoimmune leukoproliferative disorder (RALD)

 CHAI disease is a rare genetic disorder of the immune system that illustrates the role of CTLA-4 in cell signaling. CHAI stands for “Autoimmune lymphoproliferative syndrome due to CTLA4 haplo-insufficiency.”[1][2] The disease is characterized by variable combination of enteropathyhypogammaglobulinemia, recurrent respiratory infectionsgranulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.[1][3] It is closely linked to LATIAE disease.[1] Investigators in the laboratory of Dr. Michael Lenardo, National Institute of Allergy and Infectious Diseases at the National Institutes of Health first described this condition in 2018.[1][4]

https://en.wikipedia.org/wiki/CHAI_disease

RAS-associated autoimmune leukoproliferative disorder (RALD) is a rare genetic disorder of the immune system. RALD is characterized by lymphadenopathysplenomegalyautoimmunity, and elevation in granulocytes and monocytes. It shares many features with autoimmune lymphoproliferative syndrome and is caused by somatic mutations in NRAS or KRAS. This was first described by investigators João Oliveira and Michael Lenardo from the National Institutes of Health.[1]

https://en.wikipedia.org/wiki/RAS-associated_autoimmune_leukoproliferative_disorder

CREST syndrome, also known as the limited cutaneous form of systemic sclerosis (lcSSc), is a multisystem connective tissue disorder. The acronym "CREST" refers to the five main features: calcinosisRaynaud's phenomenonesophageal dysmotilitysclerodactyly, and telangiectasia.[2]

CREST syndrome is associated with detectable antibodies against centromeres (a component of the cell nucleus), and usually spares the kidneys (a feature more common in the related condition systemic scleroderma). If the lungs are involved, it is usually in the form of pulmonary arterial hypertension.

https://en.wikipedia.org/wiki/CREST_syndrome


Category:Autoimmune diseases

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