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Immunology: A number of colourful concentric circles linked by arrows, labelled with seemingly random capital letters & numbers.
LRBA deficiency: rare immune disorder with autoimmunity, lymphoproliferation & immune deficiency from mutation in LRBA gene. Pts with CVID have IgA deficiency & incr risk of autoimmunity. LRBA pts have significant risk for ITP & hemolytic anemia too.
BENTA disease first noted in 2012
Dr. Bruce Mazer speaks about gain of function mutations in CARD11 and B-cell dysfunction. BENTA disease has marked B cell proliferation with lymphadenopathy, splenomegaly & recurrent infections. 1st noted in 2012.
BENTA disease has T cell anergy, huge numbers of B cells and dysfunction of CARD 11 resulting in dysfunction of NF-kB. BENTA disease is associated with a large increased risk for hematologic malignancies because of damage to NF-kB system.
Dr S Turvey presented an interesting case of MALT 1 mutation as a cause of immune deficiency: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167767/ . Dr Turvey's peds patient, who was profoundly ill with MALT 1 disease now doing very well after stem cell transplant.
Dr Chaim Roifman speaking on the last mutation in the NF-kB pathway RelB deficiency. Here's a link: https://t.co/tkzkf3qcZL . Chaim Roifman @SickKidsNews tells us that studying rare cases leads to a better understanding of more common diseases.
"We can study mice until the elephants come, but that doesn't tell us what will happen in humans." - Dr. Chaim Roifman.
Report: Children with invasive pneumococcal disease should be assessed for possible immunodeficiency. Can be IRAK-4 deficiency.
Dr. Luis Murguia speaks on CD40 deficiency in an adult pt with a novel mutation.
Case presented at #CSACI15 of pt with Hyper-IgM syndrome w/CD40 deficiency from CD40 mutation itself not the CD40 ligand as one would expect.
Primary intestinal lymphangiectasia, a protein-losing enteropathy can masquerade as SCID. They have low immunoglobulins & lymphopenia.
Dr. Adi Ovadia presents a case of an adult with a novel SH2 STAT 1 mutation causing CNS disease.
Ataxia-Telangiectasia case reported at #CSACI15. Higher likelihood in Mennonite population. This one misdiagnosed as severe asthma/pneumonia.
"Red flags" for Primary Immunodeficiency from Immunodeficiency Canada: https://t.co/VgQJF4353L