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10.1007/s10875-014-0121-5 http://scihub22266oqcxt.onion/10.1007/s10875-014-0121-5 C4479182!4479182 !25516070     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25516070 &cmd=llinks): Failed to open stream: HTTP request failed! 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Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders |pdf=|usr=}}{{25516070 }} gab.com Text Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders JO: J Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=25516070 #FOAvip PURPOSE: Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical clinical features, next generation sequencing was applied documenting RAG deficiency in both patients. METHODS: Two different genetic analysis techniques were applied in these patients including whole exome sequencing in one patient and the use of a gene panel designed to target genes known to cause primary immunodeficiency disorders (PIDD) in a second patient. Sanger dideoxy sequencing was used to confirm RAG1 mutations in both patients. RESULTS: Two young adults with a history of recurrent bacterial sinopulmonary infections, viral infections, and autoimmune disease as well as progressive hypogammaglobulinemia, abnormal antibody responses, lymphopenia and a prior diagnosis of CVID disorder were evaluated. Compound heterozygous mutations in RAG1 (1) c256_257delAA, p86VfsX32 and (2) c1835A>G, pH612R were documented in one patient. Compound heterozygous mutations in RAG1 (1) c.1566G>T, p.W522C and (2) c.2689C>T, p. R897X) were documented in a second patient post-mortem following a fatal opportunistic infection. CONCLUSION: Astute clinical judgment in the evaluation of patients with PIDD is necessary. Atypical clinical findings such as early onset, granulomatous disease, or opportunistic infections should support the consideration of atypical forms of late onset CID secondary to RAG deficiency. Next generation sequencing approaches provide powerful tools in the investigation of these patients and may expedite definitive treatments. Twit Text FOAVip Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders ????J Clin Immunol http://www.kidney.de/pget.php?&tw=1&pmid=25516070 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25516070 #FOAvip English Wikipedia <ref>{{Cite pmid|25516070 }}</ref> Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders #MMPMID25516070 Buchbinder D ; Baker R ; Lee YN ; Ravell J ; Zhang Y ; McElwee J ; Nugent D ; Coonrod EM ; Durtschi JD ; Augustine NH ; Voelkerding KV ; Csomos K ; Rosen L ; Browne S ; Walter JE ; Notarangelo LD ; Hill HR ; Kumánovics A J Clin Immunol 2015[Feb]; 35 (2 ): 119-24 PMID25516070 show ga PURPOSE: Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two patients presented with the prior clinical diagnosis of common variable immunodeficiency (CVID) disorder marked by an early age of presentation, opportunistic infections, and persistent lymphopenia. Due to the presence of atypical clinical features, next generation sequencing was applied documenting RAG deficiency in both patients. METHODS: Two different genetic analysis techniques were applied in these patients including whole exome sequencing in one patient and the use of a gene panel designed to target genes known to cause primary immunodeficiency disorders (PIDD) in a second patient. Sanger dideoxy sequencing was used to confirm RAG1 mutations in both patients. RESULTS: Two young adults with a history of recurrent bacterial sinopulmonary infections, viral infections, and autoimmune disease as well as progressive hypogammaglobulinemia, abnormal antibody responses, lymphopenia and a prior diagnosis of CVID disorder were evaluated. Compound heterozygous mutations in RAG1 (1) c256_257delAA, p86VfsX32 and (2) c1835A>G, pH612R were documented in one patient. Compound heterozygous mutations in RAG1 (1) c.1566G>T, p.W522C and (2) c.2689C>T, p. R897X) were documented in a second patient post-mortem following a fatal opportunistic infection. CONCLUSION: Astute clinical judgment in the evaluation of patients with PIDD is necessary. Atypical clinical findings such as early onset, granulomatous disease, or opportunistic infections should support the consideration of atypical forms of late onset CID secondary to RAG deficiency. Next generation sequencing approaches provide powerful tools in the investigation of these patients and may expedite definitive treatments. |*Mutation [MESH] |Agammaglobulinemia/diagnosis/etiology [MESH] |Biopsy [MESH] |Child, Preschool [MESH] |Common Variable Immunodeficiency/complications/diagnosis/*genetics [MESH] |DNA Mutational Analysis [MESH] |Fatal Outcome [MESH] |Female [MESH] |Homeodomain Proteins/*genetics [MESH] |Humans [MESH] |Immunohistochemistry [MESH] |Lung Diseases, Interstitial/diagnosis/etiology [MESH] |Lymphopenia/diagnosis/etiology [MESH] |Tomography, X-Ray Computed [MESH]Identification of patients with RAG mutations previously diagnosed wit(epmc).pdf DeepDyve Pubget Overpricing