Search Results - "Junker, Anne K"

Combined immunodeficiency associated with homozygous MALT1 mutations by McKinnon, Margaret L., MD, Rozmus, Jacob, MD, Fung, Shan-Yu, PhD, Hirschfeld, Aaron F., MSc, Del Bel, Kate L., MSc, Thomas, Leah, BSc, Marr, Nico, Dr rer nat, Martin, Spencer D., BSc, Marwaha, Ashish K., BM, BCh, Priatel, John J., PhD, Tan, Rusung, MD, PhD, Senger, Christof, MD, Tsang, Angela, BSc, Prendiville, Julie, MD, Junker, Anne K., MD, Seear, Michael, MB, ChB, Schultz, Kirk R., MD, Sly, Laura M., PhD, Holt, Robert A., PhD, Patel, Millan S., MD, MSc, Friedman, Jan M., MD, PhD, Turvey, Stuart E., MBBS, DPhil

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Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report by Blanchard-Rohner, Geraldine, Ragotte, Robert J, Junker, Anne K, Sharma, Mehul, Del Bel, Kate L, Lu, Henry Y, Erdle, Stephanie, Chomyn, Alanna, Gill, Harinder, Tucker, Lori B, Schreiber, Richard A, Rozmus, Jacob, Biggs, Catherine M, Hildebrand, Kyla J, Wu, John, Stockler-Ipsiroglu, Sylvia, Turvey, Stuart E

“…KRAS (KRAS proto-oncogene, GTPase; OMIM: 190,070) encodes one of three small guanosine triphosphatase proteins belonging to the RAS family. This group of…”
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Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application? by Friedman, Jan M., Bombard, Yvonne, Cornel, Martina C., Fernandez, Conrad V., Junker, Anne K., Plon, Sharon E., Stark, Zornitza, Knoppers, Bartha Maria

“…Diagnostic genome-wide sequencing (exome or genome sequencing and data analysis for high-penetrance disease-causing variants) in acutely ill infants appears to…”
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JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome by Del Bel, Kate L., MSc, Ragotte, Robert J., BSc, Saferali, Aabida, MSc, Lee, Susan, RN, Vercauteren, Suzanne M., MD PhD, Mostafavi, Sara A., PhD, Schreiber, Richard A., MD, Prendiville, Julie S., MD, Phang, Min S., MD, Halperin, Jess, MD, Au, Nicholas, MD, Dean, John M., MD BS, Jewels, Emily, RN, Junker, Anne K., MD, Rogers, Paul C., MB ChB MBA, Seear, Michael, MB ChB, McKinnon, Margaret L., MD, Turvey, Stuart E., MB BS, DPhil

“…Germline JAK1 gain-of-function mutations cause autosomal dominant immune dysregulation and hypereosinophilia with eosinophilic infiltration of the…”
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Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing by Branch, Anna, Modi, Bhavi, Bahrani, Bahar, Hildebrand, Kyla J., Cameron, Scott B., Junker, Anne K., Turvey, Stuart E., Biggs, Catherine M., Candotti, Fabio

“…Background Inborn errors of immunity (IEIs) are a group of conditions affecting immune system development and function. Due to their clinical heterogeneity and…”
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Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency by Grazioli, Serge, Bennett, Mary, Hildebrand, Kyla J, Vallance, Hilary, Turvey, Stuart E, Junker, Anne K

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Optimizing outcomes of hematopoietic stem cell transplantation for severe combined immunodeficiency by Cuvelier, Geoff D.E, Schultz, Kirk R, Davis, Jeff, Hirschfeld, Aaron F, Junker, Anne K, Tan, Rusung, Turvey, Stuart E

“…Abstract This FOCIS Centers of Excellence Short Analytical Review is based on the clinical vignette of two boys from the same family with very different…”
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IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae by Grazioli, Serge, Hamilton, Sara J, McKinnon, Margaret L, Del Bel, Kate L, Hoang, Linda, Cook, Victoria E, Hildebrand, Kyla J, Junker, Anne K, Turvey, Stuart E

“…Abstract In this Letter to the Editor we report the case of two siblings with fatal pneumococcal meningitis as the initial manifestation of IRAK-4 deficiency…”
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Human primary immunodeficiencies causing defects in innate immunity by Wong, Tiffany, Yeung, Joanne, Hildebrand, Kyla J, Junker, Anne K, Turvey, Stuart E

“…PURPOSE OF REVIEWThere have been exciting recent advances in identifying new mutations that cause human primary immunodeficiencies which impact innate immune…”
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Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review by Alfadhel, Majid, Lillquist, Yolanda P., Davis, Cynthia, Junker, Anne K., Stockler‐Ipsiroglu, Sylvia

“…Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash,…”
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The challenge of periodic fevers in children by Dancey, Paul, Benseler, Susanne, Junker, Anne K, Laxer, Ronald M, Miettunen, Paivi Mh, Turner, Lesley Ann, Gattorno, Marco

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Epstein-Barr Virus by Junker, Anne K

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Recurrent varicella-zoster virus infections in apparently immunocompetent children by Junker, A K, Angus, E, Thomas, E E

“…Fourteen generally healthy children (5 females, 9 males, ages 18 months to 13 years) who have developed 2 to 5 attacks of chickenpox are described. Herpes…”
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Epstein-Barr virus by Junker, Anne K

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How to flee the flu by Junker, Anne K, Bonilla, Francisco A, Sullivan, Kathleen E

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Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency by Cohen, Lindsay, Hirschfeld, Aaron F, Junker, Anne K, Davis, Jeff, Turvey, Stuart E

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A40: Periodic Fever Syndromes in Canada: Results from a National Surveillance Program by Dancey, Paul, Benseler, Susann, Gattorno, Marco, Junker, Anne K, Laxer, Ronald M., Miettunen, Paivi, Turner, Lesley Ann

“…Background/Purpose: To estimate the incidence of periodic fever syndromes in the Canadian paediatric population, to describe the patterns of presentation, and…”
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Unilateral pneumonia in an infant by Junker, A K

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Combined immunodeficiency associated with homozygousMALT1mutations by McKinnon, Margaret L, Rozmus, Jacob, Fung, Shan-Yu, Hirschfeld, Aaron F, Del Bel, Kate L, Thomas, Leah, Marr, Nico, Martin, Spencer D, Marwaha, Ashish K, Priatel, John J, Tan, Rusung, Senger, Christof, Tsang, Angela, Prendiville, Julie, Junker, Anne K, Seear, Michael, Schultz, Kirk R, Sly, Laura M, Holt, Robert A, Patel, Millan S, Friedman, Jan M, Turvey, Stuart E

“…Humoral immunity was characterized by chronically elevated serum IgE (maximum, 9856 IU/mL; reference range, <200 IU/mL) with normal serum IgG, IgA, and IgM…”
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Immune responses after ganciclovir and immunoglobulin therapy of infants by Junker, A K, Matheson, D, Tingle, A J, Thomas, E E

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