Works matching AU Somech, Raz

Results: 93

EP10. Severe Lymphonodular hyperplasia and IBD-like Phenotype due to an Activating PIK3CD Mutation.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2017, v. 65, p. S11

By:

Faraci, Simona;
Vardi, Ido;
Rea, Francesca;
Konnikova, Liza;
Romeo, Erminia;
Barel, Ortal;
De Angelis, Paola;
Dall'Oglio, Luigi;
Rechavi, Gideon;
Snapper, Scott;
Somech, Raz;
Weiss, Batia;
Cancrini, Caterina;
Shouval, Dror

Publication type:

Article

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.

Published in:

2016

By:

Weiss, Batia;
Krauthammer, Alexander;
Soudack, Michalle;
Lahad, Avishay;
Sarouk, Ifat;
Somech, Raz;
Heimer, Gali;
Ben-Zeev, Bruria;
Nissenkorn, Andreea

Publication type:

journal article

Trough Concentrations of Specific Antibodies in Primary Immunodeficiency Patients Receiving Intravenous Immunoglobulin Replacement Therapy.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 592, doi. 10.3390/jcm10040592

By:

Hassin, Ori;
Abu Freih, Yahya;
Hazan, Ran;
Lev, Atar;
Zrihen, Keren S.;
Somech, Raz;
Broides, Arnon;
Nahum, Amit;
Thai, To-Ha;
Chewning, Joseph

Publication type:

Article

SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients.

Published in:

Frontiers in Immunology, 2023, v. 14, p. 01, doi. 10.3389/fimmu.2023.1156823

By:

Raphael, Allon;
Shamriz, Oded;
Tvito, Ariella;
Magen, Sophie;
Goldberg, Shmuel;
Megged, Orli;
Lev, Atar;
Simon, Amos J.;
Tal, Yuval;
Somech, Raz;
Eisenberg, Rachel;
Toker, Ori

Publication type:

Article

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Published in:

Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0349-y

By:

Tirosh, Irit;
Spielman, Shiri;
Barel, Ortal;
Ram, Reut;
Stauber, Tali;
Paret, Gideon;
Rubinsthein, Marina;
Pessach, Itai M.;
Gerstein, Maya;
Anikster, Yair;
Shukrun, Rachel;
Dagan, Adi;
Adler, Katerina;
Pode-Shakked, Ben;
Volkov, Alexander;
Perelman, Marina;
Greenberger, Shoshana;
Somech, Raz;
Lahav, Einat;
Majmundar, Amar J.

Publication type:

Article

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.

Published in:

American Journal of Hematology, 2017, v. 92, n. 1, p. 28, doi. 10.1002/ajh.24573

By:

Wolach, Baruch;
Gavrieli, Ronit;
de Boer, Martin;
van Leeuwen, Karin;
Berger-Achituv, Sivan;
Stauber, Tal;
Ben Ari, Josef;
Rottem, Menachem;
Schlesinger, Yechiel;
Grisaru-Soen, Galia;
Abuzaitoun, Omar;
Marcus, Nufar;
Zion Garty, Ben;
Broides, Arnon;
Levy, Jakov;
Stepansky, Polina;
Etzioni, Amos;
Somech, Raz;
Roos, Dirk

Publication type:

Article

A Call to Include Severe Combined Immunodeficiency in Newborn Screening Program.

Published in:

Rambam Maimonides Medical Journal, 2014, v. 5, n. 1, p. 1, doi. 10.5041/RMMJ.10135

By:

Somech, Raz;
Etzioni, Amos

Publication type:

Article

Perspective - Was it All for Nothing?

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01713-w

By:

Somech, Raz

Publication type:

Article

Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01614-4

By:

Keller, Baerbel;
Kfir-Erenfeld, Shlomit;
Matusewicz, Paul;
Hartl, Frederike;
Lev, Atar;
Lee, Yu Nee;
Simon, Amos J.;
Stauber, Tali;
Elpeleg, Orly;
Somech, Raz;
Stepensky, Polina;
Minguet, Susana;
Schraven, Burkhart;
Warnatz, Klaus

Publication type:

Article

Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 7, p. 1603, doi. 10.1007/s10875-023-01535-2

By:

Jacoby, Elad;
Adam, Etai;
Hutt, Daphna;
Somech, Raz;
Malkiel, Sarah;
Toren, Amos;
Bielorai, Bella

Publication type:

Article

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.

Published in:

2020

By:

Goldberg, Lior;
Simon, Amos J.;
Rechavi, Gideon;
Lev, Atar;
Barel, Ortal;
Kunik, Vered;
Toren, Amos;
Schiby, Ginette;
Tamary, Hannah;
Steinberg‐Shemer, Orna;
Somech, Raz;
Steinberg-Shemer, Orna

Publication type:

journal article

Quantification of specific T and B cells immunological markers in children with chronic and transient ITP.

Published in:

2017

By:

Levy‐Mendelovich, Sarina;
Lev, Atar;
Aviner, Shraga;
Rosenberg, Nurit;
Kaplinsky, Caim;
Sharon, Nechama;
Miskin, Hagit;
Dvir, Aviya;
Kenet, Gili;
Schushan, Irit Eisen;
Somech, Raz

Publication type:

journal article

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.

Published in:

2018

By:

Krauthammer, Alexander;
Lahad, Avishay;
Goldberg, Lior;
Sarouk, Ifat;
Weiss, Batia;
Somech, Raz;
Soudack, Michalle;
Pessach, Itai M.

Publication type:

journal article

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.

Published in:

Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01448

By:

Rechavi, Erez;
Lev, Atar;
Simon, Amos J.;
Stauber, Tali;
Daas, Suha;
Saraf-Levy, Talia;
Broides, Arnon;
Nahum, Amit;
Marcus, Nufar;
Hanna, Suhair;
Stepensky, Polina;
Toker, Ori;
Dalal, Ilan;
Etzioni, Amos;
Almashanu, Shlomo;
Somech, Raz

Publication type:

Article

Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1997, doi. 10.1007/s00431-022-04397-9

By:

Shamriz, Oded;
Simon, Amos J.;
Frizinsky, Shirley;
Lev, Atar;
Megged, Orli;
Barel, Ortal;
Marcus, Nufar;
Tal, Yuval;
Somech, Raz;
Toker, Ori

Publication type:

Article

Epidemiologic, Socioeconomic, and Clinical Factors Associated with Severity of Respiratory Syncytial Virus Infection in Previously Healthy Infants.

Published in:

Clinical Pediatrics, 2006, v. 45, n. 7, p. 621, doi. 10.1177/0009922806291012

By:

Somech, Raz;
Tal, Guy;
Gilad, Eli;
Mandelberg, Avigdor;
Tal, Asher;
Dalal, Ilan

Publication type:

Article

Thymic involution, a co-morbidity factor in amyotrophic lateral sclerosis.

Published in:

Journal of Cellular & Molecular Medicine, 2010, v. 14, n. 10, p. 2470, doi. 10.1111/j.1582-4934.2009.00863.x

By:

Seksenyan, Akop;
Ron-Harel, Noga;
Azoulay, David;
Cahalon, Liora;
Cardon, Michal;
Rogeri, Patricia;
Ko, Minhee K.;
Weil, Miguel;
Bulvik, Shlomo;
Rechavi, Gideon;
Amariglio, Ninette;
Konen, Eli;
Koronyo-Hamaoui, Maya;
Somech, Raz;
Schwartz, Michal

Publication type:

Article

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.

Published in:

2018

By:

Vardi, Iddo;
Barel, Ortal;
Sperber, Michal;
Schvimer, Michael;
Nunberg, Moran;
Field, Michael;
Ouahed, Jodie;
Marek-Yagel, Dina;
Werner, Lael;
Haberman, Yael;
Lahad, Avishay;
Anikster, Yair;
Rechavi, Gideon;
Barshack, Iris;
McElwee, Joshua J.;
Maranville, Joseph;
Somech, Raz;
Snapper, Scott B.;
Weiss, Batia;
Shouval, Dror S.

Publication type:

journal article

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8200, doi. 10.3390/ijms21218200

By:

van Rijn, Jorik M.;
Werner, Lael;
Aydemir, Yusuf;
Spronck, Joey M.A.;
Pode-Shakked, Ben;
van Hoesel, Marliek;
Shimshoni, Elee;
Polak-Charcon, Sylvie;
Talmi, Liron;
Eren, Makbule;
Weiss, Batia;
H.J. Houwen, Roderick;
Barshack, Iris;
Somech, Raz;
Nieuwenhuis, Edward E.S.;
Sagi, Irit;
Raas-Rothschild, Annick;
Middendorp, Sabine;
Shouval, Dror S.

Publication type:

Article

New Instrument for the Evaluation of Prodromes and Attacks of Hereditary Angioedema (HAE-EPA).

Published in:

Clinical Reviews in Allergy & Immunology, 2021, v. 61, n. 1, p. 29, doi. 10.1007/s12016-021-08843-8

By:

Leibovich-Nassi, Iris;
Golander, Hava;
Somech, Raz;
Har-Even, Dov;
Reshef, Avner

Publication type:

Article

Reversible airway obstruction in children with ataxia telangiectasia.

Published in:

Pediatric Pulmonology, 2010, v. 45, n. 3, p. 230, doi. 10.1002/ppul.21095

By:

Berkun, Yackov;
Vilozni, Daphna;
Levi, Yonit;
Borik, Sheron;
Waldman, Dalia;
Somech, Raz;
Nissenkorn, Andreea;
Efrati, Ori

Publication type:

Article

Focal nodular hyperplasia in children.

Published in:

2001

By:

Somech, Raz;
Brazowski, Eli;
Kesller, Ada;
Weiss, Batia;
Getin, Elena;
Lerner, Aaron;
Rief, Shimon;
Somech, R;
Brazowski, E;
Kesller, A;
Weiss, B;
Getin, E;
Lerner, A;
Rief, S

Publication type:

journal article

Granulomatosis cheilitis and Crohn disease.

Published in:

2001

By:

Somech, Raz;
Harel, Avikam;
Rotshtein, Michael S.;
Brazowski, Eli;
Reif, Shimon;
Somech, R;
Harel, A;
Rotshtein, M S;
Brazowski, E;
Reif, S

Publication type:

journal article

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.

Published in:

Immunological Investigations, 2019, v. 48, n. 4, p. 431, doi. 10.1080/08820139.2019.1567533

By:

Mandola, Amarilla B.;
Levy, Jacov;
Nahum, Amit;
Hadad, Nurit;
Levy, Rachel;
Rylova, Anna;
Simon, Amos J.;
Lev, Atar;
Somech, Raz;
Broides, Arnon

Publication type:

Article

Clinical characteristics of children with 2009 pandemic H1N1 influenza virus infections.

Published in:

Pediatrics International, 2011, v. 53, n. 4, p. 426, doi. 10.1111/j.1442-200X.2010.03271.x

By:

Dubnov-Raz, Gal;
Somech, Raz;
Warschawski, Yaniv;
Eisenberg, Gilad;
Bujanover, Yoram

Publication type:

Article

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development.

Published in:

Science Translational Medicine, 2015, v. 7, n. 276, p. 1, doi. 10.1126/scitranslmed.aaa0072

By:

Rechavi, Erez;
Lev, Atar;
Yu Nee Lee;
Simon, Amos J.;
Yinon, Yoav;
Lipitz, Schlomo;
Amariglio, Ninette;
Weisz, Boaz;
Notarangelo, Luigi D.;
Somech, Raz

Publication type:

Article

Prodromes as predictors of hereditary angioedema attacks.

Published in:

Allergy, 2022, v. 77, n. 4, p. 1309, doi. 10.1111/all.15215

By:

Leibovich‐Nassi, Iris;
Reshef, Avner;
Somech, Raz;
Golander, Hava

Publication type:

Article

Characterizing T Cells in SCID Patients Presenting with Reactive or Residual T Lymphocytes.

Published in:

Clinical & Developmental Immunology, 2012, p. 1, doi. 10.1155/2012/261470

By:

Lev, Atar;
Simon, Amos J.;
Trakhtenbrot, Luba;
Goldstein, Itamar;
Nagar, Meital;
Stepensky, Polina;
Rechavi, Gideon;
Amariglio, Ninette;
Somech, Raz

Publication type:

Article

Developing and validating a Global Trigger Tool for assessing frequency, level of harm, and preventability of adverse drug events in pediatric inpatients units.

Published in:

International Journal for Quality in Health Care, 2025, v. 37, n. 1, p. 1, doi. 10.1093/intqhc/mzaf015

By:

Gutkind, Amit;
Toren, Amos;
Somech, Raz;
Bezalel, Yael;
Loebstein, Ronen;
Edden, Yair;
Oberman, Bernice;
Zimlichman, Eyal

Publication type:

Article

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐function.

Published in:

Clinical & Experimental Immunology, 2021, v. 206, n. 1, p. 56, doi. 10.1111/cei.13636

By:

Shamriz, Oded;
Lev, Atar;
Simon, Amos J;
Barel, Ortal;
Javasky, Elisheva;
Matza‐Porges, Sigal;
Shaulov, Adir;
Davidovics, Zev;
Toker, Ori;
Somech, Raz;
Zlotogorski, Abraham;
Molho‐Pessach, Vered;
Tal, Yuval

Publication type:

Article

Matrix Metalloproteinases 2 and 9 Are Markers of Inflammation but Not of the Degree of Fibrosis in Chronic Hepatitis C.

Published in:

Digestion, 2005, v. 71, n. 2, p. 124, doi. 10.1159/000084626

By:

Reif, Shimon;
Somech, Raz;
Brazovski, Eli;
Reich, Reuven;
Belson, Amir;
Konikoff, Fred M.;
Kessler, Ada

Publication type:

Article

Hypoparathyroidism and central diabetes insipidus: in search of the link.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1731, doi. 10.1007/s00431-014-2448-6

By:

Eyal, Ori;
Oren, Asaf;
Jüppner, Harald;
Somech, Raz;
Bellis, Annamaria;
Mannstadt, Michael;
Szalat, Auryan;
Bleiberg, Margalit;
Weisman, Yosef;
Weintrob, Naomi

Publication type:

Article

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39272-0

By:

Nunes-Santos, Cristiane J.;
Kuehn, HyeSun;
Boast, Brigette;
Hwang, SuJin;
Kuhns, Douglas B.;
Stoddard, Jennifer;
Niemela, Julie E.;
Fink, Danielle L.;
Pittaluga, Stefania;
Abu-Asab, Mones;
Davies, John S.;
Barr, Valarie A.;
Kawai, Tomoki;
Delmonte, Ottavia M.;
Bosticardo, Marita;
Garofalo, Mary;
Carneiro-Sampaio, Magda;
Somech, Raz;
Gharagozlou, Mohammad;
Parvaneh, Nima

Publication type:

Article

Evolution of Gene Therapy for Inborn Errors of Immunity.

Published in:

2024

By:

Somekh, Ido;
Hendel, Ayal;
Somech, Raz

Publication type:

Opinion

SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 625, doi. 10.1007/s10875-022-01412-4

By:

Lev, Atar;
Asleh, Mahdi;
Levy, Shiran;
Lee, Yu Nee;
Simon, Amos J.;
Stepensky, Polina;
Nalbandyan, Karen;
Nahum, Amit;
Ben-Harosh, Miriam;
Yablonski, Deborah;
Broides, Arnon;
Somech, Raz

Publication type:

Article

Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 109, doi. 10.1007/s10875-022-01349-8

By:

Palevski, Dahlia;
Simon, Amos;
Lev, Atar;
Somech, Raz;
Lee, Yu Nee

Publication type:

Article

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1508, doi. 10.1007/s10875-022-01352-z

By:

Bousfiha, Aziz;
Moundir, Abderrahmane;
Tangye, Stuart G.;
Picard, Capucine;
Jeddane, Leïla;
Al-Herz, Waleed;
Rundles, Charlotte C.;
Franco, Jose Luis;
Holland, Steven M.;
Klein, Christoph;
Morio, Tomohiro;
Oksenhendler, Eric;
Puel, Anne;
Puck, Jennifer;
Seppänen, Mikko R. J.;
Somech, Raz;
Su, Helen C.;
Sullivan, Kathleen E.;
Torgerson, Troy R.;
Meyts, Isabelle

Publication type:

Article

Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.

Published in:

Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1473, doi. 10.1007/s10875-022-01289-3

By:

Tangye, Stuart G.;
Al-Herz, Waleed;
Bousfiha, Aziz;
Cunningham-Rundles, Charlotte;
Franco, Jose Luis;
Holland, Steven M.;
Klein, Christoph;
Morio, Tomohiro;
Oksenhendler, Eric;
Picard, Capucine;
Puel, Anne;
Puck, Jennifer;
Seppänen, Mikko R. J.;
Somech, Raz;
Su, Helen C.;
Sullivan, Kathleen E.;
Torgerson, Troy R.;
Meyts, Isabelle

Publication type:

Article

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 666, doi. 10.1007/s10875-021-00980-1

By:

Tangye, Stuart G.;
Al-Herz, Waleed;
Bousfiha, Aziz;
Cunningham-Rundles, Charlotte;
Franco, Jose Luis;
Holland, Steven M;
Klein, Christoph;
Morio, Tomohiro;
Oksenhendler, Eric;
Picard, Capucine;
Puel, Anne;
Puck, Jennifer;
Seppänen, Mikko R. J.;
Somech, Raz;
Su, Helen C;
Sullivan, Kathleen E.;
Torgerson, Troy R.;
Meyts, Isabelle

Publication type:

Article

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 1010, doi. 10.1007/s10875-020-00829-z

By:

Ziv, Alma;
Werner, Lael;
Konnikova, Liza;
Awad, Aya;
Jeske, Tim;
Hastreiter, Maximilian;
Mitsialis, Vanessa;
Stauber, Tali;
Wall, Sarah;
Kotlarz, Daniel;
Klein, Christoph;
Snapper, Scott B;
Tzfati, Yehuda;
Weiss, Batia;
Somech, Raz;
Shouval, Dror S.

Publication type:

Article

A Large Cohort of RAG1/2-Deficient SCID Patients—Clinical, Immunological, and Prognostic Analysis.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 1, p. 211, doi. 10.1007/s10875-019-00717-1

By:

Greenberg-Kushnir, Noa;
Lee, Yu Nee;
Simon, Amos J.;
Lev, Atar;
Marcus, Nufar;
Abuzaitoun, Omar;
Somech, Raz;
Stauber, Tali

Publication type:

Article

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire.

Published in:

Journal of Clinical Immunology, 2019, v. 39, n. 4, p. 401, doi. 10.1007/s10875-019-00629-0

By:

Frizinsky, Shirly;
Rechavi, Erez;
Barel, Ortal;
Najeeb, Rose H.;
Greenberger, Shoshana;
Lee, Yu Nee;
Simon, Amos J.;
Lev, Atar;
Ma, Chi A.;
Sun, Guangping;
Blackstone, Sarah A.;
Milner, Joshua D.;
Somech, Raz;
Stauber, Tali

Publication type:

Article

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

Published in:

2018

By:

Somekh, Ido;
Marquardt, Benjamin;
Liu, Yanshan;
Rohlfs, Meino;
Hollizeck, Sebastian;
Karakukcu, Musa;
Unal, Ekrem;
Yilmaz, Ebru;
Patiroglu, Turkan;
Cansever, Murat;
Frizinsky, Shirly;
Vishnvenskia-Dai, Vicktoria;
Rechavi, Erez;
Stauber, Tali;
Simon, Amos J.;
Lev, Atar;
Klein, Christoph;
Kotlarz, Daniel;
Somech, Raz

Publication type:

Correction Notice

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 6, p. 699, doi. 10.1007/s10875-018-0533-8

By:

Somekh, Ido;
Marquardt, Benjamin;
Liu, Yanshan;
Rohlfs, Meino;
Hollizeck, Sebastian;
Karakukcu, Musa;
Unal, Ekrem;
Yilmaz, Ebru;
Patiroglu, Turkan;
Cansever, Murat;
Frizinsky, Shirly;
Vishnvenska-Dai, Vicktoria;
Rechavi, Erez;
Stauber, Tali;
Simon, Amos J.;
Lev, Atar;
Klein, Christoph;
Kotlarz, Daniel;
Somech, Raz

Publication type:

Article

T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 4, p. 527, doi. 10.1007/s10875-018-0514-y

By:

Stepensky, Polina;
Keller, Baerbel;
Shamriz, Oded;
von Spee-Mayer, Caroline;
Friedmann, David;
Shadur, Bella;
Unger, Susanne;
Fuchs, Sebastian;
NaserEddin, Adeeb;
Rumman, Nisreen;
Amro, Sara;
Molho Pessach, Vered;
Abuzaitoun, Omar;
Somech, Raz;
Elpeleg, Orly;
Ehl, Stephan;
Warnatz, Klaus

Publication type:

Article

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 2, p. 193, doi. 10.1007/s10875-018-0475-1

By:

Wolach, Baruch;
Gavrieli, Ronit;
de Boer, Martin;
van Leeuwen, Karin;
Wolach, Ofir;
Grisaru-Soen, Galia;
Broides, Arnon;
Etzioni, Amos;
Somech, Raz;
Roos, Dirk

Publication type:

Article

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Published in:

Journal of Clinical Immunology, 2016, v. 36, n. 8, p. 801, doi. 10.1007/s10875-016-0340-z

By:

Rechavi, Erez;
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T-Cell Compartment in Synovial Fluid of Pediatric Patients with JIA Correlates with Disease Phenotype.

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