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Items: 1 to 50 of 141

1.

A First Unexplained Invasive Encapsulated Bacterial Infection in Young Adults is Associated with High Mortality and Readmission Rates.

Jackson N, Sutton T, Bedford L, Ugrinovic S, Kumararatne D, Gkrania-Klotsas E.

Clin Infect Dis. 2019 Jun 3. pii: ciz470. doi: 10.1093/cid/ciz470. [Epub ahead of print]

PMID:
31157862
2.

Liver disease is common in patients with common variable immunodeficiency and predicts mortality in the presence of cirrhosis or portal hypertension.

Azzu V, Fonseca M, Duckworth A, Kennard L, Moini N, Qurashi M, Brais R, Davies S, Manson A, Staples E, Kumararatne DS, Griffiths WJH.

J Allergy Clin Immunol Pract. 2019 Apr 24. pii: S2213-2198(19)30389-7. doi: 10.1016/j.jaip.2019.04.016. [Epub ahead of print] No abstract available.

PMID:
31026542
3.

Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

Schütz K, Alecsandru D, Grimbacher B, Haddock J, Bruining A, Driessen G, de Vries E, van Hagen PM, Hartmann I, Fraioli F, Milito C, Mitrevski M, Quinti I, Serra G, Kelleher P, Loebinger M, Litzman J, Postranecka V, Thon V, Babar J, Condliffe AM, Exley A, Kumararatne D, Screaton N, Jones A, Bondioni MP, Lougaris V, Plebani A, Soresina A, Sirignano C, Spadaro G, Galal N, Gonzalez-Granado LI, Dettmer S, Stirling R, Chapel H, Lucas M, Patel S, Farber CM, Meyts I, Banerjee AK, Hackett S, Hurst JR, Warnatz K, Gathmann B, Weidemann J, Berthold D, Baumann U; Chest CT in Antibody Deficiency Group.

J Clin Immunol. 2019 Feb;39(2):225-227. doi: 10.1007/s10875-019-00609-4.

PMID:
30905051
4.

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.

Neves JF, Doffinger R, Barcena-Morales G, Martins C, Papapietro O, Plagnol V, Curtis J, Martins M, Kumararatne D, Cordeiro AI, Neves C, Borrego LM, Katan M, Nejentsev S.

Front Immunol. 2018 Dec 14;9:2863. doi: 10.3389/fimmu.2018.02863. eCollection 2018.

5.

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

Schütz K, Alecsandru D, Grimbacher B, Haddock J, Bruining A, Driessen G, de Vries E, van Hagen PM, Hartmann I, Fraioli F, Milito C, Mitrevski M, Quinti I, Serra G, Kelleher P, Loebinger M, Litzman J, Postranecka V, Thon V, Babar J, Condliffe AM, Exley A, Kumararatne D, Screaton N, Jones A, Bondioni MP, Lougaris V, Plebani A, Soresina A, Sirignano C, Spadaro G, Galal N, Gonzalez-Granado LI, Dettmer S, Stirling R, Chapel H, Lucas M, Patel S, Farber CM, Meyts I, Banerjee AK, Hackett S, Hurst JR, Warnatz K, Gathmann B, Baumann U; Chest CT in Antibody Deficiency Group.

J Clin Immunol. 2019 Jan;39(1):45-54. doi: 10.1007/s10875-018-0577-9. Epub 2018 Dec 13. Erratum in: J Clin Immunol. 2019 Feb;39(2):225-227.

PMID:
30547383
6.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

7.

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.

Cuchet-Lourenço D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S.

Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19.

8.

The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017.

Shillitoe B, Bangs C, Guzman D, Gennery AR, Longhurst HJ, Slatter M, Edgar DM, Thomas M, Worth A, Huissoon A, Arkwright PD, Jolles S, Bourne H, Alachkar H, Savic S, Kumararatne DS, Patel S, Baxendale H, Noorani S, Yong PFK, Waruiru C, Pavaladurai V, Kelleher P, Herriot R, Bernatonienne J, Bhole M, Steele C, Hayman G, Richter A, Gompels M, Chopra C, Garcez T, Buckland M.

Clin Exp Immunol. 2018 Jun;192(3):284-291. doi: 10.1111/cei.13125.

9.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

10.

Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK and Republic of Ireland.

Edgar JDM, Richter AG, Huissoon AP, Kumararatne DS, Baxendale HE, Bethune CA, Garcez T, Misbah SA, Sorensen RU; United Kingdom Primary Immunodeficiency Network (UKPIN) Immunoglobulin Decision to Treat Study Group.

J Clin Immunol. 2018 Feb;38(2):204-213. doi: 10.1007/s10875-017-0469-4. Epub 2018 Feb 8.

11.

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Ramakrishnan KA, Rae W, Barcenas-Morales G, Gao Y, Pengelly RJ, Patel SV, Kumararatne DS, Ennis S, Döffinger R, Faust SN, Williams AP.

J Allergy Clin Immunol. 2018 Apr;141(4):1479-1482.e6. doi: 10.1016/j.jaci.2017.11.014. Epub 2017 Dec 7. No abstract available.

PMID:
29225085
12.

Liver transplantation in adults with liver disease due to common variable immunodeficiency leads to early recurrent disease and poor outcome.

Azzu V, Elias JE, Duckworth A, Davies S, Brais R, Kumararatne DS, Gimson AES, Griffiths WJH.

Liver Transpl. 2018 Feb;24(2):171-181. doi: 10.1002/lt.24979.

13.

Liver disease predicts mortality in patients with X-linked immunodeficiency with hyper-IgM but can be prevented by early hematopoietic stem cell transplantation.

Azzu V, Kennard L, Morillo-Gutierrez B, Slatter M, Edgar JDM, Kumararatne DS, Griffiths WJH.

J Allergy Clin Immunol. 2018 Jan;141(1):405-408.e7. doi: 10.1016/j.jaci.2017.06.036. Epub 2017 Jul 26. No abstract available.

PMID:
28756297
14.

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.

Staples E, Morillo-Gutierrez B, Davies J, Petersheim D, Massaad M, Slatter M, Dimou D, Doffinger R, Hackett S, Kumararatne D, Hadfield J, Eldridge MD, Geha RS, Abinun M, Thaventhiran JED.

J Clin Immunol. 2017 Jul;37(5):415-418. doi: 10.1007/s10875-017-0390-x. Epub 2017 Apr 17. No abstract available.

15.

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.

Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F, Curtis J, Gaspar M, Nowak K, Daza-Cajigal V, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S.

Nat Commun. 2016 Dec 23;7:13992. doi: 10.1038/ncomms13992.

16.

Chronic norovirus infection and common variable immunodeficiency.

Woodward J, Gkrania-Klotsas E, Kumararatne D.

Clin Exp Immunol. 2017 Jun;188(3):363-370. doi: 10.1111/cei.12884. Epub 2016 Nov 16. Review.

17.

Emergence of host-adapted Salmonella Enteritidis through rapid evolution in an immunocompromised host.

Klemm EJ, Gkrania-Klotsas E, Hadfield J, Forbester JL, Harris SR, Hale C, Heath JN, Wileman T, Clare S, Kane L, Goulding D, Otto TD, Kay S, Doffinger R, Cooke FJ, Carmichael A, Lever AM, Parkhill J, MacLennan CA, Kumararatne D, Dougan G, Kingsley RA.

Nat Microbiol. 2016 Jan 25;1:15023. doi: 10.1038/nmicrobiol.2015.23.

PMID:
27572160
18.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

19.

Emergence of host-adapted Salmonella Enteritidis through rapid evolution in an immunocompromised host.

Klemm EJ, Gkrania-Klotsas E, Hadfield J, Forbester JL, Harris SR, Hale C, Heath JN, Wileman T, Clare S, Kane L, Goulding D, Otto TD, Kay S, Doffinger R, Cooke FJ, Carmichael A, Lever AM, Parkhill J, MacLennan CA, Kumararatne D, Dougan G, Kingsley RA.

Nat Microbiol. 2016 Mar;1(3). pii: 15023. doi: 10.1038/nmicrobiol.2015.23. Epub 2016 Jan 25.

20.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B.

J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25.

21.

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.

Chandra A, Zhang F, Gilmour KC, Webster D, Plagnol V, Kumararatne DS, Burns SO, Nejentsev S, Thrasher AJ.

J Allergy Clin Immunol. 2016 Mar;137(3):940-2.e4. doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31. No abstract available.

22.

Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency.

Rosenberg JM, Price JV, Barcenas-Morales G, Ceron-Gutierrez L, Davies S, Kumararatne DS, Döffinger R, Utz PJ.

J Allergy Clin Immunol. 2016 Jan;137(1):204-213.e3. doi: 10.1016/j.jaci.2015.07.032. Epub 2015 Sep 11. Erratum in: J Allergy Clin Immunol. 2016 Jun;137(6):1917.

23.

Familial hepatopulmonary syndrome in common variable immunodeficiency.

Holmes SN, Condliffe A, Griffiths W, Baxendale H, Kumararatne DS.

J Clin Immunol. 2015 Apr;35(3):302-4. doi: 10.1007/s10875-015-0142-8. Epub 2015 Feb 24.

PMID:
25708586
24.

The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency.

Woodward JM, Gkrania-Klotsas E, Cordero-Ng AY, Aravinthan A, Bandoh BN, Liu H, Davies S, Zhang H, Stevenson P, Curran MD, Kumararatne D.

Am J Gastroenterol. 2015 Feb;110(2):320-7. doi: 10.1038/ajg.2014.432. Epub 2015 Jan 27.

PMID:
25623655
25.

Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency.

Senanayake MP, Kumararatne DS, Doffinger R, Barcenas-Morales G.

Paediatr Int Child Health. 2015 Feb;35(1):69-71. doi: 10.1179/2046905514Y.0000000129. Epub 2014 May 27.

PMID:
24863105
26.

Pneumococcal polysaccharide vaccine responses are impaired in a subgroup of children with cystic fibrosis.

Browning MJ, Lim MT, Kenia P, Whittle M, Doffinger R, Barcenas-Morales G, Kumararatne D, Viskaduraki M, O'Callaghan C, Gaillard EA.

J Cyst Fibros. 2014 Dec;13(6):632-8. doi: 10.1016/j.jcf.2014.02.002. Epub 2014 Mar 11.

27.

Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party.

J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28.

PMID:
24582312
28.

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.

Habel A, Herriot R, Kumararatne D, Allgrove J, Baker K, Baxendale H, Bu'Lock F, Firth H, Gennery A, Holland A, Illingworth C, Mercer N, Pannebakker M, Parry A, Roberts A, Tsai-Goodman B.

Eur J Pediatr. 2014 Jun;173(6):757-65. doi: 10.1007/s00431-013-2240-z. Epub 2014 Jan 3.

29.

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sánchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodríguez-Gallego C.

Clin Infect Dis. 2014 Jan;58(2):204-13. doi: 10.1093/cid/cit722. Epub 2013 Nov 1.

30.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

31.

Immune competence after alemtuzumab treatment of multiple sclerosis.

McCarthy CL, Tuohy O, Compston DA, Kumararatne DS, Coles AJ, Jones JL.

Neurology. 2013 Sep 3;81(10):872-6. doi: 10.1212/WNL.0b013e3182a35215. Epub 2013 Aug 7.

32.

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012.

Edgar JD, Buckland M, Guzman D, Conlon NP, Knerr V, Bangs C, Reiser V, Panahloo Z, Workman S, Slatter M, Gennery AR, Davies EG, Allwood Z, Arkwright PD, Helbert M, Longhurst HJ, Grigoriadou S, Devlin LA, Huissoon A, Krishna MT, Hackett S, Kumararatne DS, Condliffe AM, Baxendale H, Henderson K, Bethune C, Symons C, Wood P, Ford K, Patel S, Jain R, Jolles S, El-Shanawany T, Alachkar H, Herwadkar A, Sargur R, Shrimpton A, Hayman G, Abuzakouk M, Spickett G, Darroch CJ, Paulus S, Marshall SE, McDermott EM, Heath PT, Herriot R, Noorani S, Turner M, Khan S, Grimbacher B.

Clin Exp Immunol. 2014 Jan;175(1):68-78. doi: 10.1111/cei.12172.

33.

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Alangari A, Al-Mousa H, Mobaireek KF, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL.

Medicine (Baltimore). 2013 Mar;92(2):109-22. doi: 10.1097/MD.0b013e31828a01f9. Erratum in: Medicine (Baltimore). 2013 May;92(3):190. Alangari, Abdullah A [added]; Mobaireek, Khalid F [added].

34.

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia.

Burns SO, Zenner HL, Plagnol V, Curtis J, Mok K, Eisenhut M, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S.

J Allergy Clin Immunol. 2012 Dec;130(6):1428-32. doi: 10.1016/j.jaci.2012.07.035. Epub 2012 Sep 14. No abstract available.

35.

Use and interpretation of diagnostic vaccination in primary immunodeficiency: a working group report of the Basic and Clinical Immunology Interest Section of the American Academy of Allergy, Asthma & Immunology.

Orange JS, Ballow M, Stiehm ER, Ballas ZK, Chinen J, De La Morena M, Kumararatne D, Harville TO, Hesterberg P, Koleilat M, McGhee S, Perez EE, Raasch J, Scherzer R, Schroeder H, Seroogy C, Huissoon A, Sorensen RU, Katial R.

J Allergy Clin Immunol. 2012 Sep;130(3 Suppl):S1-24. doi: 10.1016/j.jaci.2012.07.002.

PMID:
22935624
36.

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.

Plagnol V, Curtis J, Epstein M, Mok KY, Stebbings E, Grigoriadou S, Wood NW, Hambleton S, Burns SO, Thrasher AJ, Kumararatne D, Doffinger R, Nejentsev S.

Bioinformatics. 2012 Nov 1;28(21):2747-54. doi: 10.1093/bioinformatics/bts526. Epub 2012 Aug 31.

37.

Specific antibody deficiency in children with chronic wet cough.

Lim MT, Jeyarajah K, Jones P, Pandya H, Doffinger R, Kumararatne D, Browning MJ, Gaillard EA.

Arch Dis Child. 2012 May;97(5):478-80. doi: 10.1136/archdischild-2011-300691. Epub 2012 Jan 30.

PMID:
22294669
38.

Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders.

Hampson FA, Chandra A, Screaton NJ, Condliffe A, Kumararatne DS, Exley AR, Babar JL.

Clin Radiol. 2012 Jun;67(6):587-95. doi: 10.1016/j.crad.2011.10.028. Epub 2012 Jan 9. Review.

PMID:
22226567
39.

Vaccine-derived poliomyelitis 12 years after infection.

MacLennan CA, Huissoon AP, Kumararatne DS.

N Engl J Med. 2011 Oct 6;365(14):1355; author reply 1355. doi: 10.1056/NEJMc1108814. No abstract available.

PMID:
21991972
40.

IRF8 mutations and human dendritic-cell immunodeficiency.

Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong XF, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova JL, Gros P.

N Engl J Med. 2011 Jul 14;365(2):127-38. doi: 10.1056/NEJMoa1100066. Epub 2011 Apr 27.

41.

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.

Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M.

J Exp Med. 2011 Feb 14;208(2):227-34. doi: 10.1084/jem.20101459. Epub 2011 Jan 17.

42.

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):403-25. doi: 10.1097/MD.0b013e3181fd8ec3.

43.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

44.

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients.

McDonald DR, Goldman F, Gomez-Duarte OD, Issekutz AC, Kumararatne DS, Doffinger R, Geha RS.

J Allergy Clin Immunol. 2010 Aug;126(2):332-7, 337.e1-2. doi: 10.1016/j.jaci.2010.05.013.

45.

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.

Puel A, Döffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C, Cobat A, Ouachée-Chardin M, Toulon A, Bustamante J, Al-Muhsen S, Al-Owain M, Arkwright PD, Costigan C, McConnell V, Cant AJ, Abinun M, Polak M, Bougnères PF, Kumararatne D, Marodi L, Nahum A, Roifman C, Blanche S, Fischer A, Bodemer C, Abel L, Lilic D, Casanova JL.

J Exp Med. 2010 Feb 15;207(2):291-7. doi: 10.1084/jem.20091983. Epub 2010 Feb 1.

46.

Recurrent and unusual manifestations of tuberculosis in a boy with interleukin 12 receptor defect.

Senanayake MP, Doffinger R, Kumararatne DS.

Ceylon Med J. 2009 Jun;54(2):54-5. No abstract available.

PMID:
19670550
47.

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency.

Bouma G, Doffinger R, Patel SY, Peskett E, Sinclair JC, Barcenas-Morales G, Cerron-Gutierrez L, Kumararatne DS, Davies EG, Thrasher AJ, Burns SO.

Br J Haematol. 2009 Oct;147(1):153-6. doi: 10.1111/j.1365-2141.2009.07838.x. Epub 2009 Aug 5. No abstract available.

PMID:
19663824
48.

Clinical utility of ANA measured by ELISA compared with ANA measured by immunofluorescence.

Maguire GA, Ginawi A, Lee J, Lim AY, Wood G, Houghton S, Kumararatne DS, Gaston HJ.

Rheumatology (Oxford). 2009 Aug;48(8):1013-4. doi: 10.1093/rheumatology/kep137. Epub 2009 Jun 2. No abstract available.

PMID:
19491301
49.

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.

Isnardi I, Ng YS, Srdanovic I, Motaghedi R, Rudchenko S, von Bernuth H, Zhang SY, Puel A, Jouanguy E, Picard C, Garty BZ, Camcioglu Y, Doffinger R, Kumararatne D, Davies G, Gallin JI, Haraguchi S, Day NK, Casanova JL, Meffre E.

Immunity. 2008 Nov 14;29(5):746-57. doi: 10.1016/j.immuni.2008.09.015.

50.

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.

Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B.

Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3.

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