Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 77

1.

Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options.

Barcenas-Morales G, Cortes-Acevedo P, Doffinger R.

Curr Opin Infect Dis. 2019 Jun 10. doi: 10.1097/QCO.0000000000000561. [Epub ahead of print]

PMID:
31116133
2.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ.

J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30.

PMID:
31040185
3.

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.

4.

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.

5.

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.

Sng CCT, O'Byrne S, Prigozhin DM, Bauer MR, Harvey JC, Ruhle M, Challis BG, Lear S, Roberts LD, Workman S, Janowitz T, Magiera L, Doffinger R, Buckland MS, Jodrell DJ, Semple RK, Wilson TJ, Modis Y, Thaventhiran JED.

J Allergy Clin Immunol. 2018 Jul;142(1):311-314.e6. doi: 10.1016/j.jaci.2018.01.048. Epub 2018 Mar 6. No abstract available.

6.

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
7.

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases.

Savic S, Mistry A, Wilson AG, Barcenas-Morales G, Doffinger R, Emery P, McGonagle D.

RMD Open. 2017 Nov 1;3(2):e000550. doi: 10.1136/rmdopen-2017-000550. eCollection 2017.

8.

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.

Mistry A, Scambler T, Parry D, Wood M, Barcenas-Morales G, Carter C, Doffinger R, Savic S.

Front Immunol. 2017 Nov 6;8:1485. doi: 10.3389/fimmu.2017.01485. eCollection 2017.

9.

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.

Bigley V, Maisuria S, Cytlak U, Jardine L, Care MA, Green K, Gunawan M, Milne P, Dickinson R, Wiscombe S, Parry D, Doffinger R, Laurence A, Fonseca C, Stoevesandt O, Gennery A, Cant A, Tooze R, Simpson AJ, Hambleton S, Savic S, Doody G, Collin M.

J Allergy Clin Immunol. 2018 Jun;141(6):2234-2248. doi: 10.1016/j.jaci.2017.08.044. Epub 2017 Nov 8.

10.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

11.

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.

12.

BCG induced lupus vulgaris: an unexpected adverse event.

Pace Spadaro E, Xuereb Dingli J, Doffinger R, Dinakantha K, Betts A, Pace D.

Arch Dis Child. 2018 Jan;103(1):71-72. doi: 10.1136/archdischild-2016-312338. Epub 2017 Mar 11. No abstract available.

PMID:
28285273
13.

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.

14.

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

Rae W, Gao Y, Eren E, Döffinger R, Marshall B, Williams AP.

Case Reports Immunol. 2016;2016:9165641. Epub 2016 Nov 16.

15.

Anticytokine autoantibodies in infection and inflammation: an update.

Barcenas-Morales G, Jandus P, Döffinger R.

Curr Opin Allergy Clin Immunol. 2016 Dec;16(6):523-529. Review.

PMID:
27755185
16.

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

Rae W, Doffinger R, Shelton F, Sproson E, Ismail-Koch H, Lund VJ, Harries PG, Eren E, Salib RJ.

Allergy Rhinol (Providence). 2016 Jan;7(2):102-6. doi: 10.2500/ar.2016.7.0162.

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.

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies.

Gao Y, Rae W, Ramakrishnan KA, Barcenas-Morales G, Döffinger R, Eren E, Faust SN, Ottensmeier CH, Williams AP.

PLoS One. 2016 May 11;11(5):e0155059. doi: 10.1371/journal.pone.0155059. eCollection 2016.

20.

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.

21.

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.

22.

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia.

Ku CL, Lin CH, Chang SW, Chu CC, Chan JF, Kong XF, Lee CH, Rosen EA, Ding JY, Lee WI, Bustamante J, Witte T, Shih HP, Kuo CY, Chetchotisakd P, Kiertiburanakul S, Suputtamongkol Y, Yuen KY, Casanova JL, Holland SM, Doffinger R, Browne SK, Chi CY.

J Allergy Clin Immunol. 2016 Mar;137(3):945-8.e8. doi: 10.1016/j.jaci.2015.09.018. Epub 2015 Oct 29. No abstract available.

PMID:
26522403
23.

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.

24.

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, Doffinger R, Kuusanmäki H, Heiskanen-Kosma T, Trotta L, Chiang S, Kulmala P, Eldfors S, Katainen R, Siitonen S, Karjalainen-Lindsberg ML, Kovanen PE, Otonkoski T, Porkka K, Heiskanen K, Hänninen A, Bryceson YT, Uusitalo-Seppälä R, Saarela J, Seppänen M, Mustjoki S, Kere J.

Blood. 2015 Jan 22;125(4):639-48. doi: 10.1182/blood-2014-04-570101. Epub 2014 Oct 27.

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.

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, Gaspar HB, Nejentsev S.

J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27. No abstract available.

27.

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.

28.

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.

29.

Aberrant disgust responses and immune reactivity in cocaine-dependent men.

Ersche KD, Hagan CC, Smith DG, Abbott S, Jones PS, Apergis-Schoute AM, Döffinger R.

Biol Psychiatry. 2014 Jan 15;75(2):140-7. doi: 10.1016/j.biopsych.2013.08.004. Epub 2013 Oct 3.

30.

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.

31.

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.

32.

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
33.

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.

34.

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.

35.

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K.

J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15.

36.

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.

37.

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.

38.

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88.

He B, Santamaria R, Xu W, Cols M, Chen K, Puga I, Shan M, Xiong H, Bussel JB, Chiu A, Puel A, Reichenbach J, Marodi L, Döffinger R, Vasconcelos J, Issekutz A, Krause J, Davies G, Li X, Grimbacher B, Plebani A, Meffre E, Picard C, Cunningham-Rundles C, Casanova JL, Cerutti A.

Nat Immunol. 2010 Sep;11(9):836-45. doi: 10.1038/ni.1914. Epub 2010 Aug 1.

39.

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.

40.

Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults.

MacLennan CA, Gilchrist JJ, Gordon MA, Cunningham AF, Cobbold M, Goodall M, Kingsley RA, van Oosterhout JJ, Msefula CL, Mandala WL, Leyton DL, Marshall JL, Gondwe EN, Bobat S, López-Macías C, Doffinger R, Henderson IR, Zijlstra EE, Dougan G, Drayson MT, MacLennan IC, Molyneux ME.

Science. 2010 Apr 23;328(5977):508-12. doi: 10.1126/science.1180346.

41.

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.

42.

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
43.

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
44.

Recurrent mycobacterial infections in a patient with IL-12 deficiency.

Buckland M, Ali R, Bothamley G, Lammas D, Doffinger R, Longhurst H.

BMJ Case Rep. 2009;2009. pii: bcr11.2008.1278. doi: 10.1136/bcr.11.2008.1278. Epub 2009 Dec 1.

45.

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.

46.

Genetically determined susceptibility to mycobacterial infection.

Patel SY, Doffinger R, Barcenas-Morales G, Kumararatne DS.

J Clin Pathol. 2008 Sep;61(9):1006-12. doi: 10.1136/jcp.2007.051201. Epub 2008 Mar 6. Review.

PMID:
18326015
47.

The effect of sirolimus therapy on vaccine responses in transplant recipients.

Willcocks LC, Chaudhry AN, Smith JC, Ojha S, Doffinger R, Watson CJ, Smith KG.

Am J Transplant. 2007 Aug;7(8):2006-11. Epub 2007 Jun 18.

48.

Disseminated Mycobacterium tuberculosis infection due to interferon gamma deficiency. Response to replacement therapy.

Seneviratne SL, Doffinger R, Macfarlane J, Ceron-Gutierrez L, Amel Kashipaz MR, Robbins A, Patel T, Powell PT, Kumararatne DS, Powell RJ.

Thorax. 2007 Jan;62(1):97-9.

49.

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL.

Am J Hum Genet. 2006 Apr;78(4):691-701. Epub 2006 Feb 15.

50.

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity.

Doffinger R, Patel SY, Kumararatne DS.

Microbes Infect. 2006 Apr;8(4):1141-50. Epub 2006 Jan 19. Review.

PMID:
16520078

Supplemental Content

Loading ...
Support Center