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Items: 1 to 50 of 504

1.

MyD88 signaling in T regulatory cells by endogenous ligands dampens skin inflammation in filaggrin deficient mice.

Hoff S, Oyoshi MK, Hornick JL, Geha RS; NIH/NIAID funded Atopic Dermatitis Research Network.

Clin Immunol. 2018 Aug 9. pii: S1521-6616(18)30473-X. doi: 10.1016/j.clim.2018.08.001. [Epub ahead of print]

PMID:
30099194
2.

Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan.

Qureshi S, Sheikh MDA, Qamar FN, Bainter W, Chou J, Geha RS.

Clin Immunol. 2018 Jul 28. pii: S1521-6616(18)30415-7. doi: 10.1016/j.clim.2018.07.016. [Epub ahead of print]

PMID:
30063982
3.

The Lack of WIP Binding to Actin Results in Impaired B Cell Migration and Altered Humoral Immune Responses.

Keppler SJ, Burbage M, Gasparrini F, Hartjes L, Aggarwal S, Massaad MJ, Geha RS, Bruckbauer A, Batista FD.

Cell Rep. 2018 Jul 17;24(3):619-629. doi: 10.1016/j.celrep.2018.06.051.

4.

IL-22 promotes allergic airway inflammation in epicutaneously sensitized mice.

Leyva-Castillo JM, Yoon J, Geha RS.

J Allergy Clin Immunol. 2018 Jun 18. pii: S0091-6749(18)30856-X. doi: 10.1016/j.jaci.2018.05.032. [Epub ahead of print]

PMID:
29920352
5.

WASP-mediated regulation of anti-inflammatory macrophages is IL-10 dependent and is critical for intestinal homeostasis.

Biswas A, Shouval DS, Griffith A, Goettel JA, Field M, Kang YH, Konnikova L, Janssen E, Redhu NS, Thrasher AJ, Chatila T, Kuchroo VK, Geha RS, Notarangelo LD, Pai SY, Horwitz BH, Snapper SB.

Nat Commun. 2018 May 3;9(1):1779. doi: 10.1038/s41467-018-03670-6.

6.

RORα-expressing T regulatory cells restrain allergic skin inflammation.

Malhotra N, Leyva-Castillo JM, Jadhav U, Barreiro O, Kam C, O'Neill NK, Meylan F, Chambon P, von Andrian UH, Siegel RM, Wang EC, Shivdasani R, Geha RS.

Sci Immunol. 2018 Mar 2;3(21). pii: eaao6923. doi: 10.1126/sciimmunol.aao6923.

PMID:
29500225
7.

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

Lougaris V, Chou J, Baronio M, Gazzurelli L, Lorenzini T, Soresina A, Moratto D, Badolato R, Seleman M, Bellettato M, Geha RS, Plebani A.

Clin Immunol. 2018 Mar;188:20-22. doi: 10.1016/j.clim.2017.11.008. Epub 2017 Nov 21. No abstract available.

PMID:
29170023
8.

Staphylococcus aureus Epicutaneous Exposure Drives Skin Inflammation via IL-36-Mediated T Cell Responses.

Liu H, Archer NK, Dillen CA, Wang Y, Ashbaugh AG, Ortines RV, Kao T, Lee SK, Cai SS, Miller RJ, Marchitto MC, Zhang E, Riggins DP, Plaut RD, Stibitz S, Geha RS, Miller LS.

Cell Host Microbe. 2017 Nov 8;22(5):653-666.e5. doi: 10.1016/j.chom.2017.10.006.

PMID:
29120743
9.

A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations.

Hoyos-Bachiloglu R, Chou J, Sodroski CN, Beano A, Bainter W, Angelova M, Al Idrissi E, Habazi MK, Alghamdi HA, Almanjomi F, Al Shehri M, Elsidig N, Alaa Eldin M, Knipe DM, AlZahrani M, Geha RS.

J Clin Invest. 2017 Dec 1;127(12):4415-4420. doi: 10.1172/JCI93486. Epub 2017 Nov 6.

10.

DOCK8 Deficiency Presenting as an IPEX-Like Disorder.

Alroqi FJ, Charbonnier LM, Keles S, Ghandour F, Mouawad P, Sabouneh R, Mohammed R, Almutairi A, Chou J, Massaad MJ, Geha RS, Baz Z, Chatila TA.

J Clin Immunol. 2017 Nov;37(8):811-819. doi: 10.1007/s10875-017-0451-1. Epub 2017 Oct 23.

PMID:
29058101
11.

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Al-Herz W, Massaad MJ, Chou J, Notarangelo LD, Geha RS.

Clin Immunol. 2018 Feb;187:68-75. doi: 10.1016/j.clim.2017.10.006. Epub 2017 Oct 16.

PMID:
29051008
12.

DOCK8 enforces immunological tolerance by promoting IL-2 signaling and immune synapse formation in Tregs.

Janssen E, Kumari S, Tohme M, Ullas S, Barrera V, Tas JM, Castillo-Rama M, Bronson RT, Usmani SM, Irvine DJ, Mempel TR, Geha RS.

JCI Insight. 2017 Oct 5;2(19). pii: 94298. doi: 10.1172/jci.insight.94298. [Epub ahead of print]

13.

A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis.

Qamar F, Junejo S, Qureshi S, Seleman M, Bainter W, Massaad M, Chou J, Geha RS.

Clin Immunol. 2017 Oct;183:198-200. doi: 10.1016/j.clim.2017.09.007. Epub 2017 Sep 14.

PMID:
28917720
14.

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

Abolhassani H, Chou J, Bainter W, Platt CD, Tavassoli M, Momen T, Tavakol M, Eslamian MH, Gharagozlou M, Movahedi M, Ghadami M, Hamidieh AA, Azizi G, Yazdani R, Afarideh M, Ghajar A, Havaei A, Chavoshzadeh Z, Mahdaviani SA, Cheraghi T, Behniafard N, Amin R, Aleyasin S, Faridhosseini R, Jabbari-Azad F, Nabavi M, Bemanian MH, Arshi S, Molatefi R, Sherkat R, Mansouri M, Mesdaghi M, Babaie D, Mohammadzadeh I, Ghaffari J, Shafiei A, Kalantari N, Ahanchian H, Khoshkhui M, Soheili H, Dabbaghzadeh A, Shirkani A, Nasiri Kalmarzi R, Mortazavi SH, Tafaroji J, Khalili A, Mohammadi J, Negahdari B, Joghataei MT, Al-Ramadi BK, Picard C, Parvaneh N, Rezaei N, Chatila TA, Massaad MJ, Keles S, Hammarström L, Geha RS, Aghamohammadi A.

J Allergy Clin Immunol. 2018 Apr;141(4):1450-1458. doi: 10.1016/j.jaci.2017.06.049. Epub 2017 Sep 12.

PMID:
28916186
15.

Advances in basic and clinical immunology in 2016.

Chinen J, Badran YR, Geha RS, Chou JS, Fried AJ.

J Allergy Clin Immunol. 2017 Oct;140(4):959-973. doi: 10.1016/j.jaci.2017.07.023. Epub 2017 Aug 19. Review.

PMID:
28826774
16.

Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1.

Platt CD, Fried AJ, Hoyos-Bachiloglu R, Usmani GN, Schmidt B, Whangbo J, Chiarle R, Chou J, Geha RS.

Clin Immunol. 2017 Oct;183:142-144. doi: 10.1016/j.clim.2017.08.007. Epub 2017 Aug 16.

PMID:
28822832
17.

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.

Seleman M, Hoyos-Bachiloglu R, Geha RS, Chou J.

Front Immunol. 2017 Jul 24;8:847. doi: 10.3389/fimmu.2017.00847. eCollection 2017. Review.

18.

Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature.

Yazdani R, Abolhassani H, Tafaroji J, Azizi G, Hamidieh AA, Chou J, Geha RS, Aghamohammadi A.

Clin Immunol. 2017 Oct;183:201-206. doi: 10.1016/j.clim.2017.07.007. Epub 2017 Jul 17. Review.

PMID:
28729231
19.

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS.

J Allergy Clin Immunol. 2018 Mar;141(3):1060-1073.e3. doi: 10.1016/j.jaci.2017.05.030. Epub 2017 Jun 17.

PMID:
28629746
20.

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.

Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, Algassim A, Keles S, Al Saud BK, Alkuraya FS, Jordan M, Geha RS, Chatila TA.

J Allergy Clin Immunol. 2018 Mar;141(3):1050-1059.e10. doi: 10.1016/j.jaci.2017.05.022. Epub 2017 Jun 7.

PMID:
28601686
21.

Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration.

Badran YR, Dedeoglu F, Leyva Castillo JM, Bainter W, Ohsumi TK, Bousvaros A, Goldsmith JD, Geha RS, Chou J.

J Exp Med. 2017 Jul 3;214(7):1937-1947. doi: 10.1084/jem.20160724. Epub 2017 Jun 9.

22.

The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils.

Behe P, Foote JR, Levine AP, Platt CD, Chou J, Benavides F, Geha RS, Segal AW.

Front Pharmacol. 2017 May 12;8:262. doi: 10.3389/fphar.2017.00262. eCollection 2017.

23.

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.

24.

Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function.

Platt CD, Chou J, Houlihan P, Badran YR, Kumar L, Bainter W, Poliani PL, Perez CJ, Dent SYR, Clapham DE, Benavides F, Geha RS.

J Allergy Clin Immunol. 2017 Dec;140(6):1651-1659.e1. doi: 10.1016/j.jaci.2016.12.974. Epub 2017 Feb 10.

PMID:
28192143
25.

Janus kinase 3 deficiency caused by a homozygous synonymous exonic mutation that creates a dominant splice site.

Platt CD, Massaad MJ, Cangemi B, Schmidt B, Aldhekri H, Geha RS.

J Allergy Clin Immunol. 2017 Jul;140(1):268-271.e6. doi: 10.1016/j.jaci.2016.09.057. Epub 2016 Dec 10. No abstract available.

26.

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.

Massaad MJ, Zhou J, Tsuchimoto D, Chou J, Jabara H, Janssen E, Glauzy S, Olson BG, Morbach H, Ohsumi TK, Schmitz K, Kyriacos M, Kane J, Torisu K, Nakabeppu Y, Notarangelo LD, Chouery E, Megarbane A, Kang PB, Al-Idrissi E, Aldhekri H, Meffre E, Mizui M, Tsokos GC, Manis JP, Al-Herz W, Wallace SS, Geha RS.

J Clin Invest. 2016 Nov 1;126(11):4219-4236. doi: 10.1172/JCI85647. Epub 2016 Oct 17.

27.

Staphylococcus aureus Exploits Epidermal Barrier Defects in Atopic Dermatitis to Trigger Cytokine Expression.

Nakatsuji T, Chen TH, Two AM, Chun KA, Narala S, Geha RS, Hata TR, Gallo RL.

J Invest Dermatol. 2016 Nov;136(11):2192-2200. doi: 10.1016/j.jid.2016.05.127. Epub 2016 Jul 2.

28.

Heterozygosity for transmembrane activator and calcium modulator ligand interactor A144E causes haploinsufficiency and pneumococcal susceptibility in mice.

Jabara HH, Lee JJ, Janssen E, Ullas S, Liadaki K, Garibyan L, Benson H, Sannikova T, Bram R, Hammarstrom L, Cruz AC, Siegel R, Manis J, Malley R, Geha RS.

J Allergy Clin Immunol. 2017 Apr;139(4):1293-1301.e4. doi: 10.1016/j.jaci.2016.07.028. Epub 2016 Sep 5.

29.

A DOCK8-WIP-WASp complex links T cell receptors to the actin cytoskeleton.

Janssen E, Tohme M, Hedayat M, Leick M, Kumari S, Ramesh N, Massaad MJ, Ullas S, Azcutia V, Goodnow CC, Randall KL, Qiao Q, Wu H, Al-Herz W, Cox D, Hartwig J, Irvine DJ, Luscinskas FW, Geha RS.

J Clin Invest. 2016 Oct 3;126(10):3837-3851. doi: 10.1172/JCI85774. Epub 2016 Sep 6.

30.

Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult.

Tahiat A, Badran YR, Chou J, Cangemi B, Lefranc G, Labgaa ZM, Oussalam S, Kaddouri-Slimani A, Belarbi A, Bendissari-Bouzid K, Gharnaout M, Geha RS, Djidjik R, Massaad MJ.

J Allergy Clin Immunol. 2017 Jan;139(1):372-375.e4. doi: 10.1016/j.jaci.2016.07.024. Epub 2016 Aug 24. No abstract available.

PMID:
27568080
31.

IL-23 induced in keratinocytes by endogenous TLR4 ligands polarizes dendritic cells to drive IL-22 responses to skin immunization.

Yoon J, Leyva-Castillo JM, Wang G, Galand C, Oyoshi MK, Kumar L, Hoff S, He R, Chervonsky A, Oppenheim JJ, Kuchroo VK, van den Brink MR, Malefyt Rde W, Tessier PA, Fuhlbrigge R, Rosenstiel P, Terhorst C, Murphy G, Geha RS.

J Exp Med. 2016 Sep 19;213(10):2147-66. doi: 10.1084/jem.20150376. Epub 2016 Aug 22.

32.

IL-22 derived from γδ T cells restricts Staphylococcus aureus infection of mechanically injured skin.

Malhotra N, Yoon J, Leyva-Castillo JM, Galand C, Archer N, Miller LS, Geha RS.

J Allergy Clin Immunol. 2016 Oct;138(4):1098-1107.e3. doi: 10.1016/j.jaci.2016.07.001. Epub 2016 Jul 15.

33.

Mutations in pyrin masquerading as a primary immunodeficiency.

Badran YR, Rajab M, Hanna-Wakim R, Bainter W, Cangemi B, Massaad MJ, Dbaibo G, Geha RS, Chou J.

Clin Immunol. 2016 Oct;171:65-66. doi: 10.1016/j.clim.2016.08.016. Epub 2016 Aug 15.

PMID:
27538774
34.

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ.

J Allergy Clin Immunol. 2016 Oct;138(4):1142-1151.e2. doi: 10.1016/j.jaci.2016.05.035. Epub 2016 Jul 12.

PMID:
27484032
35.

IL-33 promotes food anaphylaxis in epicutaneously sensitized mice by targeting mast cells.

Galand C, Leyva-Castillo JM, Yoon J, Han A, Lee MS, McKenzie ANJ, Stassen M, Oyoshi MK, Finkelman FD, Geha RS.

J Allergy Clin Immunol. 2016 Nov;138(5):1356-1366. doi: 10.1016/j.jaci.2016.03.056. Epub 2016 Jun 2.

36.

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation.

Keles S, Charbonnier LM, Kabaleeswaran V, Reisli I, Genel F, Gulez N, Al-Herz W, Ramesh N, Perez-Atayde A, Karaca NE, Kutukculer N, Wu H, Geha RS, Chatila TA.

J Allergy Clin Immunol. 2016 Nov;138(5):1384-1394.e2. doi: 10.1016/j.jaci.2016.04.023. Epub 2016 May 24.

37.

Hyper IgM Syndrome: a Report from the USIDNET Registry.

Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, Geha RS, Cunningham CK, Bonilla FA, Conley ME, Ferdman RM, Hernandez-Trujillo V, Puck JM, Sullivan K, Secord EA, Ramesh M, Cunningham-Rundles C.

J Clin Immunol. 2016 Jul;36(5):490-501. doi: 10.1007/s10875-016-0291-4. Epub 2016 May 17.

38.

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency.

Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, Elisofon SA, Hanna-Wakim R, Kim HB, Lehmann LE, McDonald DR, Notarangelo LD, Veys P, Chatila TA, Geha RS, Gaspar HB, Pai SY.

J Allergy Clin Immunol. 2016 Sep;138(3):852-859.e3. doi: 10.1016/j.jaci.2016.02.022. Epub 2016 Apr 6.

39.

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.

Badran YR, Massaad MJ, Bainter W, Cangemi B, Naseem SU, Javad H, Al-Tamemi S, Geha RS, Chou J.

Clin Immunol. 2016 May;166-167:100-2. doi: 10.1016/j.clim.2016.03.012. Epub 2016 Apr 6.

PMID:
27063589
40.

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.

Sobh A, Chou J, Schneider L, Geha RS, Massaad MJ.

J Allergy Clin Immunol. 2016 Jul;138(1):297-9. doi: 10.1016/j.jaci.2015.12.1320. Epub 2016 Mar 2. No abstract available.

PMID:
26948078
41.

Thymic stromal lymphopoietin and IL-33 promote skin inflammation and vaccinia virus replication in a mouse model of atopic dermatitis.

Oyoshi MK, Venturelli N, Geha RS.

J Allergy Clin Immunol. 2016 Jul;138(1):283-6. doi: 10.1016/j.jaci.2015.12.1304. Epub 2016 Jan 29. No abstract available.

42.

Spectrum of Phenotypes Associated with Mutations in LRBA.

Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, Mohammadzadeh I, El-Rajab MA, Massaad M, Chou J, Aghamohammadi A, Geha RS, Hammarström L.

J Clin Immunol. 2016 Jan;36(1):33-45. doi: 10.1007/s10875-015-0224-7. Epub 2015 Dec 28. Review.

PMID:
26707784
43.

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS.

Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7.

44.

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J.

J Allergy Clin Immunol. 2016 Mar;137(3):879-88.e2. doi: 10.1016/j.jaci.2015.08.020. Epub 2015 Oct 21.

45.

Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly.

Sobh A, Crestani E, Cangemi B, Kane J, Chou J, Pai SY, Notarangelo LD, Al-Herz W, Geha RS, Massaad MJ.

J Allergy Clin Immunol. 2016 Jan;137(1):324-327.e2. doi: 10.1016/j.jaci.2015.08.025. Epub 2015 Oct 10. No abstract available.

PMID:
26456038
46.

Wiskott-Aldrich Syndrome Interacting Protein Deficiency Uncovers the Role of the Co-receptor CD19 as a Generic Hub for PI3 Kinase Signaling in B Cells.

Keppler SJ, Gasparrini F, Burbage M, Aggarwal S, Frederico B, Geha RS, Way M, Bruckbauer A, Batista FD.

Immunity. 2015 Oct 20;43(4):660-73. doi: 10.1016/j.immuni.2015.09.004. Epub 2015 Oct 6.

47.

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD.

J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26. No abstract available.

48.

Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.

Gao L, Bin L, Rafaels NM, Huang L, Potee J, Ruczinski I, Beaty TH, Paller AS, Schneider LC, Gallo R, Hanifin JM, Beck LA, Geha RS, Mathias RA, Barnes KC, Leung DYM.

J Allergy Clin Immunol. 2015 Dec;136(6):1591-1600. doi: 10.1016/j.jaci.2015.06.047. Epub 2015 Sep 3.

49.

A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection.

Chou J, Hsu JT, Bainter W, Al-Attiyah R, Al-Herz W, Geha RS.

Clin Immunol. 2015 Dec;161(2):128-30. doi: 10.1016/j.clim.2015.08.003. Epub 2015 Aug 10.

PMID:
26272171
50.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD.

N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462.

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