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Page 1
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Bousfiha A, et al. Among authors: somech r. J Clin Immunol. 2022 Oct;42(7):1508-1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6. J Clin Immunol. 2022. PMID: 36198931
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Picard C, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I. Tangye SG, et al. Among authors: somech r. J Clin Immunol. 2022 Oct;42(7):1473-1507. doi: 10.1007/s10875-022-01289-3. Epub 2022 Jun 24. J Clin Immunol. 2022. PMID: 35748970 Free PMC article.
Reply.
Somekh I, Somekh E, Pettoello-Mantovani M, Somech R. Somekh I, et al. Among authors: somech r. J Pediatr. 2020 Feb;217:220. doi: 10.1016/j.jpeds.2019.10.002. Epub 2019 Oct 31. J Pediatr. 2020. PMID: 31679633 No abstract available.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: somech r. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Helper T cell immunity in humans with inherited CD4 deficiency.
Guérin A, Moncada-Vélez M, Jackson K, Ogishi M, Rosain J, Mancini M, Langlais D, Nunez A, Webster S, Goyette J, Khan T, Marr N, Avery DT, Rao G, Waterboer T, Michels B, Neves E, Iracema Morais C, London J, Mestrallet S, Quartier Dit Maire P, Neven B, Rapaport F, Seeleuthner Y, Lev A, Simon AJ, Montoya J, Barel O, Gómez-Rodríguez J, Orrego JC, L'Honneur AS, Soudée C, Rojas J, Velez AC, Sereti I, Terrier B, Marin N, García LF, Abel L, Boisson-Dupuis S, Reis J, Marinho A, Lisco A, Faria E, Goodnow CC, Vasconcelos J, Béziat V, Ma CS, Somech R, Casanova JL, Bustamante J, Franco JL, Tangye SG. Guérin A, et al. Among authors: somech r. J Exp Med. 2024 May 6;221(5):e20231044. doi: 10.1084/jem.20231044. Epub 2024 Apr 1. J Exp Med. 2024. PMID: 38557723 Free PMC article.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: somech r. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).
Lee PY, Kellner ES, Huang Y, Furutani E, Huang Z, Bainter W, Alosaimi MF, Stafstrom K, Platt CD, Stauber T, Raz S, Tirosh I, Weiss A, Jordan MB, Krupski C, Eleftheriou D, Brogan P, Sobh A, Baz Z, Lefranc G, Irani C, Kilic SS, El-Owaidy R, Lokeshwar MR, Pimpale P, Khubchandani R, Chambers EP, Chou J, Geha RS, Nigrovic PA, Zhou Q. Lee PY, et al. Among authors: raz s. J Allergy Clin Immunol. 2020 Jun;145(6):1664-1672.e10. doi: 10.1016/j.jaci.2019.12.908. Epub 2020 Jan 13. J Allergy Clin Immunol. 2020. PMID: 31945408 Free PMC article.
The Clinician Scientist, a Distinct and Disappearing Entity.
Somekh I, Somekh E, Pettoello-Mantovani M, Somech R. Somekh I, et al. Among authors: somech r. J Pediatr. 2019 Sep;212:252-253.e2. doi: 10.1016/j.jpeds.2019.06.063. J Pediatr. 2019. PMID: 31439168 No abstract available.
Defining combined immunodeficiency.
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E. Roifman CM, et al. Among authors: somech r. J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029. Epub 2012 Jun 2. J Allergy Clin Immunol. 2012. PMID: 22664165
186 results