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Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D, van Leeuwen K, Madkaikar M, Kambli PM, Gupta M, Mathews V, Rawat A, Kuhns DB, Holland SM, de Boer M, Kanegane H, Parvaneh N, Lorenz M, Schwarz K, Klein C, Sherkat R, Jafari M, Wolach B, den Dunnen JT, Kuijpers TW, Köker MY. Roos D, et al. Among authors: kambli pm. Blood Cells Mol Dis. 2023 Mar;99:102726. doi: 10.1016/j.bcmd.2023.102726. Epub 2023 Jan 20. Blood Cells Mol Dis. 2023. PMID: 36696755
"FUT2" a potential genetic modifier in NCF1 deficiency.
Bargir UA, Hule GP, Kambli P, Kulkarni M, Donta AK, Taur P, Gorakshakar A, Desai M, Madkaikar MR. Bargir UA, et al. J Allergy Clin Immunol Pract. 2020 Mar;8(3):1097-1099. doi: 10.1016/j.jaip.2019.08.035. Epub 2019 Sep 5. J Allergy Clin Immunol Pract. 2020. PMID: 31494296 No abstract available.
Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.
Kambli PM, Bargir UA, Yadav RM, Gupta MR, Dalvi AD, Hule G, Kelkar M, Sawant-Desai S, Setia P, Jodhawat N, Nambiar N, Dhawale A, Gaikwad P, Shinde S, Taur P, Gowri V, Pandrowala A, Gupta A, Joshi V, Sharma M, Arora K, Pilania RK, Chaudhary H, Agarwal A, Katiyar S, Bhattad S, Ramprakash S, Cp R, Jayaram A, Gornale V, Raj R, Uppuluri R, Sivasankaran M, Munirathnam D, Lashkari HP, Kalra M, Sachdeva A, Sharma A, Balaji S, Govindraj GM, Karande S, Nanavati R, Manglani M, Subramanyam G, Sampagar A, Ck I, Gutha P, Kanakia S, Mundada SP, Krishna V, Nampoothiri S, Nemani S, Rawat A, Desai M, Madkaikar M. Kambli PM, et al. Front Immunol. 2020 Dec 16;11:612703. doi: 10.3389/fimmu.2020.612703. eCollection 2020. Front Immunol. 2020. PMID: 33391282 Free PMC article.
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P, Rawat A, Kumrah R, Singh A, Gummadi A, Sharma M, Kaur A, Nameirakpam J, Jindal A, Suri D, Gupta A, Khadwal A, Saikia B, Minz RW, Sharma K, Desai M, Taur P, Gowri V, Pandrowala A, Dalvi A, Jodhawat N, Kambli P, Madkaikar MR, Bhattad S, Ramprakash S, Cp R, Jayaram A, Sivasankaran M, Munirathnam D, Balaji S, Rajendran A, Aggarwal A, Singh K, Na F, George B, Mehta A, Lashkari HP, Uppuluri R, Raj R, Bartakke S, Gupta K, Sreedharanunni S, Ogura Y, Kato T, Imai K, Chan KW, Leung D, Ohara O, Nonoyama S, Hershfield M, Lau YL, Singh S. Vignesh P, et al. Front Immunol. 2021 Feb 8;11:619146. doi: 10.3389/fimmu.2020.619146. eCollection 2020. Front Immunol. 2021. PMID: 33628209 Free PMC article.
Novel CD3Z and CD3E Deficiency in Two Unrelated Females.
Setia P, Bargir UA, Aluri J, Sampagar A, Pandit A, Kumar V, Jodhawat N, Shabrish S, Sawant S, Kelkar M, Kambli P, Dalvi A, Madkaikar M. Setia P, et al. J Clin Immunol. 2021 Jul;41(5):1116-1118. doi: 10.1007/s10875-021-01010-w. Epub 2021 Mar 2. J Clin Immunol. 2021. PMID: 33655388 No abstract available.
Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.
Rawat A, Vignesh P, Sudhakar M, Sharma M, Suri D, Jindal A, Gupta A, Shandilya JK, Loganathan SK, Kaur G, Chawla S, Patra PK, Khadwal A, Saikia B, Minz RW, Aggarwal V, Taur P, Pandrowala A, Gowri V, Desai M, Kulkarni M, Hule G, Bargir U, Kambli P, Madkaikar M, Bhattad S, Ginigeri C, Kumar H, Jayaram A, Munirathnam D, Sivasankaran M, Raj R, Uppuluri R, Na F, George B, Lashkari HP, Kalra M, Sachdeva A, Seth S, Sabui T, Gupta A, van Leeuwen K, de Boer M, Chan KW, Imai K, Ohara O, Nonoyama S, Lau YL, Singh S. Rawat A, et al. Front Immunol. 2021 Feb 25;12:625320. doi: 10.3389/fimmu.2021.625320. eCollection 2021. Front Immunol. 2021. PMID: 33717137 Free PMC article.
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