Publications:

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Frontiers In Immunology

Vignesh, Pandiarajan P; Rawat, Amit A; Kumrah, Rajni R; Singh, Ankita A; Gummadi, Anjani A; Sharma, Madhubala M; Kaur, Anit A; Nameirakpam, Johnson J; Jindal, Ankur A; Suri, Deepti D; Gupta, Anju A; Khadwal, Alka A; Saikia, Biman B; Minz, Ranjana Walker RW; Sharma, Kaushal K; Desai, Mukesh M; Taur, Prasad P; Gowri, Vijaya V; Pandrowala, Ambreen A; Dalvi, Aparna A; Jodhawat, Neha N; Kambli, Priyanka P; Madkaikar, Manisha Rajan MR; Bhattad, Sagar S; Ramprakash, Stalin S; Cp, Raghuram R; Jayaram, Ananthvikas A; Sivasankaran, Meena M; Munirathnam, Deenadayalan D; Balaji, Sarath S; Rajendran, Aruna A; Aggarwal, Amita A; Singh, Komal K; Na, Fouzia F; George, Biju B; Mehta, Ankit A; Lashkari, Harsha Prasada HP; Uppuluri, Ramya R; Raj, Revathi R; Bartakke, Sandip S; Gupta, Kirti K; Sreedharanunni, Sreejesh S; Ogura, Yumi Y; Kato, Tamaki T; Imai, Kohsuke K; Chan, Koon Wing KW; Leung, Daniel D; Ohara, Osamu O; Nonoyama, Shigeaki S; Hershfield, Michael M; Lau, Yu-Lung YL; Singh, Surjit S

Publication Date: 2020

Variant appearance in text: ADA: 716G>A; G239D

PubMed Link: 33628209

Variant Present in the following documents:

• Main text
• fimmu-11-619146.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ADA: G239D

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Journal Of Clinical Immunology

Pajno, Roberta R; Pacillo, Lucia L; Recupero, Salvatore S; Cicalese, Maria P MP; Ferrua, Francesca F; Barzaghi, Federica F; Ricci, Silvia S; Marzollo, Antonio A; Pecorelli, Silvia S; Azzari, Chiara C; Finocchi, Andrea A; Cancrini, Caterina C; Di Matteo, Gigliola G; Russo, Gianni G; Alfano, Massimo M; Lesma, Arianna A; Salonia, Andrea A; Adams, Stuart S; Booth, Claire C; Aiuti, Alessandro A

Publication Date: 2020-05

Variant appearance in text: ADA: G239D

PubMed Link: 32307643

Variant Present in the following documents:

• Main text
• 10875_2020_Article_777.pdf

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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.

Journal Of Immunology Research

Essadssi, Soukaina S; Krami, Al Mehdi AM; Elkhattabi, Lamiae L; Elkarhat, Zouhair Z; Amalou, Ghita G; Abdelghaffar, Houria H; Rouba, Hassan H; Barakat, Abdelhamid A

Publication Date: 2019

Variant appearance in text: ADA: G239D; rs1312320956

PubMed Link: 31781678

Variant Present in the following documents:

• 5902391.f1.pdf

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Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.

Frontiers In Immunology

Aluri, Jahnavi J; Desai, Mukesh M; Gupta, Maya M; Dalvi, Aparna A; Terance, Antony A; Rosenzweig, Sergio D SD; Stoddard, Jennifer L JL; Niemela, Julie E JE; Tamankar, Vasundhara V; Mhatre, Snehal S; Bargir, Umair U; Kulkarni, Manasi M; Shah, Nitin N; Aggarwal, Amita A; Lashkari, Harsha Prasada HP; Krishna, Vidya V; Govindaraj, Geeta G; Kalra, Manas M; Madkaikar, Manisha M

Publication Date: 2019

Variant appearance in text: ADA: 716G>A; G239D

PubMed Link: 30778343

Variant Present in the following documents:

• Main text
• fimmu-10-00023.pdf

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