Publications on PID

Immunodeficiencies affecting cellular and humoral immunity

Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency.
Govindaraj GM, Karuthedath Vellarikkal S, Jayarajan R.

Bilateral Extensive CMV Retinitis In A Sick Child – Harbinger Of Severe Combined Immunodeficiency.

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India.
Aluri J, Gupta M, Dalvi A, Mhatre S, Kulkarni M, Hule G, Desai M, Shah N, Taur P, Vedam R, Madkaikar M.
Front Immunol. 2018 Feb 16;9:188. doi: 10.3389/fimmu.2018.00188. eCollection 2018.
PMID:29527204

Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India.
Aluri J, Italia K, Gupta M, Dalvi A, Bavdekar A, Madkaikar M.
Blood Cells Mol Dis. 2017 Jun;65:95-96. doi: 10.1016/j.bcmd.2016.10.022. Epub 2016 Nov 5. No abstract available.
PMID:27839984

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
Bacchelli C, Moretti FA, Carmo M, Adams S, Stanescu HC, Pearce K, Madkaikar M, Gilmour KC, Nicholas AK, Woods CG, Kleta R, Beales PL, Qasim W, Gaspar HB.
J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5. doi: 10.1016/j.jaci.2016.05.036. Epub 2016 Jul 15.
PMID:27522155

Adenosine Deaminase Deficiency with a Novel Gene Mutation.
Gupta M, Aluri J, Terrance A, Madkaikar M.
Indian J Pediatr. 2016 Aug;83(8):875-6. doi: 10.1007/s12098-016-2098-y. Epub 2016 Apr 18. No abstract available.
PMID:27086606

Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India.
Madkaikar M, Aluri J, Gupta S.
Indian J Pediatr. 2016 May;83(5):455-62. doi: 10.1007/s12098-016-2059-5. Epub 2016 Feb 27. Review.
PMID:26920398

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
Adams SP, Wilson M, Harb E, Fairbanks L, Xu-Bayford J, Brown L, Kearney L, Madkaikar M, Bobby Gaspar H.
Clin Immunol. 2015 Dec;161(2):174-9. doi: 10.1016/j.clim.2015.08.001. Epub 2015 Aug 5.
PMID:26255240

Abolhassani, H., J. Chou, W. Bainter, C.D. Platt, M. Tavassoli, T. Momen, M. Tavakol, M.H. Eslamian, M. Gharagozlou, M. Movahedi, M. Ghadami, A.A. Hamidieh, G. Azizi, R. Yazdani, M. Afarideh, A. Ghajar, A. Havaei, Z. Chavoshzadeh, S.A. Mahdaviani, T. Cheraghi, N. Behniafard, R. Amin, S. Aleyasin, R. Faridhosseini, F. Jabbari-Azad, M. Nabavi, M.H. Bemanian, S. Arshi, R. Molatefi, R. Sherkat, M. Mansouri, M. Mesdaghi, D. Babaie, I. Mohammadzadeh, J. Ghaffari, A. Shafiei, N. Kalantari, H. Ahanchian, M. Khoshkhui, H. Soheili, A. Dabbaghzadeh, A. Shirkani, R. Nasiri Kalmarzi, S.H. Mortazavi, J. Tafaroji, A. Khalili, J. Mohammadi, B. Negahdari, M.T. Joghataei, B.K. Al-Ramadi, C. Picard, N. Parvaneh, N. Rezaei, T.A. Chatila, M.J. Massaad, S. Keles, L. Hammarstrom, R.S. Geha, and A. Aghamohammadi, Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol, 141, 1450, 2018.

Nourizadeh, M., L. Shakerian, S. Borte, M.R. Fazlollahi, M. Badalzadeh, M. Houshmand, Z. Alizadeh, H. Dalili, A. Rashid-Nezhad, A. Kazemnejad, M. Moin, L. Hammarström, and Z. Pourpak, Newborn screening using TREC/KREC assay for T and B cell lymphopenia in Iran. In press: Scand J Immunol, 2018.

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