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PID Publications

Abolhassani, H., Chou, J., Bainter, W., Platt, C., Tavassoli, M., Momen, T., Tavakol, M., Hossein Eslamian, M., Gharagozlou, M., Movahedi, M., Ghadami, M., Ali Hamidieh, A., Azizi, G., Yazdani, R., Afarideh, M., Ghajar, A., Havaei, A., Chavoushzadeh, Z., Alireza Mahdaviani, S., Cheraghi, T., Amin, R., Aleyasin, S., Faridhosseini, R., Jabbari-Azad, F., Sherkat, R., Nabavi, M., Hassan Bemanian, M,. Mansouri, M., Mesdaghi, M., Babaie, D., Mohammadzadeh, I., Ghaffari, J., Shafiei, A., Kalantari, N., Arshi, S., Soheili, H., Dabbaghzadeh, A., Shirkani, A., Nasiri Kalmarzi, R., Hamidreza Mortazavi, S., Mohammadi, J., Negahdari, B., Joghataei, M.T., Picard, C., Parvaneh, N., Rezaei, N., Chatila, T., Massaad, M., Keles, S., Hammarström, L., Geha, R.S., Aghamohammadi, A. Clinical, Immunological and Genetic Spectrum of 696 Patients with Combined Immunodeficiency in Iran. J. All. Clin. Immunol.   141:1450-1458, 2018.

Petersheim D., Massad, M., Lee S., Cancrini C., Morio T., Lankester, A., Dorsey M., Di Giovanni D., Bezrodnik, L., Ohnishi, H., Nishikomori, R., Gelfand, E., Jain, A., Secord, E., Picard, C., Casanova, J.L., Albert, M.H., Torgerson, T.R., and Geha, R.S. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency J. All. Clin. Immunol. 141: 1060, 2018.

Hoyos-Bachiloglu, R. Chou, J., Sodroski, C., Bainter, W., Angelova, M., Al-Idrissi, E., Habazi, M., Alghamdi, H., Almanjomi, F., Al Shehri, M., Elsidig, N., Alaaeldin, M., Knipe, D., AlZahrani, M., and R. S. Geha A novel digenic human immunodeficiency impairing IFNAR1 and IFNGR2. J. Clin. Investigation.  127:4415-4420, 2017. doi: 10.1172/JCI93486. 

Hoyos-Bachiloglu, R., Seleman, M., *Geha, R.S., Chou, J. Genomics in Primary immunodeficiencies. Frontires in Immunology * Equal contributing senior author. J. All. Clin. Immunol. 139:372-375, 2017.

Jabara, H., Lee, J.J., Liadaki, K., Janssen, E., Garibyan, L., Benson, H., Sannikova, T., Bram, R., Hammarstrom, L., Cruz, A.C., Siegel, R., Malley, R., Geha, R.S.  TACI haploinsufficiency and susceptibility to fatal pneumococcal infection in mice heterozygous for the counterpart of the human TACI A181E mutation J. All. Clin. Immunol. 2016 Sep 5. pii: S0091-6749(16)30892-2. doi: 10.1016/j.jaci.

Jabara, H. H.*, Boyden, E. S.*, Chou, J.*, Ramesh, N., Massaad, J., M., Benson, H., Bainter, W., Fraulino, D., Rashimov, F., Sieff, C., Liu, Z., Alishemmari, H., S., al-Ramadi, K., B., Al-Dekhri, H., Arnaout, R., Abishkair, M., Vatsayan, A., Siliver, E., Ahuja, S., Davies, G., Sola-Visner, M., Ohsumi, K., T., Andrews, C., N., Notarangelo, D., L., Felming, D., M., Al-Herz, W., Kunkel. M., L., and Geha, R. S. Immunodeficiency caused by a mutation in transferrin receptor 1. * Equal first authors   Nature Genetics. 48: 74-8, 2016, 2016.

Chou, J., Massaad, M., Cangemi, B., Bainter, W., Platt, C., Al-Herz, W., and Geha, R.S. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J. All. Clin. Immunol. 135: 794-7, 2015.

Mooster, M.L., Le Bras, S., MAssaad, M. J., Jabara, H. J., Yoon. J., Heesters, Galand, C., B.A., Burton, O.T., Mattoo, H., Manis, J., and Geha, R.S. Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S321 mutation in IkBa.  J. Exp. Med. 212:185-202, 2015.

Jabara, H. H., Toshiro Ohsumi, T. Janet Chou, J., Massaad, M. J., Benson, B., Megarbane, A., Chouery, E., Mikhael, R., Gorka, O., Gewies, A., Portales, P., Nakayama, T., Hosokawa, H., Revy, P., Herrod, H., Le Deist, F., Lefranc, G., Ruland, J., and R. S. Geha. A Homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J. All. Clin. Immunol. 132: 151-158, 2013.

Chou, J., Ohsumi, T. and R. S. Geha. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiency. Current Opinion in Allergy & Clinical Immunology.  12:623-8, 2012.

Alangari, A., Alsultan, A., Adly, N., Massaad, M.J., Kiani, M.D., I., Aljebreen, A., Raddaoui, E.,  Almomen, A., Al-Muhsen, S., Geha R. S., Alkuraya, F. S. Combined Exome Sequencing and Autozygosity Mapping Reveals LRBA Gene Mutation in a Family with Inflammatory Bowel Disease and Combined Immunodeficiency. J. All. Clin. Immunol. 130: 481-488, 2012.

Jabara H., MacDonald D, Janssen, E., Massaad, M. J. Ramesh, N., Borzutzky, A., Rauter, I. Benson, H. Schneider, L., Baxi, S., Rechter, M., Notarangelo, L., Wakim, R., Dbaibo, G. Dasouki, M., Al-Herz, W., Barlan, I, Baris, S., Kutukculer, N., Ochs, H., Plebani, A., Kanariou, M, Lefranc, G., Reisli, I., Fitzgerald, K., Golenbock, D., Manis D., Keles, S, Baris, S., Ceja, R., Chatila, T., and R.S. Geha DOCK8 functions as an adaptor that links TLR/MyD88 signaling to B cell activation. Nature Immunology. 13: 612, 2012.

Lanzi, G., Moratto, D., Vairo, D., Masneri S., Delmonte, O., Parolini S., Tabellini, G., Tovo, P., Silvana Martino, S. Pessach, I., Massaad, M., Ramesh, N., Plebani, A., Notarangelo, L. D., Geha, R.S.*, and S. Giliani A novel primary immunodeficiency due to deficiency in the WASP interacting protein WIP. * Equal contributing senior author. J. Exp. Med. 209:29-34, 2012.

Mooster, J., Cancrini, C., Simonetti, A., Rossi, P.,Di MAtteo, G.,  Romiti, M.L.,. DiCeasere S., Notarangelo, L., Geha, R.S. and D.R McDonald. Immune deficiency caused by impaired expression of NEMO due to a mutation in the 5' untranslated region of the NEMO gene. * Equal contributors J. All. Clin. Immunol. 126:127-32. 2010.

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