PID Publications

Bainter, W., Platt, C., Park, S-Y., Stafstrom, K., Wallace, J., Becuwe, M., Salinas, S.A., Jones, J., Cohen, S., Walther, T.C., Farese Jr. R.V., Orange, J.S., Alkuraya, F.S., Naseem, S.U.R., Al-Tamemi, S., Chou, J., Hsu, V., and Geha, R.S. Combined immunodeficiency due to a mutation in the γ1 subunit of the Coat Protein I Complex. Journal of Clinical Investigation. In Press.

Platt, C.D., Zaman, F., Bainter, W., Stafstrom, K., Almutairi, A., Reigle, M., Weeks, S., Geha, R.S*., Chou, J., Efficacy and economics of targeted panel versus whole exome sequencing in 878 patients with suspected primary immunodeficiency. * Equal contributing senior author. J. All. Clin. Immunol. S0091-6749(20)31226-4. 2020. PMID: 32888943. DOI: 10.1016/j.jaci.2020.08.022.

Almutairi, A., Wallace, J.G., Alosaimi, M., Jones, J., Chou, J., Sobh, A., Geha, R.S. Severe combined immunodeficiency caused by Inositol-trisphosphate 3-Kinase B (ITPKB) deficiency. J. All. Clin. Immunol. 145(6):1696-1699.e6. 2020. PMID: 31987846. DOI: 10.1016/j.jaci.2020.01.014.

Chou, J., Alazami, A.M., Jaber, F., Hoyos-Bachiloglu, Jones, J., Weeks, S., Alosaimi, M., Bainter, W., Cangemi, B., Badran, Y., Mohammed, R., Alroqi, F., Almutairi, A., Al-Noufa, N., Alajaji, S., Al-Saud, B., Arnaout, R., Abdelrahman, A., Jacob, M., Haddad, H., Wakim, R.H., Dbaibo, G., Massaad, M., Dasouki, M., Mikhael, R., Baz, Z., Geha R.S*., Al-Mousa, H. Hypomorphic mutations in AK2 reveal the contribution of AK2 in B cell activation. * Equal contributing senior author. J. All. Clin. Immunol.   146:192-202. 2020. PMID: 31862378. DOI: 10.1016/j.jaci.2019.12.004.

Beaussant-Cohen, S., Jaber, F., Massaad, M., Wallace, J., Al-Herz, W. and  RS. Geha *, Chou, J. Combined immunodeficiency in a patient with c-Rel deficiency. * Equal contributing senior author. J. All. Clin. Immunol. 144: 606-608 2019. PMID: 31103457. 

Alosaimi, M., Hoenig, M., Jaber, F., Platt, C., Jones, J., Wallace, J., Debatin, K-M, Schulz, A., Jacobsen, E., Möller, P., Shamseldin. H.E., Abdulwahab, F., Niema, I., Alardati, H., Almuhizi, F., Abousoudah, I.F., Basha, T.A., Chou, J., Alkuraya, F.S., and Geha, R.S. Immunodeficiency and Epstein Barr virus induced lymphoproliferation caused by 4-1BB deficiency. J. All. Clin. Immunol. 144:574-583, 2019. PMID: 30872117. 

Lougaris, V., Chou, J., Beano, A., Wallace, J., Baronio, M., Gazzurelli, L., Lorenzini, T., Moratto, D., Tabellini, G., Parolini, S., Seleman, M., Stafstrom, K., Xu, H., Harris, C., Geha, R.S.*, Plebani, A. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. * Equal contributing senior author. J. All. Clin. Immunol. 143:1649-1653, 2019. PMID: 30654050. DOI: 10.1016/j.jaci.2019.01.001.

Beaussant Cohen, S., Bainter, W., Johnson, J.L., Lin, T-Y, Wong, C.Y., Wallace, J., Jones, J., Fatma Mir, Qamar, F., Cantley, L.C., Geha R.S., Chou, J. Human primary immunodeficiency caused by expression of a kinase dead p110δ mutant. J. All. Clin. Immunol. 143:797-799, 2019. PMID: 30336224. PMCID: PMC6387453. DOI: 10.1016/j.jaci.2018.10.005.

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. 

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.

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.

For a full list of Geha Lab publications