The immunopathological landscape of human pre-TCRalpha deficiency: From rare to common variants. (https://pubmed.ncbi.nlm.nih.gov/38422122/)
These scientists studied a group of people who have a rare genetic change that affects their immune system. They found that these people have low numbers of a specific type of immune cells called naive alphabeta T cells when they are born, and this continues as they grow up. However, they have normal numbers of memory alphabeta and a different type of immune cells called gammadelta T cells.
The scientists also discovered that the genetic change leads to a different pathway for the development of the alphabeta T cells, which helps in rescuing their development. Some of these individuals experienced health issues like infections, abnormal growth of immune cells, and autoimmune diseases.
Additionally, the scientists found that in the Middle East and South Asia, about 1 in 4000 people have a common genetic change that affects their immune system differently. These individuals have normal numbers of naive alphabeta T cells but high numbers of gammadelta T cells. Although they have more alphabeta T cells due to some remaining expression of a specific protein, they are more prone to autoimmune diseases compared to the general population.
Materna M., Delmonte OM., Bosticardo M., Momenilandi M., Conrey PE., Charmeteau-De Muylder B., Bravetti C., Bellworthy R., Cederholm A., Staels F., Ganoza CA., Darko S., Sayed S., Le Floc'h C., Ogishi M., Rinchai D., Guenoun A., Bolze A., Khan T., Gervais A., Kruger R., Voller M., Palterer B., Sadeghi-Shabestari M., Langlois de Septenville A., Schramm CA., Shah S., Tello-Cajiao JJ., Pala F., Amini K., Campos JS., Lima NS., Eriksson D., Levy R., Seeleuthner Y., Jyonouchi S., Ata M., Al Ali F., Deswarte C., Pereira A., Megret J., Le Voyer T., Bastard P., Berteloot L., Dussiot M., Vladikine N., Cardenas PP., Jouanguy E., Alqahtani M., Hasan A., Thanaraj TA., Rosain J., Al Qureshah F., Sabato V., Alyanakian MA., Leruez-Ville M., Rozenberg F., Haddad E., Regueiro JR., Toribio ML., Kelsen JR., Salehi M., Nasiri S., Torabizadeh M., Rokni-Zadeh H., Changi-Ashtiani M., Vatandoost N., Moravej H., Akrami SM., Mazloomrezaei M., Cobat A., Meyts I., Toyofuku E., Nishimura M., Moriya K., Mizukami T., Imai K., Abel L., Malissen B., Al-Mulla F., Alkuraya FS., Parvaneh N., von Bernuth H., Beetz C., Davi F., Douek DC., Cheynier R., Langlais D., Landegren N., Marr N., Morio T., Shahrooei M., Schrijvers R., Henrickson SE., Luche H., Notarangelo LD., Casanova JL., Beziat V. The immunopathological landscape of human pre-TCRalpha deficiency: From rare to common variants. Science. 2024 Mar;383(6686):eadh4059. doi: 10.1126/science.adh4059. Epub 2024 Mar 1.