T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses. Since B-cell-mediated antibody production requires intact T-cell function, most T-cell defects lead to "Combined immunodeficiency disorders".
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H02526 Disorders of adaptive immunity
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06537 TCR/BCR signaling
H02526 Disorders of adaptive immunity
Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, Andre-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S
Title
Loss of ARHGEF1 causes a human primary antibody deficiency.
Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ
Title
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E, Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A, Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K, Klein C
Title
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I
Title
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R
Title
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM
Title
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, Imai K, Takagi M, Kanegane H, Takeuchi M, Shimojo N, Tsumura M, Padhi AK, Zhang KYJ, Boisson B, Casanova JL, Ohara O, Rosenzweig SD, Taniuchi I, Morio T
Title
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S
Title
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.
Yang R, Weisshaar M, Mele F, Benhsaien I, Dorgham K, Han J, Croft CA, Notarbartolo S, Rosain J, Bastard P, Puel A, Fleckenstein B, Glimcher LH, Di Santo JP, Ma CS, Gorochov G, Bousfiha A, Abel L, Tangye SG, Casanova JL, Bustamante J, Sallusto F
Title
High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency.
Beziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet E, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot E, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Pretet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL
Title
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy.
