Disorders of innate immunity [DS:H02525]
Disorders of adaptive immunity [DS:H02526]
Other well-defined immunodeficiency syndromes [DS:H00107]

McCusker C, Warrington R

Primary immunodeficiency.

Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
DOI:10.1186/1710-1492-7-S1-S11

Madkaikar M, Mishra A, Ghosh K

Diagnostic approach to primary immunodeficiency disorders.

Indian Pediatr 50:579-86 (2013)
DOI:10.1007/s13312-013-0171-4

Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency.

Nat Immunol 15:88-97 (2014)
DOI:10.1038/ni.2771

Sogkas G, Fedchenko M, Dhingra A, Jablonka A, Schmidt RE, Atschekzei F

Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta deficiency.

J Allergy Clin Immunol 142:1650-1653.e2 (2018)
DOI:10.1016/j.jaci.2018.06.039

Kerner G, Rosain J, Guerin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Beziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J

Inherited human IFN-gamma deficiency underlies mycobacterial disease.

J Clin Invest 130:3158-3171 (2020)
DOI:10.1172/JCI135460

Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D

Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.

Proc Natl Acad Sci U S A 97:4654-9 (2000)
DOI:10.1073/pnas.080074897

Hsu AP, Donko A, Arrington ME, Swamydas M, Fink D, Das A, Escobedo O, Bonagura V, Szabolcs P, Steinberg HN, Bergerson J, Skoskiewicz A, Makhija M, Davis J, Foruraghi L, Palmer C, Fuleihan RL, Church JA, Bhandoola A, Lionakis MS, Campbell S, Leto TL, Kuhns DB, Holland SM

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.

Blood 133:1977-1988 (2019)
DOI:10.1182/blood-2018-11-886028

Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, Wu C, Aghamohammadi A, Williams DA, Behrens TW, Hammarstrom L, Pan-Hammarstrom Q

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.

J Allergy Clin Immunol 135:1380-4.e1-5 (2015)
DOI:10.1016/j.jaci.2014.10.039

Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.

Blood 136:1055-1066 (2020)
DOI:10.1182/blood.2020005844

Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawinski P, Sladowski D, Nowis D, Ploski R

Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.

Hum Mol Genet 30:226-233 (2021)
DOI:10.1093/hmg/ddab035

Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

Am J Hum Genet 102:480-486 (2018)
DOI:10.1016/j.ajhg.2018.01.019

Carter-Timofte ME, Hansen AF, Mardahl M, Fribourg S, Rapaport F, Zhang SY, Casanova JL, Paludan SR, Christiansen M, Larsen CS, Mogensen TH

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins.

Neurol Neuroimmunol Neuroinflamm 5:e500 (2018)
DOI:10.1212/NXI.0000000000000500

Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.

Blood 138:1019-1033 (2021)
DOI:10.1182/blood.2020008629

Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppanen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner DL, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal alpha-toxin.

Science 376:eabm6380 (2022)
DOI:10.1126/science.abm6380

Goos H, Fogarty CL, Sahu B, Plagnol V, Rajamaki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Jarvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordstrom D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppanen MRJ

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.

J Allergy Clin Immunol 144:1364-1376 (2019)
DOI:10.1016/j.jaci.2019.06.003

Alosaimi MF, Hoenig M, Jaber F, Platt CD, Jones J, Wallace J, Debatin KM, Schulz A, Jacobsen E, Moller P, Shamseldin HE, Abdulwahab F, Ibrahim N, Alardati H, Almuhizi F, Abosoudah IF, Basha TA, Chou J, Alkuraya FS, Geha RS

Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency.

J Allergy Clin Immunol 144:574-583.e5 (2019)
DOI:10.1016/j.jaci.2019.03.002

Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoglu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.

Sci Immunol 7:eabi4611 (2022)
DOI:10.1126/sciimmunol.abi4611

Nunes-Santos CJ, Kuehn H, Boast B, Hwang S, Kuhns DB, Stoddard J, Niemela JE, Fink DL, Pittaluga S, Abu-Asab M, Davies JS, Barr VA, Kawai T, Delmonte OM, Bosticardo M, Garofalo M, Carneiro-Sampaio M, Somech R, Gharagozlou M, Parvaneh N, Samelson LE, Fleisher TA, Puel A, Notarangelo LD, Boisson B, Casanova JL, Derfalvi B, Rosenzweig SD

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.

Nat Commun 14:3708 (2023)
DOI:10.1038/s41467-023-39272-0

Shiraishi A, Uygun V, Sharfe N, Beldar S, Sun MGF, Dadi H, Vong L, Maxson M, Karaca NE, Mevlitoglu S, Grinstein S, Artan R, Merico D, Roifman CM

Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Blood 141:3226-3230 (2023)
DOI:10.1182/blood.2022017968

Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Arango-Franco CA, Voyer TL, Khan T, Yang R, Puchan J, Erazo L, Roiuk M, Vatovec T, Janda Z, Bagaric I, Materna M, Gervais A, Li H, Rosain J, Peel JN, Seeleuthner Y, Han JE, L'Honneur AS, Moncada-Velez M, Martin-Fernandez M, Horesh ME, Kochetkov T, Schmidt M, AlShehri MA, Salo E, Saxen H, ElGhazali G, Yatim A, Soudee C, Sallusto F, Ensser A, Marr N, Zhang P, Bogunovic D, Cobat A, Shahrooei M, Beziat V, Abel L, Wang X, Boisson-Dupuis S, Teleman AA, Bustamante J, Zhang Q, Casanova JL

Human MCTS1-dependent translation of JAK2 is essential for IFN-gamma immunity to mycobacteria.

Cell 186:5114-5134.e27 (2023)
DOI:10.1016/j.cell.2023.09.024

Momenilandi M, Levy R, Sobrino S, Li J, Lagresle-Peyrou C, Esmaeilzadeh H, Fayand A, Le Floc'h C, Guerin A, Della Mina E, Shearer D, Delmonte OM, Yatim A, Mulder K, Mancini M, Rinchai D, Denis A, Neehus AL, Balogh K, Brendle S, Rokni-Zadeh H, Changi-Ashtiani M, Seeleuthner Y, Deswarte C, Bessot B, Cremades C, Materna M, Cederholm A, Ogishi M, Philippot Q, Beganovic O, Ackermann M, Wuyts M, Khan T, Fouere S, Herms F, Chanal J, Palterer B, Bruneau J, Molina TJ, Leclerc-Mercier S, Pretet JL, Youssefian L, Vahidnezhad H, Parvaneh N, Claeys KG, Schrijvers R, Luka M, Perot P, Fourgeaud J, Nourrisson C, Poirier P, Jouanguy E, Boisson-Dupuis S, Bustamante J, Notarangelo LD, Christensen N, Landegren N, Abel L, Marr N, Six E, Langlais D, Waterboer T, Ginhoux F, Ma CS, Tangye SG, Meyts I, Lachmann N, Hu J, Shahrooei M, Bossuyt X, Casanova JL, Beziat V

FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.

Cell 187:2817-2837.e31 (2024)
DOI:10.1016/j.cell.2024.04.009

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, Stittrich A, 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 383:eadh4059 (2024)
DOI:10.1126/science.adh4059

Urban B, Batlle-Maso L, Perurena-Prieto J, Garcia-Prat M, Parra-Martinez A, Aguilo-Cucurull A, Martinez-Gallo M, Moushib L, Antolin M, Riviere JG, Soler-Palacin P, Dieli-Crimi R, Franco-Jarava C, Colobran R

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

J Clin Immunol 45:47 (2024)
DOI:10.1007/s10875-024-01833-3