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Humoral immunodeficiency

MedGen UID:
1616160
Concept ID:
C1399819
Disease or Syndrome
HPO: HP:0005363

Definition

A general term referring to a defect in immunity resulting from impaired antibody production. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHumoral immunodeficiency

Professional guidelines

PubMed

Delgado-Fernández M, García-Gemar GM, Fuentes-López A, Muñoz-Pérez MI, Oyonarte-Gómez S, Ruíz-García I, Martín-Carmona J, Sanz-Cánovas J, Castaño-Carracedo MÁ, Reguera-Iglesias JM, Ruíz-Mesa JD
Enferm Infecc Microbiol Clin (Engl Ed) 2022 Nov;40(9):507-516. doi: 10.1016/j.eimce.2021.01.009. PMID: 36336380Free PMC Article
Patel NC
Pediatr Allergy Immunol 2018 Sep;29(6):583-588. Epub 2018 May 29 doi: 10.1111/pai.12923. PMID: 29744952
Bussel JB, Cunningham-Rundles C
Ration Drug Ther 1984 Jul;18(7):1-6. PMID: 6085405

Recent clinical studies

Etiology

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Patel NC
Pediatr Allergy Immunol 2018 Sep;29(6):583-588. Epub 2018 May 29 doi: 10.1111/pai.12923. PMID: 29744952
Moreau T, Calmels B, Barlogis V, Michel G, Tonnelle C, Chabannon C
Curr Gene Ther 2007 Aug;7(4):284-94. doi: 10.2174/156652307781369128. PMID: 17969561
Hassett JM
Pediatr Ann 1987 May;16(5):404-11. doi: 10.3928/0090-4481-19870501-08. PMID: 3302889
Wedgewood RJ
Clin Immunol Immunopathol 1986 Jul;40(1):147-50. doi: 10.1016/0090-1229(86)90079-6. PMID: 3720023

Diagnosis

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Park MA, Jenkins SM, Smith CY, Pyle RC, Sacco KA, Ryu E, Hagan JB, Joshi AY, Snyder MR, Abraham RS
Vaccine 2021 May 18;39(21):2850-2856. Epub 2021 Apr 22 doi: 10.1016/j.vaccine.2021.04.015. PMID: 33896666
Rijkers GT, Holzer L, Dusselier T
Curr Opin Pulm Med 2019 May;25(3):323-329. doi: 10.1097/MCP.0000000000000580. PMID: 30920458
Patel NC
Pediatr Allergy Immunol 2018 Sep;29(6):583-588. Epub 2018 May 29 doi: 10.1111/pai.12923. PMID: 29744952
Hassett JM
Pediatr Ann 1987 May;16(5):404-11. doi: 10.3928/0090-4481-19870501-08. PMID: 3302889

Therapy

Hammons LR, Szabo A, Janardan A, Dhakal B, Chhabra S, D'Souza A, Mohan M
JAMA Netw Open 2022 Oct 3;5(10):e2238961. doi: 10.1001/jamanetworkopen.2022.38961. PMID: 36306135Free PMC Article
Patel NC
Pediatr Allergy Immunol 2018 Sep;29(6):583-588. Epub 2018 May 29 doi: 10.1111/pai.12923. PMID: 29744952
Wasserman RL
Expert Rev Clin Immunol 2014 Mar;10(3):325-37. doi: 10.1586/1744666X.2014.891438. PMID: 24527947
Wilson NW, Hogan MB
Curr Allergy Asthma Rep 2008 Nov;8(6):519-24. doi: 10.1007/s11882-008-0095-6. PMID: 18940144
Wedgewood RJ
Clin Immunol Immunopathol 1986 Jul;40(1):147-50. doi: 10.1016/0090-1229(86)90079-6. PMID: 3720023

Prognosis

Honjo K, Russell RM, Li R, Liu W, Stoltz R, Tabengwa EM, Hua Y, Prichard L, Kornbrust AN, Sterrett S, Marques MB, Lima JL, Lough CM, McCarty TP, Ketas TJ, Hatziioannou T, Bieniasz PD, Redden DT, Moore JP, Goepfert PA, Heath SL, Hahn BH, Davis RS
Cell Rep Med 2021 Jan 19;2(1):100164. Epub 2020 Dec 5 doi: 10.1016/j.xcrm.2020.100164. PMID: 33521696Free PMC Article
Ochoa-Grullón J, Benavente Cuesta C, Pérez López C, Peña Cortijo A, Rodríguez de la Peña A, Álvarez Carmona A, Mateo Morales M, Llano-Hernández K, Williams LJ, Rodríguez de Frías E, Guevara-Hoyer K, Cordero Torres G, Orte C, Fernández-Arquero M, Fernández-Paredes L, Serrano-García I, Recio MJ, Pérez de Diego R, Martínez R, Sánchez-Ramón S
Clin Immunol 2020 Jan;210:108307. Epub 2019 Nov 21 doi: 10.1016/j.clim.2019.108307. PMID: 31760095
Rijkers GT, Holzer L, Dusselier T
Curr Opin Pulm Med 2019 May;25(3):323-329. doi: 10.1097/MCP.0000000000000580. PMID: 30920458
Pasic S
J Investig Allergol Clin Immunol 2015;25(2):137-8. PMID: 25997309
Ryan MW, Brooks EG
Curr Allergy Asthma Rep 2010 May;10(3):188-93. doi: 10.1007/s11882-010-0098-y. PMID: 20424995

Clinical prediction guides

Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members, Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol 2023 Apr;151(4):1081-1095. Epub 2022 Oct 11 doi: 10.1016/j.jaci.2022.09.002. PMID: 36228738Free PMC Article
Grywalska E, Zaborek M, Łyczba J, Hrynkiewicz R, Bębnowska D, Becht R, Sosnowska-Pasiarska B, Smok-Kalwat J, Pasiarski M, Góźdź S, Roliński J, Niedźwiedzka-Rystwej P
Cells 2020 Nov 2;9(11) doi: 10.3390/cells9112398. PMID: 33147729Free PMC Article
Ochoa-Grullón J, Benavente Cuesta C, Pérez López C, Peña Cortijo A, Rodríguez de la Peña A, Álvarez Carmona A, Mateo Morales M, Llano-Hernández K, Williams LJ, Rodríguez de Frías E, Guevara-Hoyer K, Cordero Torres G, Orte C, Fernández-Arquero M, Fernández-Paredes L, Serrano-García I, Recio MJ, Pérez de Diego R, Martínez R, Sánchez-Ramón S
Clin Immunol 2020 Jan;210:108307. Epub 2019 Nov 21 doi: 10.1016/j.clim.2019.108307. PMID: 31760095
Pasic S
J Investig Allergol Clin Immunol 2015;25(2):137-8. PMID: 25997309
Kuijpers TW, Bende RJ, Baars PA, Grummels A, Derks IA, Dolman KM, Beaumont T, Tedder TF, van Noesel CJ, Eldering E, van Lier RA
J Clin Invest 2010 Jan;120(1):214-22. Epub 2009 Dec 21 doi: 10.1172/JCI40231. PMID: 20038800Free PMC Article

Recent systematic reviews

Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Lahmer T, Peçanha-Pietrobom PM, Schmid RM, Colombo AL
Mycoses 2022 Feb;65(2):140-151. Epub 2021 Dec 8 doi: 10.1111/myc.13403. PMID: 34837414
Janssen LMA, van der Flier M, de Vries E
Front Immunol 2021;12:620709. Epub 2021 Mar 23 doi: 10.3389/fimmu.2021.620709. PMID: 33833753Free PMC Article
Zhang W, Chen X, Gao G, Xing S, Zhou L, Tang X, Zhao X, An Y
Front Immunol 2021;12:654406. Epub 2021 Mar 11 doi: 10.3389/fimmu.2021.654406. PMID: 33777053Free PMC Article
Grywalska E, Zaborek M, Łyczba J, Hrynkiewicz R, Bębnowska D, Becht R, Sosnowska-Pasiarska B, Smok-Kalwat J, Pasiarski M, Góźdź S, Roliński J, Niedźwiedzka-Rystwej P
Cells 2020 Nov 2;9(11) doi: 10.3390/cells9112398. PMID: 33147729Free PMC Article

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