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Decreased circulating level of specific antibody

MedGen UID:
1747183
Concept ID:
C5399780
Finding
Synonyms: Abnormal specific antibody response; Decreased specific antibody in blood; immunodeficiency due to selective anti-polysaccharide antibody deficiency; Immunodeficiency due to selective anti-polysaccharide antibody deficiency; Specific anti-polysaccharide antibody deficiency; Specific antibody deficiency; specific antibody deficiency
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
HPO: HP:0012475
Monarch Initiative: MONDO:0019093
Orphanet: ORPHA70593

Definition

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating level of specific antibody

Professional guidelines

PubMed

Bayar Muluk N, Bafaqeeh SA, Cingi C
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109674. Epub 2019 Sep 10 doi: 10.1016/j.ijporl.2019.109674. PMID: 31526939
Pugeat M, Plotton I, de la Perrière AB, Raverot G, Déchaud H, Raverot V
Eur J Endocrinol 2018 Apr;178(4):R141-R154. Epub 2018 Feb 16 doi: 10.1530/EJE-17-0776. PMID: 29453202
Lusher JM
Am J Obstet Gynecol 1996 Sep;175(3 Pt 2):778-83. doi: 10.1016/s0002-9378(96)80084-6. PMID: 8828561

Recent clinical studies

Etiology

Calvier L, Drelich A, Hsu J, Tseng CT, Mina Y, Nath A, Kounnas MZ, Herz J
Front Immunol 2023;14:1185748. Epub 2023 Jun 27 doi: 10.3389/fimmu.2023.1185748. PMID: 37441066Free PMC Article
Matsushima K, Yang D, Oppenheim JJ
Cytokine 2022 May;153:155828. Epub 2022 Mar 2 doi: 10.1016/j.cyto.2022.155828. PMID: 35247648
Byku M, Chang PP
Curr Opin Organ Transplant 2019 Jun;24(3):233-238. doi: 10.1097/MOT.0000000000000639. PMID: 31090629
Reiss AB, Shah N, Muhieddine D, Zhen J, Yudkevich J, Kasselman LJ, DeLeon J
Clin Sci (Lond) 2018 Jun 15;132(11):1135-1153. Epub 2018 Jun 12 doi: 10.1042/CS20180190. PMID: 29895529
Nilsson IM, Freiburghaus C
Adv Exp Med Biol 1995;386:175-84. doi: 10.1007/978-1-4613-0331-2_16. PMID: 8851026

Diagnosis

Jin L, Han S, Lv X, Li X, Zhang Z, Kuang H, Chen Z, Lv CA, Peng W, Yang Z, Yang M, Mi L, Liu T, Ma S, Qiu X, Wang Q, Pan X, Shan P, Feng Y, Li J, Wang F, Xie L, Zhao X, Fu JF, Lin JD, Meng ZX
Nat Commun 2023 Jul 19;14(1):4257. doi: 10.1038/s41467-023-39710-z. PMID: 37468484Free PMC Article
Freitag TL, Podojil JR, Pearson RM, Fokta FJ, Sahl C, Messing M, Andersson LC, Leskinen K, Saavalainen P, Hoover LI, Huang K, Phippard D, Maleki S, King NJC, Shea LD, Miller SD, Meri SK, Getts DR
Gastroenterology 2020 May;158(6):1667-1681.e12. Epub 2020 Feb 4 doi: 10.1053/j.gastro.2020.01.045. PMID: 32032584Free PMC Article
Ménard C, Pfau ML, Hodes GE, Russo SJ
Neuropsychopharmacology 2017 Jan;42(1):62-80. Epub 2016 Jun 13 doi: 10.1038/npp.2016.90. PMID: 27291462Free PMC Article
Lusher JM
Am J Obstet Gynecol 1996 Sep;175(3 Pt 2):778-83. doi: 10.1016/s0002-9378(96)80084-6. PMID: 8828561
Gurka G, Rocklin RE
JAMA 1987 Nov 27;258(20):2983-7. PMID: 3312681

Therapy

Freitag TL, Podojil JR, Pearson RM, Fokta FJ, Sahl C, Messing M, Andersson LC, Leskinen K, Saavalainen P, Hoover LI, Huang K, Phippard D, Maleki S, King NJC, Shea LD, Miller SD, Meri SK, Getts DR
Gastroenterology 2020 May;158(6):1667-1681.e12. Epub 2020 Feb 4 doi: 10.1053/j.gastro.2020.01.045. PMID: 32032584Free PMC Article
Bayar Muluk N, Bafaqeeh SA, Cingi C
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109674. Epub 2019 Sep 10 doi: 10.1016/j.ijporl.2019.109674. PMID: 31526939
Furie R, Werth VP, Merola JF, Stevenson L, Reynolds TL, Naik H, Wang W, Christmann R, Gardet A, Pellerin A, Hamann S, Auluck P, Barbey C, Gulati P, Rabah D, Franchimont N
J Clin Invest 2019 Mar 1;129(3):1359-1371. Epub 2019 Feb 18 doi: 10.1172/JCI124466. PMID: 30645203Free PMC Article
Reiss AB, Shah N, Muhieddine D, Zhen J, Yudkevich J, Kasselman LJ, DeLeon J
Clin Sci (Lond) 2018 Jun 15;132(11):1135-1153. Epub 2018 Jun 12 doi: 10.1042/CS20180190. PMID: 29895529
DeNardo GL, O'Donnell RT, DeNardo SJ
Cancer Chemother Biol Response Modif 2001;19:297-308. PMID: 11686019

Prognosis

Travelli C, Colombo G, Aliotta M, Fagiani F, Fava N, De Sanctis R, Grolla AA, Garcia JGN, Clemente N, Portararo P, Costanza M, Condorelli F, Colombo MP, Sangaletti S, Genazzani AA
J Immunother Cancer 2023 Oct;11(10) doi: 10.1136/jitc-2023-007010. PMID: 37880182Free PMC Article
Beran O, Matuskova K, Bartovska Z, Bartos O, Holub M
Bratisl Lek Listy 2022;123(4):244-247. doi: 10.4149/BLL_2022_039. PMID: 35294209
Borysenko A, Timokhina T, Kononova O
Georgian Med News 2021 Oct;(319):22-27. PMID: 34749317
Berzofsky JA, Terabe M, Trepel JB, Pastan I, Stroncek DF, Morris JC, Wood LV
Cancer Immunol Immunother 2018 Dec;67(12):1863-1869. Epub 2017 Nov 15 doi: 10.1007/s00262-017-2084-x. PMID: 29143114Free PMC Article
Nilsson IM, Freiburghaus C
Adv Exp Med Biol 1995;386:175-84. doi: 10.1007/978-1-4613-0331-2_16. PMID: 8851026

Clinical prediction guides

Travelli C, Colombo G, Aliotta M, Fagiani F, Fava N, De Sanctis R, Grolla AA, Garcia JGN, Clemente N, Portararo P, Costanza M, Condorelli F, Colombo MP, Sangaletti S, Genazzani AA
J Immunother Cancer 2023 Oct;11(10) doi: 10.1136/jitc-2023-007010. PMID: 37880182Free PMC Article
Calvier L, Drelich A, Hsu J, Tseng CT, Mina Y, Nath A, Kounnas MZ, Herz J
Front Immunol 2023;14:1185748. Epub 2023 Jun 27 doi: 10.3389/fimmu.2023.1185748. PMID: 37441066Free PMC Article
Matsushima K, Yang D, Oppenheim JJ
Cytokine 2022 May;153:155828. Epub 2022 Mar 2 doi: 10.1016/j.cyto.2022.155828. PMID: 35247648
Bayar Muluk N, Bafaqeeh SA, Cingi C
Int J Pediatr Otorhinolaryngol 2019 Dec;127:109674. Epub 2019 Sep 10 doi: 10.1016/j.ijporl.2019.109674. PMID: 31526939
Furie R, Werth VP, Merola JF, Stevenson L, Reynolds TL, Naik H, Wang W, Christmann R, Gardet A, Pellerin A, Hamann S, Auluck P, Barbey C, Gulati P, Rabah D, Franchimont N
J Clin Invest 2019 Mar 1;129(3):1359-1371. Epub 2019 Feb 18 doi: 10.1172/JCI124466. PMID: 30645203Free PMC Article

Recent systematic reviews

Krautz C, Maier SL, Brunner M, Langheinrich M, Giamarellos-Bourboulis EJ, Gogos C, Armaganidis A, Kunath F, Grützmann R, Weber GF
J Crit Care 2018 Jun;45:71-75. Epub 2018 Feb 14 doi: 10.1016/j.jcrc.2018.01.013. PMID: 29413726
Carrillo-Santisteve P, Tavoschi L, Severi E, Bonfigli S, Edelstein M, Byström E, Lopalco P; ECDC HAV Expert Panel
Lancet Infect Dis 2017 Oct;17(10):e306-e319. Epub 2017 Jun 20 doi: 10.1016/S1473-3099(17)30392-4. PMID: 28645862
Morselli-Labate AM, Pezzilli R
J Gastroenterol Hepatol 2009 Jan;24(1):15-36. Epub 2008 Dec 2 doi: 10.1111/j.1440-1746.2008.05676.x. PMID: 19067780

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