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Predominantly Antibody Deficiencies

MedGen UID:
1778857
Concept ID:
C5447324
Disease or Syndrome

Definition

A group of primary immunodeficiency diseases caused predominantly by antibody deficiencies, comprised of: Agammaglobulinemia with absent B cells; Severe reduction in at least two serum immunoglobulins, common variable immunodeficiency (CVID) phenotype; Severe reduction in serum IgG and IgA with normal or elevated IgM, hyper-IgM; and Isotype, light chain, or functional deficiencies with generally normal numbers of B cells. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPredominantly Antibody Deficiencies

Professional guidelines

PubMed

Mallart E, Françoise U, Driessen M, Blanche S, Lortholary O, Lefort A, Caseris M, Fischer A, Mahlaoui N, Charlier C; PREPI study group
J Allergy Clin Immunol 2023 Sep;152(3):760-770. Epub 2023 May 18 doi: 10.1016/j.jaci.2023.05.006. PMID: 37210041
Ameratunga R, Abolhassani H, Maglione PJ, Edwards ESJ
Front Immunol 2022;13:959720. Epub 2022 Aug 15 doi: 10.3389/fimmu.2022.959720. PMID: 36052063Free PMC Article
Cinetto F, Scarpa R, Pulvirenti F, Quinti I, Agostini C, Milito C
Expert Rev Respir Med 2019 Sep;13(9):823-838. Epub 2019 Jul 30 doi: 10.1080/17476348.2019.1641085. PMID: 31361157

Recent clinical studies

Etiology

Mallart E, Françoise U, Driessen M, Blanche S, Lortholary O, Lefort A, Caseris M, Fischer A, Mahlaoui N, Charlier C; PREPI study group
J Allergy Clin Immunol 2023 Sep;152(3):760-770. Epub 2023 May 18 doi: 10.1016/j.jaci.2023.05.006. PMID: 37210041
Giraldo-Ocampo S, Bonelo A, Zea-Vera AF
Adv Respir Med 2022 Jul 27;90(4):254-266. doi: 10.3390/arm90040035. PMID: 36004955Free PMC Article
Amirifar P, Yazdani R, Azizi G, Ranjouri MR, Durandy A, Plebani A, Lougaris V, Hammarstrom L, Aghamohammadi A, Abolhassani H
Pediatr Allergy Immunol 2021 Nov;32(8):1601-1615. Epub 2021 Jul 24 doi: 10.1111/pai.13589. PMID: 34181780
Yazdani R, Aghamohammadi A, Rezaei N
Endocr Metab Immune Disord Drug Targets 2021;21(4):647-663. doi: 10.2174/1871530320666200721013312. PMID: 32693771
Slade CA, Bosco JJ, Binh Giang T, Kruse E, Stirling RG, Cameron PU, Hore-Lacy F, Sutherland MF, Barnes SL, Holdsworth S, Ojaimi S, Unglik GA, De Luca J, Patel M, McComish J, Spriggs K, Tran Y, Auyeung P, Nicholls K, O'Hehir RE, Hodgkin PD, Douglass JA, Bryant VL, van Zelm MC
Front Immunol 2018;9:694. Epub 2018 May 14 doi: 10.3389/fimmu.2018.00694. PMID: 29867917Free PMC Article

Diagnosis

Ameratunga R, Abolhassani H, Maglione PJ, Edwards ESJ
Front Immunol 2022;13:959720. Epub 2022 Aug 15 doi: 10.3389/fimmu.2022.959720. PMID: 36052063Free PMC Article
Vilela MMDS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S67-S74. Epub 2020 Nov 24 doi: 10.1016/j.jped.2020.10.010. PMID: 33245895Free PMC Article
Yazdani R, Aghamohammadi A, Rezaei N
Endocr Metab Immune Disord Drug Targets 2021;21(4):647-663. doi: 10.2174/1871530320666200721013312. PMID: 32693771
Cinetto F, Scarpa R, Pulvirenti F, Quinti I, Agostini C, Milito C
Expert Rev Respir Med 2019 Sep;13(9):823-838. Epub 2019 Jul 30 doi: 10.1080/17476348.2019.1641085. PMID: 31361157
Slade CA, Bosco JJ, Binh Giang T, Kruse E, Stirling RG, Cameron PU, Hore-Lacy F, Sutherland MF, Barnes SL, Holdsworth S, Ojaimi S, Unglik GA, De Luca J, Patel M, McComish J, Spriggs K, Tran Y, Auyeung P, Nicholls K, O'Hehir RE, Hodgkin PD, Douglass JA, Bryant VL, van Zelm MC
Front Immunol 2018;9:694. Epub 2018 May 14 doi: 10.3389/fimmu.2018.00694. PMID: 29867917Free PMC Article

Therapy

Condino-Neto A, Gennery AR
Front Immunol 2022;13:1010072. Epub 2022 Aug 26 doi: 10.3389/fimmu.2022.1010072. PMID: 36091052Free PMC Article
Ripen AM, Chear CT, Baharin MF, Nallusamy R, Chan KC, Kassim A, Choo CM, Wong KJ, Fong SM, Tan KK, Nachiappan JP, Teo KR, Chiow MY, Hishamshah M, Ghani H, Muralitharan RR, Mohamad SB
Clin Exp Immunol 2021 Nov;206(2):119-128. Epub 2021 Jul 13 doi: 10.1111/cei.13626. PMID: 34060650Free PMC Article
Al-Herz W, Al-Ahmad M, Al-Khabaz A, Husain A, Sadek A, Othman Y
Front Immunol 2019;10:1754. Epub 2019 Jul 24 doi: 10.3389/fimmu.2019.01754. PMID: 31396239Free PMC Article
Bousfiha AA, Jeddane L, El Hafidi N, Benajiba N, Rada N, El Bakkouri J, Kili A, Benmiloud S, Benhsaien I, Faiz I, Maataoui O, Aadam Z, Aglaguel A, Baba LA, Jouhadi Z, Abilkassem R, Bouskraoui M, Hida M, Najib J, Alj HS, Ailal F; Moroccan Society for Primary Immunodeficiencies (MSPID)
J Clin Immunol 2014 May;34(4):459-68. Epub 2014 Mar 12 doi: 10.1007/s10875-014-0005-8. PMID: 24619622
Lee WI, Huang JL, Jaing TH, Shyur SD, Yang KD, Chien YH, Chiang BL, Soong WJ, Chiou SS, Shieh CC, Lin SJ, Yeh KW, Chen LC, Ou LS, Yao TC, Lin TY, Chiu CH, Huang YC, Wu KH, Lin CY, Yu HH, Yang YH, Yu HR, Yen HJ, Hsieh MY, Kuo ML, Hwu WL, Tsai YC, Kuo HC, Lin YL, Shih YF, Chang KW
Immunobiology 2011 Dec;216(12):1286-94. Epub 2011 Jun 21 doi: 10.1016/j.imbio.2011.06.002. PMID: 21782277

Prognosis

Lucane Z, Slisere B, Gersone G, Papirte S, Gailite L, Tretjakovs P, Kurjane N
Viruses 2023 May 10;15(5) doi: 10.3390/v15051146. PMID: 37243231Free PMC Article
Mallart E, Françoise U, Driessen M, Blanche S, Lortholary O, Lefort A, Caseris M, Fischer A, Mahlaoui N, Charlier C; PREPI study group
J Allergy Clin Immunol 2023 Sep;152(3):760-770. Epub 2023 May 18 doi: 10.1016/j.jaci.2023.05.006. PMID: 37210041
Amirifar P, Yazdani R, Azizi G, Ranjouri MR, Durandy A, Plebani A, Lougaris V, Hammarstrom L, Aghamohammadi A, Abolhassani H
Pediatr Allergy Immunol 2021 Nov;32(8):1601-1615. Epub 2021 Jul 24 doi: 10.1111/pai.13589. PMID: 34181780
Yazdani R, Aghamohammadi A, Rezaei N
Endocr Metab Immune Disord Drug Targets 2021;21(4):647-663. doi: 10.2174/1871530320666200721013312. PMID: 32693771
Cinetto F, Scarpa R, Pulvirenti F, Quinti I, Agostini C, Milito C
Expert Rev Respir Med 2019 Sep;13(9):823-838. Epub 2019 Jul 30 doi: 10.1080/17476348.2019.1641085. PMID: 31361157

Clinical prediction guides

Lucane Z, Slisere B, Gersone G, Papirte S, Gailite L, Tretjakovs P, Kurjane N
Viruses 2023 May 10;15(5) doi: 10.3390/v15051146. PMID: 37243231Free PMC Article
Karhan AN, Esenboğa S, Gümüş E, Karaatmaca B, Cagdas D, Demir H, Saltik Temizel İN, Özen H, Yüce A, Tezcan İ
Pediatr Int 2022 Jan;64(1):e14996. Epub 2021 Nov 23 doi: 10.1111/ped.14996. PMID: 34533857
Boral B, Ozden G
Clin Lab 2021 Nov 1;67(11) doi: 10.7754/Clin.Lab.2021.210234. PMID: 34758227
Lee JL, Mohd Saffian S, Makmor-Bakry M, Islahudin F, Alias H, Noh LM, Ismail IH, Mohamed Shah N
Br J Clin Pharmacol 2021 Jul;87(7):2956-2966. Epub 2021 Jan 11 doi: 10.1111/bcp.14712. PMID: 33377197
Korsunskiy I, Blyuss O, Gordukova M, Davydova N, Zaikin A, Zinovieva N, Zimin S, Molchanov R, Salpagarova A, Eremeeva A, Filipenko M, Prodeus A, Korsunskiy A, Hsu P, Munblit D
Front Immunol 2020;11:320. Epub 2020 Mar 3 doi: 10.3389/fimmu.2020.00320. PMID: 32194560Free PMC Article

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