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Immunodeficiency due to Quantitative Defects

MedGen UID:
1781353
•Concept ID:
C5447361
•
Disease or Syndrome

Definition

An indication that an immunodeficiency disorder is caused by a partial or complete loss of one or more of the hematopoietic cell lineages that are involved in host defense. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to Quantitative Defects

Professional guidelines

PubMed

Application of the diagnostic criteria for Common Variable Immunodeficiency in resource-limited settings.
Álvarez-Álvarez JA, Duque AG, Vásquez-Echeverri E, Sánchez IP, Hincapié SG, Gómez-Arias RD, Arango JCO, Franco JL, Trujillo-Vargas CM
Allergol Immunopathol (Madr) 2022;50(4):129-136. Epub 2022 Jul 1 doi: 10.15586/aei.v50i4.496. PMID: 35789412
Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency.
Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM
J Allergy Clin Immunol 2021 Feb;147(2):704-712.e17. Epub 2020 Aug 1 doi: 10.1016/j.jaci.2020.07.021. PMID: 32745555
Immunotherapy in the prophylaxis and treatment of neonatal sepsis.
Suri M, Harrison L, Van de Ven C, Cairo MS
Curr Opin Pediatr 2003 Apr;15(2):155-60. doi: 10.1097/00008480-200304000-00003. PMID: 12640271

Recent clinical studies

Etiology

An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.
Bolton C, Smillie CS, Pandey S, Elmentaite R, Wei G, Argmann C, Aschenbrenner D, James KR, McGovern DPB, Macchi M, Cho J, Shouval DS, Kammermeier J, Koletzko S, Bagalopal K, Capitani M, Cavounidis A, Pires E, Weidinger C, McCullagh J, Arkwright PD, Haller W, Siegmund B, Peters L, Jostins L, Travis SPL, Anderson CA, Snapper S, Klein C, Schadt E, Zilbauer M, Xavier R, Teichmann S, Muise AM, Regev A, Uhlig HH
Gastroenterology 2022 Mar;162(3):859-876. Epub 2021 Nov 13 doi: 10.1053/j.gastro.2021.11.014. PMID: 34780721
Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency.
Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM
J Allergy Clin Immunol 2021 Feb;147(2):704-712.e17. Epub 2020 Aug 1 doi: 10.1016/j.jaci.2020.07.021. PMID: 32745555
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473
Primary immune deficiency diseases as unrecognized causes of chronic respiratory disease.
Berger M, Geng B, Cameron DW, Murphy LM, Schulman ES
Respir Med 2017 Nov;132:181-188. Epub 2017 Oct 21 doi: 10.1016/j.rmed.2017.10.016. PMID: 29229095
Pneumocystis pneumonia in children.
Pyrgos V, Shoham S, Roilides E, Walsh TJ
Paediatr Respir Rev 2009 Dec;10(4):192-8. Epub 2009 Sep 25 doi: 10.1016/j.prrv.2009.06.010. PMID: 19879509

Diagnosis

Angioedema Without Wheals: Challenges in Laboratorial Diagnosis.
Grumach AS, Veronez CL, Csuka D, Farkas H
Front Immunol 2021;12:785736. Epub 2021 Dec 8 doi: 10.3389/fimmu.2021.785736. PMID: 34956216Free PMC Article
Lights and Shadows of TORCH Infection Proteomics.
Macedo-da-Silva J, Marinho CRF, Palmisano G, Rosa-Fernandes L
Genes (Basel) 2020 Aug 5;11(8) doi: 10.3390/genes11080894. PMID: 32764347Free PMC Article
Measuring SARS-CoV-2 neutralizing antibody activity using pseudotyped and chimeric viruses.
Schmidt F, Weisblum Y, Muecksch F, Hoffmann HH, Michailidis E, Lorenzi JCC, Mendoza P, Rutkowska M, Bednarski E, Gaebler C, Agudelo M, Cho A, Wang Z, Gazumyan A, Cipolla M, Caskey M, Robbiani DF, Nussenzweig MC, Rice CM, Hatziioannou T, Bieniasz PD
J Exp Med 2020 Nov 2;217(11) doi: 10.1084/jem.20201181. PMID: 32692348Free PMC Article
Small intestinal bacterial overgrowth syndrome.
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article
Leukocyte functions.
van der Valk P, Herman CJ
Lab Invest 1987 Feb;56(2):127-37. PMID: 3543488

Therapy

Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency.
Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM
J Allergy Clin Immunol 2021 Feb;147(2):704-712.e17. Epub 2020 Aug 1 doi: 10.1016/j.jaci.2020.07.021. PMID: 32745555
Measuring HIV Persistence on Antiretroviral Therapy.
Horsburgh BA, Palmer S
Adv Exp Med Biol 2018;1075:265-284. doi: 10.1007/978-981-13-0484-2_11. PMID: 30030797
Primary immune deficiency diseases as unrecognized causes of chronic respiratory disease.
Berger M, Geng B, Cameron DW, Murphy LM, Schulman ES
Respir Med 2017 Nov;132:181-188. Epub 2017 Oct 21 doi: 10.1016/j.rmed.2017.10.016. PMID: 29229095
Immune Reconstitution Inflammatory Syndrome (IRIS): What pathologists should know.
Nelson AM, Manabe YC, Lucas SB
Semin Diagn Pathol 2017 Jul;34(4):340-351. Epub 2017 Apr 26 doi: 10.1053/j.semdp.2017.04.010. PMID: 28552210
Pneumocystis pneumonia in children.
Pyrgos V, Shoham S, Roilides E, Walsh TJ
Paediatr Respir Rev 2009 Dec;10(4):192-8. Epub 2009 Sep 25 doi: 10.1016/j.prrv.2009.06.010. PMID: 19879509

Prognosis

Lights and Shadows of TORCH Infection Proteomics.
Macedo-da-Silva J, Marinho CRF, Palmisano G, Rosa-Fernandes L
Genes (Basel) 2020 Aug 5;11(8) doi: 10.3390/genes11080894. PMID: 32764347Free PMC Article
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473
Diagnostic Testing for Chronic Granulomatous Disease.
Kuhns DB
Methods Mol Biol 2019;1982:543-571. doi: 10.1007/978-1-4939-9424-3_33. PMID: 31172495
Small intestinal bacterial overgrowth syndrome.
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article
Disease due to the Mycobacterium avium complex in patients infected with human immunodeficiency virus: diagnosis and susceptibility testing.
Woods GL
Clin Infect Dis 1994 Apr;18 Suppl 3:S227-32. doi: 10.1093/clinids/18.supplement_3.s227. PMID: 7515701

Clinical prediction guides

Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries.
Guo Y, Zhang H, Lai H, Wang H, Chong-Neto HJ, Valle SOR, Zhu R
Orphanet J Rare Dis 2022 Nov 2;17(1):399. doi: 10.1186/s13023-022-02536-x. PMID: 36324138Free PMC Article
Rituximab and antimetabolite treatment of granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency.
Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM
J Allergy Clin Immunol 2021 Feb;147(2):704-712.e17. Epub 2020 Aug 1 doi: 10.1016/j.jaci.2020.07.021. PMID: 32745555
Lights and Shadows of TORCH Infection Proteomics.
Macedo-da-Silva J, Marinho CRF, Palmisano G, Rosa-Fernandes L
Genes (Basel) 2020 Aug 5;11(8) doi: 10.3390/genes11080894. PMID: 32764347Free PMC Article
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473
Disease due to the Mycobacterium avium complex in patients infected with human immunodeficiency virus: diagnosis and susceptibility testing.
Woods GL
Clin Infect Dis 1994 Apr;18 Suppl 3:S227-32. doi: 10.1093/clinids/18.supplement_3.s227. PMID: 7515701

Recent systematic reviews

Efficacy and Safety of Long-Term Oral Bosentan in Different Types of Pulmonary Arterial Hypertension: A Systematic Review and Meta-Analysis.
Kuang HY, Li Q, Du HA, Chen M, Yin YH
Am J Cardiovasc Drugs 2021 Mar;21(2):181-191. doi: 10.1007/s40256-020-00426-w. PMID: 32918210
Anti-epidermal growth factor receptor therapy for glioblastoma in adults.
Lee A, Arasaratnam M, Chan DLH, Khasraw M, Howell VM, Wheeler H
Cochrane Database Syst Rev 2020 May 12;5(5):CD013238. doi: 10.1002/14651858.CD013238.pub2. PMID: 32395825Free PMC Article
The interplay of HIV and human papillomavirus-related cancers in sub-Saharan Africa: scoping review.
Lekoane KMB, Kuupiel D, Mashamba-Thompson TP, Ginindza TG
Syst Rev 2020 Apr 22;9(1):88. doi: 10.1186/s13643-020-01354-1. PMID: 32321580Free PMC Article
Noncommunicable diseases among HIV-infected persons in low-income and middle-income countries: a systematic review and meta-analysis.
Patel P, Rose CE, Collins PY, Nuche-Berenguer B, Sahasrabuddhe VV, Peprah E, Vorkoper S, Pastakia SD, Rausch D, Levitt NS; NIH HIV/NCD Project Disease Condition Technical Operating Group
AIDS 2018 Jul 1;32 Suppl 1(Suppl 1):S5-S20. doi: 10.1097/QAD.0000000000001888. PMID: 29952786Free PMC Article
Evaluation and management of dyslipidemia in patients with HIV infection.
Green ML
J Gen Intern Med 2002 Oct;17(10):797-810. doi: 10.1046/j.1525-1497.2002.20201.x. PMID: 12390557Free PMC Article

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