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Humoral immune defect

MedGen UID:
101091
•Concept ID:
C0522274
•
Disease or Syndrome
Synonyms: B-Cell Deficiency; Deficiency of Humoral Immunity; Humoral immunity deficiency; Predominantly B-cell defect
SNOMED CT: Humoral immune defect (103075007); Predominantly B-cell defect (103075007); Humoral immunity deficiency (103075007)

Definition

A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. [from NCI]

Professional guidelines

PubMed

HIV-1 treatment timing shapes the human intestinal memory B-cell repertoire to commensal bacteria.
Planchais C, Molinos-Albert LM, Rosenbaum P, Hieu T, Kanyavuz A, Clermont D, Prazuck T, Lefrou L, Dimitrov JD, Hüe S, Hocqueloux L, Mouquet H
Nat Commun 2023 Oct 10;14(1):6326. doi: 10.1038/s41467-023-42027-6. PMID: 37816704Free PMC Article
The leaky gut and the gut microbiome in sepsis - targets in research and treatment.
Chancharoenthana W, Kamolratanakul S, Schultz MJ, Leelahavanichkul A
Clin Sci (Lond) 2023 Apr 26;137(8):645-662. doi: 10.1042/CS20220777. PMID: 37083032Free PMC Article
Primary immunodeficiency in the neonate: Early diagnosis and management.
Walkovich K, Connelly JA
Semin Fetal Neonatal Med 2016 Feb;21(1):35-43. Epub 2016 Jan 8 doi: 10.1016/j.siny.2015.12.005. PMID: 26776073

Recent clinical studies

Etiology

Mycophenolate mofetil-induced hypogammaglobulinemia and infectious disease susceptibility in pediatric patients with chronic rheumatic disorders: a monocentric retrospective study.
Barbati F, Marrani E, Volpi B, Ferrara G, Lodi L, Mastrolia MV, Canessa C, Maccora I, Simonini G, Azzari C, Ricci S
Eur J Pediatr 2022 Sep;181(9):3439-3448. Epub 2022 Jul 14 doi: 10.1007/s00431-022-04560-2. PMID: 35834043
A humoral immune defect distinguishes the response to Staphylococcus aureus infections in mice with obesity and type 2 diabetes from that in mice with type 1 diabetes.
Farnsworth CW, Shehatou CT, Maynard R, Nishitani K, Kates SL, Zuscik MJ, Schwarz EM, Daiss JL, Mooney RA
Infect Immun 2015 Jun;83(6):2264-74. Epub 2015 Mar 23 doi: 10.1128/IAI.03074-14. PMID: 25802056Free PMC Article
Persistent humoral immune defect in highly active antiretroviral therapy-treated children with HIV-1 infection: loss of specific antibodies against attenuated vaccine strains and natural viral infection.
Bekker V, Scherpbier H, Pajkrt D, Jurriaans S, Zaaijer H, Kuijpers TW
Pediatrics 2006 Aug;118(2):e315-22. Epub 2006 Jul 17 doi: 10.1542/peds.2005-2616. PMID: 16847077
Giardia lamblia in AIDS patients with diarrhea.
Moolasart P
J Med Assoc Thai 1999 Jul;82(7):654-9. PMID: 10511766
Secretion rates of immunoglobulins, albumin, haptoglobin and complement factors C3 and C4 in the perfused jejunum and ileum of human Salmonella carriers.
Høj L, Binder V, Espersen F, Greibe J, Rasmussen SN, Rask-Madsen J
Acta Pathol Microbiol Immunol Scand C 1984 Apr;92(2):129-32. doi: 10.1111/j.1699-0463.1984.tb00063.x. PMID: 6730973

Diagnosis

Giardia lamblia in AIDS patients with diarrhea.
Moolasart P
J Med Assoc Thai 1999 Jul;82(7):654-9. PMID: 10511766
Familial combined cellular and humoral immune defect with multisystem granulomata.
Perks WH, Petheram IS
Thorax 1978 Feb;33(1):101-5. doi: 10.1136/thx.33.1.101. PMID: 644530Free PMC Article

Therapy

Mycophenolate mofetil-induced hypogammaglobulinemia and infectious disease susceptibility in pediatric patients with chronic rheumatic disorders: a monocentric retrospective study.
Barbati F, Marrani E, Volpi B, Ferrara G, Lodi L, Mastrolia MV, Canessa C, Maccora I, Simonini G, Azzari C, Ricci S
Eur J Pediatr 2022 Sep;181(9):3439-3448. Epub 2022 Jul 14 doi: 10.1007/s00431-022-04560-2. PMID: 35834043
Lenalidomide treatment promotes CD154 expression on CLL cells and enhances production of antibodies by normal B cells through a PI3-kinase-dependent pathway.
Lapalombella R, Andritsos L, Liu Q, May SE, Browning R, Pham LV, Blum KA, Blum W, Ramanunni A, Raymond CA, Smith LL, Lehman A, Mo X, Jarjoura D, Chen CS, Ford R Jr, Rader C, Muthusamy N, Johnson AJ, Byrd JC
Blood 2010 Apr 1;115(13):2619-29. Epub 2009 Nov 24 doi: 10.1182/blood-2009-09-242438. PMID: 19965642Free PMC Article
Persistent humoral immune defect in highly active antiretroviral therapy-treated children with HIV-1 infection: loss of specific antibodies against attenuated vaccine strains and natural viral infection.
Bekker V, Scherpbier H, Pajkrt D, Jurriaans S, Zaaijer H, Kuijpers TW
Pediatrics 2006 Aug;118(2):e315-22. Epub 2006 Jul 17 doi: 10.1542/peds.2005-2616. PMID: 16847077
Giardia lamblia in AIDS patients with diarrhea.
Moolasart P
J Med Assoc Thai 1999 Jul;82(7):654-9. PMID: 10511766

Prognosis

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.
Piątosa B, van der Burg M, Siewiera K, Pac M, van Dongen JJ, Langerak AW, Chrzanowska KH, Bernatowska E
Cytometry A 2012 Oct;81(10):835-42. Epub 2012 Jul 31 doi: 10.1002/cyto.a.22108. PMID: 22851427
Persistent humoral immune defect in highly active antiretroviral therapy-treated children with HIV-1 infection: loss of specific antibodies against attenuated vaccine strains and natural viral infection.
Bekker V, Scherpbier H, Pajkrt D, Jurriaans S, Zaaijer H, Kuijpers TW
Pediatrics 2006 Aug;118(2):e315-22. Epub 2006 Jul 17 doi: 10.1542/peds.2005-2616. PMID: 16847077
Giardia lamblia in AIDS patients with diarrhea.
Moolasart P
J Med Assoc Thai 1999 Jul;82(7):654-9. PMID: 10511766

Clinical prediction guides

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.
Piątosa B, van der Burg M, Siewiera K, Pac M, van Dongen JJ, Langerak AW, Chrzanowska KH, Bernatowska E
Cytometry A 2012 Oct;81(10):835-42. Epub 2012 Jul 31 doi: 10.1002/cyto.a.22108. PMID: 22851427
Lenalidomide treatment promotes CD154 expression on CLL cells and enhances production of antibodies by normal B cells through a PI3-kinase-dependent pathway.
Lapalombella R, Andritsos L, Liu Q, May SE, Browning R, Pham LV, Blum KA, Blum W, Ramanunni A, Raymond CA, Smith LL, Lehman A, Mo X, Jarjoura D, Chen CS, Ford R Jr, Rader C, Muthusamy N, Johnson AJ, Byrd JC
Blood 2010 Apr 1;115(13):2619-29. Epub 2009 Nov 24 doi: 10.1182/blood-2009-09-242438. PMID: 19965642Free PMC Article
Persistent humoral immune defect in highly active antiretroviral therapy-treated children with HIV-1 infection: loss of specific antibodies against attenuated vaccine strains and natural viral infection.
Bekker V, Scherpbier H, Pajkrt D, Jurriaans S, Zaaijer H, Kuijpers TW
Pediatrics 2006 Aug;118(2):e315-22. Epub 2006 Jul 17 doi: 10.1542/peds.2005-2616. PMID: 16847077

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