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Antibody Deficiency Syndrome

MedGen UID:
1584
•Concept ID:
C0003257
•
Disease or Syndrome
Synonyms: Antibody Deficiency Syndromes; Deficiency Syndrome, Antibody; Deficiency Syndromes, Antibody; Syndrome, Antibody Deficiency; Syndromes, Antibody Deficiency

Professional guidelines

PubMed

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Patel PK, Chinga ML, Yilmaz M, Joychan S, Ujhazi B, Ellison M, Gordon S, Nieves D, Csomos K, Eslin D, Afify ZA, Meznarich J, Bohnsack J, Walkovich K, Seidel MG, Sharapova S, Boyarchyk O, Latysheva E, Tuzankina I, Shaker AB, Ayala I, Sriaroon P, Westermann-Clark E, Walter JE
J Clin Immunol 2024 Jan 17;44(2):42. doi: 10.1007/s10875-023-01607-3. PMID: 38231436
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol 2014 Jul;134(1):116-26. Epub 2014 Feb 28 doi: 10.1016/j.jaci.2013.12.1077. PMID: 24582312

Recent clinical studies

Etiology

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Patel PK, Chinga ML, Yilmaz M, Joychan S, Ujhazi B, Ellison M, Gordon S, Nieves D, Csomos K, Eslin D, Afify ZA, Meznarich J, Bohnsack J, Walkovich K, Seidel MG, Sharapova S, Boyarchyk O, Latysheva E, Tuzankina I, Shaker AB, Ayala I, Sriaroon P, Westermann-Clark E, Walter JE
J Clin Immunol 2024 Jan 17;44(2):42. doi: 10.1007/s10875-023-01607-3. PMID: 38231436
Bronchial inflammation biomarker patterns link humoral immunodeficiency with bronchiectasis-related small airway dysfunction.
Zissler UM, Thron A, Eckrich J, Bakhtiar S, Schubert R, Zielen S
Clin Exp Allergy 2022 Jun;52(6):760-773. Epub 2022 Apr 11 doi: 10.1111/cea.14140. PMID: 35353925
Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).
McCullagh BN, Comellas AP, Ballas ZK, Newell JD Jr, Zimmerman MB, Azar AE
PLoS One 2017;12(2):e0172437. Epub 2017 Feb 17 doi: 10.1371/journal.pone.0172437. PMID: 28212436Free PMC Article
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol 2014 Jul;134(1):116-26. Epub 2014 Feb 28 doi: 10.1016/j.jaci.2013.12.1077. PMID: 24582312
Clinical and laboratory characteristics of 75 patients with specific polysaccharide antibody deficiency syndrome.
Cheng YK, Decker PA, O'Byrne MM, Weiler CR
Ann Allergy Asthma Immunol 2006 Sep;97(3):306-11. doi: 10.1016/S1081-1206(10)60794-6. PMID: 17042135

Diagnosis

Bronchial inflammation biomarker patterns link humoral immunodeficiency with bronchiectasis-related small airway dysfunction.
Zissler UM, Thron A, Eckrich J, Bakhtiar S, Schubert R, Zielen S
Clin Exp Allergy 2022 Jun;52(6):760-773. Epub 2022 Apr 11 doi: 10.1111/cea.14140. PMID: 35353925
Approach to primary immunodeficiency.
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396Free PMC Article
Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).
McCullagh BN, Comellas AP, Ballas ZK, Newell JD Jr, Zimmerman MB, Azar AE
PLoS One 2017;12(2):e0172437. Epub 2017 Feb 17 doi: 10.1371/journal.pone.0172437. PMID: 28212436Free PMC Article
Function of the tetraspanin molecule CD81 in B and T cells.
Levy S
Immunol Res 2014 May;58(2-3):179-85. doi: 10.1007/s12026-014-8490-7. PMID: 24522698
Common variable immunodeficiency: a review.
Di Renzo M, Pasqui AL, Auteri A
Clin Exp Med 2004 Apr;3(4):211-7. doi: 10.1007/s10238-004-0027-2. PMID: 15103511

Therapy

Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).
McCullagh BN, Comellas AP, Ballas ZK, Newell JD Jr, Zimmerman MB, Azar AE
PLoS One 2017;12(2):e0172437. Epub 2017 Feb 17 doi: 10.1371/journal.pone.0172437. PMID: 28212436Free PMC Article
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol 2014 Jul;134(1):116-26. Epub 2014 Feb 28 doi: 10.1016/j.jaci.2013.12.1077. PMID: 24582312
T and B cell deficiency associated with yellow nail syndrome.
Gupta S, Samra D, Yel L, Agrawal S
Scand J Immunol 2012 Mar;75(3):329-35. doi: 10.1111/j.1365-3083.2011.02653.x. PMID: 21995335
Clinical and laboratory characteristics of 75 patients with specific polysaccharide antibody deficiency syndrome.
Cheng YK, Decker PA, O'Byrne MM, Weiler CR
Ann Allergy Asthma Immunol 2006 Sep;97(3):306-11. doi: 10.1016/S1081-1206(10)60794-6. PMID: 17042135
Antibody deficiency syndromes and novel immunodeficiencies.
Geha RS
Pediatr Infect Dis J 1988 May;7(5 Suppl):S57-60. PMID: 3041359

Prognosis

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Patel PK, Chinga ML, Yilmaz M, Joychan S, Ujhazi B, Ellison M, Gordon S, Nieves D, Csomos K, Eslin D, Afify ZA, Meznarich J, Bohnsack J, Walkovich K, Seidel MG, Sharapova S, Boyarchyk O, Latysheva E, Tuzankina I, Shaker AB, Ayala I, Sriaroon P, Westermann-Clark E, Walter JE
J Clin Immunol 2024 Jan 17;44(2):42. doi: 10.1007/s10875-023-01607-3. PMID: 38231436
Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).
McCullagh BN, Comellas AP, Ballas ZK, Newell JD Jr, Zimmerman MB, Azar AE
PLoS One 2017;12(2):e0172437. Epub 2017 Feb 17 doi: 10.1371/journal.pone.0172437. PMID: 28212436Free PMC Article
Effective treatment of common variable immunodeficiency associated diarrhea.
Córdova Guevara H, Guarner Aguilar L
Rev Esp Enferm Dig 2009 Mar;101(3):215-9. doi: 10.4321/s1130-01082009000300009. PMID: 19388803
Common variable immunodeficiency: The power of co-stimulation.
Salzer U, Grimbacher B
Semin Immunol 2006 Dec;18(6):337-46. Epub 2006 Oct 4 doi: 10.1016/j.smim.2006.07.004. PMID: 17023177
Prematurity, hypogammaglobulinemia, and neuropathology with human immunodeficiency virus (HIV) infection.
Pahwa R, Good RA, Pahwa S
Proc Natl Acad Sci U S A 1987 Jun;84(11):3826-30. doi: 10.1073/pnas.84.11.3826. PMID: 3473485Free PMC Article

Clinical prediction guides

Antibody deficiency in patients with frequent exacerbations of Chronic Obstructive Pulmonary Disease (COPD).
McCullagh BN, Comellas AP, Ballas ZK, Newell JD Jr, Zimmerman MB, Azar AE
PLoS One 2017;12(2):e0172437. Epub 2017 Feb 17 doi: 10.1371/journal.pone.0172437. PMID: 28212436Free PMC Article
T and B cell deficiency associated with yellow nail syndrome.
Gupta S, Samra D, Yel L, Agrawal S
Scand J Immunol 2012 Mar;75(3):329-35. doi: 10.1111/j.1365-3083.2011.02653.x. PMID: 21995335
Transmembrane activator and calcium-modulator and cyclophilin ligand interactor mutations in common variable immunodeficiency.
Lee JJ, Ozcan E, Rauter I, Geha RS
Curr Opin Allergy Clin Immunol 2008 Dec;8(6):520-6. doi: 10.1097/ACI.0b013e3283141200. PMID: 18978466
Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency.
Salzer U, Hagena T, Webster DB, Grimbacher B
Int Arch Allergy Immunol 2008;147(2):147-51. Epub 2008 Jun 3 doi: 10.1159/000135702. PMID: 18520160
Immunological characterization of lymphoproliferative disorders by membrane markers.
Huber H, Michlmayr G, Huber C, Falkensammer M
Klin Wochenschr 1976 Aug 1;54(15):699-708. doi: 10.1007/BF01470461. PMID: 790006

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