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Agammaglobulinemia 6, autosomal recessive(AGM6)

MedGen UID:
461557
Concept ID:
C3150207
Disease or Syndrome
Synonyms: AGAMMAGLOBULINEMIA 6; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT; AGM6
 
Gene (location): CD79B (17q23.3)
 
Monarch Initiative: MONDO:0012987
OMIM®: 612692

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. [from MONDO]

Clinical features

From HPO
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent bronchitis
MedGen UID:
148159
Concept ID:
C0741796
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Agammaglobulinemia
MedGen UID:
168
Concept ID:
C0001768
Disease or Syndrome
A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent bacterial infections
MedGen UID:
334943
Concept ID:
C1844383
Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Abnormal T cell morphology
MedGen UID:
343416
Concept ID:
C1855752
Finding
An abnormality of T cells.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.

Recent clinical studies

Etiology

Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, Sohani M, Delavari S, Kalantari A, Shariat M, Shafiei A, Lu N, Hassanpour G, Rahimi Hajiabadi M, Ashournia P, Razaghian A, Asgharyan M, Shahraki-Ghadimi Z, Rouhani R, Hoda Fallah F, Rezaei N, Abolhassani H, Aghamohammadi A
Pediatr Allergy Immunol 2020 May;31(4):405-417. Epub 2020 Mar 6 doi: 10.1111/pai.13228. PMID: 32058651
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
Lougaris V, Ferrari S, Plebani A
Curr Opin Allergy Clin Immunol 2008 Dec;8(6):515-9. doi: 10.1097/ACI.0b013e328314b621. PMID: 18978465
Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

Diagnosis

Ameratunga R, Edwards ESJ, Lehnert K, Leung E, Woon ST, Lea E, Allan C, Chan L, Steele R, Longhurst H, Bryant VL
J Allergy Clin Immunol Pract 2023 Jun;11(6):1646-1664. Epub 2023 Feb 14 doi: 10.1016/j.jaip.2023.01.048. PMID: 36796510
Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R
Front Immunol 2022;13:937108. Epub 2022 Sep 9 doi: 10.3389/fimmu.2022.937108. PMID: 36159847Free PMC Article
Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, Sohani M, Delavari S, Kalantari A, Shariat M, Shafiei A, Lu N, Hassanpour G, Rahimi Hajiabadi M, Ashournia P, Razaghian A, Asgharyan M, Shahraki-Ghadimi Z, Rouhani R, Hoda Fallah F, Rezaei N, Abolhassani H, Aghamohammadi A
Pediatr Allergy Immunol 2020 May;31(4):405-417. Epub 2020 Mar 6 doi: 10.1111/pai.13228. PMID: 32058651
Ben-Ali M, Kechout N, Mekki N, Yang J, Chan KW, Barakat A, Aadam Z, Gamara J, Gargouri L, Largueche B, BelHadj-Hmida N, Nedri A, Ameur HB, Mellouli F, Boukari R, Bejaoui M, Bousfiha A, Ben-Mustapha I, Lau YL, Barbouche MR
J Clin Immunol 2020 Jan;40(1):96-104. Epub 2019 Nov 6 doi: 10.1007/s10875-019-00706-4. PMID: 31696364
Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

Therapy

Drago E, Garbarino F, Signa S, Grossi A, Schena F, Penco F, Santori E, Candotti F, Boztug K, Volpi S, Gattorno M, Caorsi R
Front Immunol 2022;13:937108. Epub 2022 Sep 9 doi: 10.3389/fimmu.2022.937108. PMID: 36159847Free PMC Article
Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A
Blood 2016 Jul 7;128(1):45-54. Epub 2016 Apr 29 doi: 10.1182/blood-2016-01-688226. PMID: 27129325Free 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
Jariwala SP, Fodeman J, Hudes G, Ahuja K, Rosenstreich D
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S267-70. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0824-y. PMID: 18392747

Prognosis

Meshaal S, El Hawary R, Adel R, Abd Elaziz D, Erfan A, Lotfy S, Hafez M, Hassan M, Johnson M, Rojas-Restrepo J, Gamez-Diaz L, Grimbacher B, Shoman W, Abdelmeguid Y, Boutros J, Galal N, El-Guindy N, Elmarsafy A
J Clin Immunol 2020 Aug;40(6):820-832. Epub 2020 Jun 6 doi: 10.1007/s10875-020-00799-2. PMID: 32506362
Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, Sohani M, Delavari S, Kalantari A, Shariat M, Shafiei A, Lu N, Hassanpour G, Rahimi Hajiabadi M, Ashournia P, Razaghian A, Asgharyan M, Shahraki-Ghadimi Z, Rouhani R, Hoda Fallah F, Rezaei N, Abolhassani H, Aghamohammadi A
Pediatr Allergy Immunol 2020 May;31(4):405-417. Epub 2020 Mar 6 doi: 10.1111/pai.13228. PMID: 32058651
Galve J, Martín-Santiago A, Clavero C, Saus C, Alfaro-Arenas R, Pérez-Granero A, Balliu PR, Ferrando J
Cutis 2016 Jun;97(6):E1-5. PMID: 27416089
Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A
Blood 2016 Jul 7;128(1):45-54. Epub 2016 Apr 29 doi: 10.1182/blood-2016-01-688226. PMID: 27129325Free PMC Article
Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

Clinical prediction guides

Fekrvand S, Yazdani R, Olbrich P, Azizi G, Shirzadi R, Modaresi M, Sohani M, Delavari S, Kalantari A, Shariat M, Shafiei A, Lu N, Hassanpour G, Rahimi Hajiabadi M, Ashournia P, Razaghian A, Asgharyan M, Shahraki-Ghadimi Z, Rouhani R, Hoda Fallah F, Rezaei N, Abolhassani H, Aghamohammadi A
Pediatr Allergy Immunol 2020 May;31(4):405-417. Epub 2020 Mar 6 doi: 10.1111/pai.13228. PMID: 32058651
Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ
J Clin Immunol 2018 May;38(4):484-493. Epub 2018 May 9 doi: 10.1007/s10875-018-0496-9. PMID: 29744787
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
Minegishi Y, Karasuyama H
Int Immunol 2009 Feb;21(2):105-12. Epub 2008 Dec 15 doi: 10.1093/intimm/dxn134. PMID: 19088064
Jariwala SP, Fodeman J, Hudes G, Ahuja K, Rosenstreich D
J Inherit Metab Dis 2008 Dec;31 Suppl 2:S267-70. Epub 2008 Apr 4 doi: 10.1007/s10545-008-0824-y. PMID: 18392747

Recent systematic reviews

Kiaee F, Zaki-Dizaji M, Hafezi N, Almasi-Hashiani A, Hamedifar H, Sabzevari A, Shirkani A, Zian Z, Jadidi-Niaragh F, Aghamahdi F, Goudarzvand M, Yazdani R, Abolhassani H, Aghamohammadi A, Azizi G
Endocr Metab Immune Disord Drug Targets 2021;21(4):664-672. doi: 10.2174/1871530320666200613204426. PMID: 32533820

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