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Agammaglobulinemia 8, autosomal dominant(AGM8A)

MedGen UID:
934753
Concept ID:
C4310786
Disease or Syndrome
Synonyms: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT; AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT; AGM8A
 
Gene (location): TCF3 (19p13.3)
 
Monarch Initiative: MONDO:0014840
OMIM®: 616941

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. [from MONDO]

Clinical features

From HPO
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.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
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.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Post-vaccination polio
MedGen UID:
1703246
Concept ID:
C5139072
Disease or Syndrome
Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise.

Recent clinical studies

Etiology

Gernez Y, Baker MG, Maglione PJ
Transfusion 2018 Dec;58 Suppl 3(Suppl 3):3056-3064. doi: 10.1111/trf.15020. PMID: 30536429Free PMC Article
Dury S, Colosio C, Etienne I, Anglicheau D, Merieau E, Caillard S, Rivalan J, Thervet E, Essig M, Babinet F, Subra JF, Toubas O, Rieu P, Launois C, Perotin-Collard JM, Lebargy F, Deslée G; Spiesser group
BMC Pulm Med 2015 Nov 7;15:141. doi: 10.1186/s12890-015-0133-9. PMID: 26545860Free PMC Article

Diagnosis

Gernez Y, Baker MG, Maglione PJ
Transfusion 2018 Dec;58 Suppl 3(Suppl 3):3056-3064. doi: 10.1111/trf.15020. PMID: 30536429Free PMC Article
Dury S, Colosio C, Etienne I, Anglicheau D, Merieau E, Caillard S, Rivalan J, Thervet E, Essig M, Babinet F, Subra JF, Toubas O, Rieu P, Launois C, Perotin-Collard JM, Lebargy F, Deslée G; Spiesser group
BMC Pulm Med 2015 Nov 7;15:141. doi: 10.1186/s12890-015-0133-9. PMID: 26545860Free PMC Article
Siedlar M, Rudzki Z, Strach M, Trzyna E, Pituch-Noworolska A, Błaut-Szlósarczyk A, Bukowska-Strakova K, Lenart M, Grodzicki T, Zembala M
Arch Immunol Ther Exp (Warsz) 2008 Nov-Dec;56(6):419-25. Epub 2008 Dec 1 doi: 10.1007/s00005-008-0046-x. PMID: 19043667Free PMC Article

Therapy

Gernez Y, Baker MG, Maglione PJ
Transfusion 2018 Dec;58 Suppl 3(Suppl 3):3056-3064. doi: 10.1111/trf.15020. PMID: 30536429Free PMC Article
Dury S, Colosio C, Etienne I, Anglicheau D, Merieau E, Caillard S, Rivalan J, Thervet E, Essig M, Babinet F, Subra JF, Toubas O, Rieu P, Launois C, Perotin-Collard JM, Lebargy F, Deslée G; Spiesser group
BMC Pulm Med 2015 Nov 7;15:141. doi: 10.1186/s12890-015-0133-9. PMID: 26545860Free PMC Article

Clinical prediction guides

IRF4 International Consortium, Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY
Sci Immunol 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. PMID: 36662884Free PMC Article
Dury S, Colosio C, Etienne I, Anglicheau D, Merieau E, Caillard S, Rivalan J, Thervet E, Essig M, Babinet F, Subra JF, Toubas O, Rieu P, Launois C, Perotin-Collard JM, Lebargy F, Deslée G; Spiesser group
BMC Pulm Med 2015 Nov 7;15:141. doi: 10.1186/s12890-015-0133-9. PMID: 26545860Free PMC Article

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