Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Agammaglobulinemia 3, autosomal recessive(AGM3)

MedGen UID:: 462101
•Concept ID:: C3150751
•: Disease or Syndrome

Synonyms:	AGAMMAGLOBULINEMIA 3; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT; AGM3

Gene (location): Gene(s) directly associated with this condition or phenotype.	CD79A (19q13.2)

Monarch Initiative:	MONDO:0013288
OMIM®:	613501

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. [from MONDO]

Clinical features

From HPO

Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Recurrent bronchitis

MedGen UID:: 148159
•Concept ID:: C0741796
•: Disease or Syndrome

An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.

See: Feature record | Search on this feature

Recurrent lower respiratory tract infections

MedGen UID:: 756211
•Concept ID:: C3163798
•: Disease or Syndrome

An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

Neutropenia

MedGen UID:: 163121
•Concept ID:: C0853697
•: Finding

An abnormally low number of neutrophils in the peripheral blood.

See: Feature record | Search on this feature

Recurrent bacterial infections

MedGen UID:: 334943
•Concept ID:: C1844383
•: Finding

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.

See: Feature record | Search on this feature

Abnormal T cell morphology

MedGen UID:: 343416
•Concept ID:: C1855752
•: Finding

An abnormality of T cells.

See: Feature record | Search on this feature

Absent circulating B cells

MedGen UID:: 868166
•Concept ID:: C4022558
•: Finding

Complete lack of mature B cells, that is, of B cells that have left the bone marrow.

See: Feature record | Search on this feature

Absent isohemagglutinin level

MedGen UID:: 1691361
•Concept ID:: C5139456
•: Finding

Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).

See: Feature record | Search on this feature

Show all Hide all

Abnormality of the digestive system
- Diarrhea
Abnormality of the immune system
Abnormality of the respiratory system
- Recurrent bronchitis
- Recurrent lower respiratory tract infections
Growth abnormality
- Failure to thrive

Professional guidelines

PubMed

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Trakadis YJ, Alfares A, Bodamer OA, Buyukavci M, Christodoulou J, Connor P, Glamuzina E, Gonzalez-Fernandez F, Bibi H, Echenne B, Manoli I, Mitchell J, Nordwall M, Prasad C, Scaglia F, Schiff M, Schrewe B, Touati G, Tchan MC, Varet B, Venditti CP, Zafeiriou D, Rupar CA, Rosenblatt DS, Watkins D, Braverman N
J Inherit Metab Dis 2014 May;37(3):461-73. Epub 2013 Dec 5 doi: 10.1007/s10545-013-9664-5. PMID: 24305960

See all (1)

Recent clinical studies

Etiology

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R
Immunogenetics 2024 Jun;76(3):189-202. Epub 2024 Apr 29 doi: 10.1007/s00251-024-01342-y. PMID: 38683392

Brain Abscess in a Patient with Osteopetrosis: A Rare Complication.

İşeri Nepesov M, Kıral E, Bozan G, Kılıç Ö, Çarman KB, Yarar C, Şaylısoy S, Dinleyici EÇ
J Clin Res Pediatr Endocrinol 2021 Aug 23;13(3):358-361. Epub 2020 Aug 25 doi: 10.4274/jcrpe.galenos.2020.2020.0039. PMID: 32840095 Free PMC Article

A young girl with hypogammaglobulinemia and granulomatous hepatitis caused by a novel mutation in ZBTB24 gene: A case based analysis.

Banday AZ, Jindal AK, Kaur A, Kumar Y, Nameirakpam J, Patra PK, Rawat A
Immunobiology 2020 May;225(3):151912. Epub 2020 Feb 10 doi: 10.1016/j.imbio.2020.151912. PMID: 32061411

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD
Blood 2005 Mar 1;105(5):1881-90. Epub 2004 Sep 9 doi: 10.1182/blood-2003-12-4420. PMID: 15358621

Early defects in B cell development.

Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

See all (5)

Diagnosis

Deficiency of Adenosine Deaminase 2.

Coşkun Ç, Ünal Ş
Turk J Haematol 2024 Aug 28;41(3):133-140. Epub 2024 Aug 9 doi: 10.4274/tjh.galenos.2024.2024.0265. PMID: 39120005

B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.

Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.

Geraldo AF, Caorsi R, Tortora D, Gandolfo C, Ammendola R, Alessio M, Conti G, Insalaco A, Pastore S, Martino S, Ceccherini I, Signa S, Gattorno M, Rossi A, Severino M
AJNR Am J Neuroradiol 2021 May;42(5):975-979. Epub 2021 Feb 25 doi: 10.3174/ajnr.A7019. PMID: 33632736 Free PMC Article

Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1.

Tang P, Upton JEM, Barton-Forbes MA, Salvadori MI, Clynick MP, Price AK, Goobie SL
J Clin Immunol 2018 Jan;38(1):88-95. Epub 2017 Nov 25 doi: 10.1007/s10875-017-0462-y. PMID: 29178053

Early defects in B cell development.

Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

See all (21)

Therapy

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.

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: 36159847 Free PMC Article

Brain Abscess in a Patient with Osteopetrosis: A Rare Complication.

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

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: 27129325 Free PMC Article

Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

Females with a disorder phenotypically identical to X-linked agammaglobulinemia.

Conley ME, Sweinberg SK
J Clin Immunol 1992 Mar;12(2):139-43. doi: 10.1007/BF00918144. PMID: 1560108

See all (5)

Prognosis

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Castro ACE, Maia R, Batalha S, Freixo JP, Martins C, Neves C, Cordeiro AI, Neves JF
Front Immunol 2022;13:869728. Epub 2022 May 3 doi: 10.3389/fimmu.2022.869728. PMID: 35592332 Free PMC Article

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U
J Hum Genet 2019 Jul;64(7):609-616. Epub 2019 Apr 24 doi: 10.1038/s10038-019-0602-8. PMID: 31015584

Clinical and Immunological Characterization of ICF Syndrome in Japan.

Kamae C, Imai K, Kato T, Okano T, Honma K, Nakagawa N, Yeh TW, Noguchi E, Ohara A, Shigemura T, Takahashi H, Takakura S, Hayashi M, Honma A, Watanabe S, Shigemori T, Ohara O, Sasaki H, Kubota T, Morio T, Kanegane H, Nonoyama S
J Clin Immunol 2018 Nov;38(8):927-937. Epub 2018 Oct 23 doi: 10.1007/s10875-018-0559-y. PMID: 30353301

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Early defects in B cell development.

Conley ME
Curr Opin Allergy Clin Immunol 2002 Dec;2(6):517-22. doi: 10.1097/00130832-200212000-00007. PMID: 14752335

See all (7)

Clinical prediction guides

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

Carmona-Rivera C, Khaznadar SS, Shwin KW, Irizarry-Caro JA, O'Neil LJ, Liu Y, Jacobson KA, Ombrello AK, Stone DL, Tsai WL, Kastner DL, Aksentijevich I, Kaplan MJ, Grayson PC
Blood 2019 Jul 25;134(4):395-406. Epub 2019 Apr 23 doi: 10.1182/blood.2018892752. PMID: 31015188 Free PMC Article

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

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

Defects in Jak-STAT-mediated cytokine signals cause hyper-IgE syndrome: lessons from a primary immunodeficiency.

Minegishi Y, Karasuyama H
Int Immunol 2009 Feb;21(2):105-12. Epub 2008 Dec 15 doi: 10.1093/intimm/dxn134. PMID: 19088064

See all (3)

Recent systematic reviews

Clinical, Immunologic and Molecular Spectrum of Patients with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome: A Systematic Review.

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

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Agammaglobulinemia 3, autosomal recessive(AGM3)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity