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Agammaglobulinemia 2, autosomal recessive(AGM2)

MedGen UID:
462100
•Concept ID:
C3150750
•
Disease or Syndrome
Synonyms: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT; AGM2
 
Gene (location): IGLL1 (22q11.23)
 
Monarch Initiative: MONDO:0013287
OMIM®: 613500

Definition

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. [from MONDO]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory 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
Meningitis
MedGen UID:
6298
•Concept ID:
C0025289
•
Disease or Syndrome
Inflammation of the meninges.
See: Feature record | Search on this feature
Decreased circulating IgA concentration
MedGen UID:
57934
•Concept ID:
C0162538
•
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
See: Feature record | Search on this feature
Decreased circulating total IgM
MedGen UID:
116095
•Concept ID:
C0239989
•
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
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
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
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Professional guidelines

PubMed

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI
J Clin Immunol 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. PMID: 38578360

Recent clinical studies

Etiology

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Marakhonov AV, Efimova IY, Mukhina AA, Zinchenko RA, Balinova NV, Rodina Y, Pershin D, Ryzhkova OP, Orlova AA, Zabnenkova VV, Cherevatova TB, Beskorovainaya TS, Shchagina OA, Polyakov AV, Markova ZG, Minzhenkova ME, Shilova NV, Larin SS, Khadzhieva MB, Dudina ES, Kalinina EV, Mudaeva DA, Saydaeva DH, Matulevich SA, Belyashova EY, Yakubovskiy GI, Tebieva IS, Gabisova YV, Irinina NA, Nurgalieva LR, Saifullina EV, Belyaeva TI, Romanova OS, Voronin SV, Shcherbina A, Kutsev SI
J Clin Immunol 2024 Apr 5;44(4):93. doi: 10.1007/s10875-024-01691-z. PMID: 38578360
Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.
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
A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.
Özen S, Batu ED, Taşkıran EZ, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Bilginer Y, Ayvaz DÇ, Tezcan I
J Rheumatol 2020 Jan;47(1):117-125. Epub 2019 May 1 doi: 10.3899/jrheum.181384. PMID: 31043544
First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).
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
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

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
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L
Rheumatol Int 2021 Jan;41(1):227-233. Epub 2019 Sep 20 doi: 10.1007/s00296-019-04444-z. PMID: 31541281
Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.
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
Evaluation of B lymphocyte deficiencies.
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. PMID: 23988001
Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies.
Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE
J Allergy Clin Immunol 2011 Jun;127(6):1329-41.e2; quiz 1342-3. Epub 2011 Apr 22 doi: 10.1016/j.jaci.2011.02.047. PMID: 21514636

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: 36159847Free PMC Article
Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.
Nihira H, Izawa K, Ito M, Umebayashi H, Okano T, Kajikawa S, Nanishi E, Keino D, Murakami K, Isa-Nishitani M, Shiba T, Honda Y, Hijikata A, Yasu T, Kubota T, Hasegawa Y, Kawashima Y, Nakano N, Takada H, Ohga S, Heike T, Takita J, Ohara O, Takei S, Takahashi M, Kanegane H, Morio T, Iwaki-Egawa S, Sasahara Y, Nishikomori R, Yasumi T
J Allergy Clin Immunol 2021 Aug;148(2):550-562. Epub 2021 Jan 30 doi: 10.1016/j.jaci.2021.01.018. PMID: 33529688
The same mutation in a family with adenosine deaminase 2 deficiency.
Sozeri B, Ercan G, Dogan OA, Yıldız J, Demir F, Doğanay L
Rheumatol Int 2021 Jan;41(1):227-233. Epub 2019 Sep 20 doi: 10.1007/s00296-019-04444-z. PMID: 31541281
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: 27129325Free PMC Article
First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).
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

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: 35592332Free PMC Article
Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.
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
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
Evaluation of B lymphocyte deficiencies.
Vickery JD, Michael CF, Lew DB
Cardiovasc Hematol Disord Drug Targets 2013 Aug;13(2):133-43. doi: 10.2174/1871529x11313020006. PMID: 23988001
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

Clinical prediction guides

Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2.
Hong Y, Casimir M, Houghton BC, Zhang F, Jensen B, Omoyinmi E, Torrance R, Papadopoulou C, Cummins M, Roderick M, Thrasher AJ, Brogan PA, Eleftheriou D
Front Immunol 2022;13:852830. Epub 2022 Apr 22 doi: 10.3389/fimmu.2022.852830. PMID: 35529868Free PMC Article
Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.
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
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
First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).
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
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

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

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