Autosomal recessive agammaglobulinemia

MedGen UID:: 1781876
•Concept ID:: C0865214
•: Disease or Syndrome

Synonym:	Autosomal Recessive Agammaglobulinemia
SNOMED CT:	Autosomal recessive agammaglobulinemia (1297036006)

Definition

A rare form of agammaglobulinemia, a primary immunodeficiency disease, characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive agammaglobulinemia

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of immune system physiology
    - Immunodeficiency
      - Humoral immune defect
        Hypogammaglobulinemia
        Autosomal recessive agammaglobulinemia

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

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M
Front Immunol 2020;11:1948. Epub 2020 Oct 16 doi: 10.3389/fimmu.2020.01948. PMID: 33178177 Free PMC Article

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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

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

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

Ig beta deficiency in humans.

Lougaris V, Ferrari S, Plebani A
Curr Opin Allergy Clin Immunol 2008 Dec;8(6):515-9. doi: 10.1097/ACI.0b013e328314b621. PMID: 18978465

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

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Diagnosis

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

Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain.

Khalili A, Yadegari AH, Delavari S, Yazdani R, Abolhassani H
Iran J Allergy Asthma Immunol 2021 Dec 8;20(6):778-783. doi: 10.18502/ijaai.v20i6.8030. PMID: 34920661

Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia.

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families.

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

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

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Therapy

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

Yu L, Zhang Y, Li W, Mao J, Li Y, Wang H, Li C, Yang L, He W, Jia Y, Tang W, Zhou L, Zhang Z, Jia Y, Tang X, Zhao X, An Y
J Clin Immunol 2024 May 28;44(6):137. doi: 10.1007/s10875-024-01740-7. PMID: 38805163

First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012).

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