Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 43 min ago
Peer-reviewedCC BYFrontiers in genetics

Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report

  • Mohammad Ameen Ishqair1
  • Abbas K. H. Masalma2
  • Mohanad Saleh3
  • Fawaz Awad1
  • Aliaa Khalili1
  • Anas Ameen Ishqair1
  • Somaya Salah4
  • Abed-Rahman N. Saleh5
5 affiliations
  1. 1Medical Research Club, Faculty of Medicine, Al-Quds University , ,
  2. 2Faculty of Medicine, Lincoln University College , ,
  3. 3Palestine Polytechnic University , ,
  4. 4Genetic Unit, Palestine Medical Complex , ,
  5. 5Faculty of Medicine, Hebron University , ,
Read full textPDFDOICite

Abstract

Background

SLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The clinical presentation is highly heterogeneous, often leading to delayed diagnosis, particularly in adults.Case presentation

A 33-year-old Palestinian woman born to consanguineous parents presented with a lifelong history of recurrent severe respiratory infections, growth failure (short stature and microcephaly), recurrent nephrolithiasis, chronic vomiting, generalized hirsutism, and bilateral hallux valgus. Laboratory evaluation revealed marked hypogammaglobulinemia (IgG <320 mg/dL, IgA <25 mg/dL, IgM <25 mg/dL), microcytic anemia, and severe vitamin D deficiency. Imaging confirmed chronic pulmonary small-airway changes and a chronically small right kidney with recurrent stones. Whole-exome sequencing identified a homozygous pathogenic SLC29A3 variant (c.1309G>A; p.Gly437Arg), establishing a diagnosis within the SLC29A3-related disorder spectrum. This case is unique due to its adult presentation, the exceptional severity of the humoral immunodeficiency, and the associated renal manifestations, which are infrequently reported in this spectrum.Conclusion

This report underscores the importance of considering SLC29A3-related disorder spectrum in adults with multisystem disease. Recognition of this spectrum enables targeted multidisciplinary care, including immunoglobulin replacement therapy and anticipatory surveillance for endocrine and renal complications.

Related

  1. A Novel Homozygous Variant Associated With Distinct Clinical Phenotypes of SDR9C7 Nonsyndromic Epidermal Differentiation Disorder in Two Affected Patients From a Consanguineous Saudi Family
    Faisal Almalki, Zaker Khoj, Essa Alharbi +1
    Molecular genetics & genomic medicinePeer-reviewedCC BY-NCFull textGenetics & genomicsEurope PMC
  2. Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c
    Max Brunkhorst, Lena Brunkhorst, Helge Martens +24
    Kidney InternationalPeer-reviewedCC BY 4.0Full text28 citedGeneral biologyHAL
  3. Sex-Based Differences in Core Symptoms of Autism Spectrum Disorder: A Systematic Review and Meta-analysis of Female Presentation
    Dayna Damiani–Arias, Ignacio Wettling–Carpio, Teresa Julio–Ramos +3
    Revista de Investigación e Innovación en Ciencias de la SaludPeer-reviewedCC BY-NC-NDFull textNeuroscienceDOAJ
  4. Alterations in local neural activity and functional connectivity density in first-episode and recurrent major depressive disorder: a resting-state fMRI study
    Kejing Zhang, Yue Chen, Ce Zhu +5
    BMC PsychiatryPeer-reviewedCC BY-NC-ND 4.0Full textNeurosciencePMCDOAJ
  5. Rituximab-induced hypogammaglobulinemia in autoimmune cytopenia and associated diseases.
    Jonathan Sormani, Alexandre Belot, David Goncalves +10
    La Revue de Médecine InternePeer-reviewedCC BYGeneral biologyEpidemiology & public healthHAL

Cite

BibTeXRIS
BibTeX
@article{ishqair2026adult,
  title = {{Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report}},
  author = {Mohammad Ameen Ishqair and Abbas K. H. Masalma and Mohanad Saleh and Fawaz Awad and Aliaa Khalili and Anas Ameen Ishqair and Somaya Salah and Abed-Rahman N. Saleh},
  journal = {Frontiers in genetics},
  year = {2026},
  month = oct,
  doi = {10.3389/fgene.2026.1904219},
  url = {https://europepmc.org/article/PMC/PMC13719138},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Adult presentation of SLC29A3-related disorder spectrum with marked hypogammaglobulinemia due to a recurrent homozygous pathogenic variant (G437R): a case report
AU  - Mohammad Ameen Ishqair
AU  - Abbas K. H. Masalma
AU  - Mohanad Saleh
AU  - Fawaz Awad
AU  - Aliaa Khalili
AU  - Anas Ameen Ishqair
AU  - Somaya Salah
AU  - Abed-Rahman N. Saleh
PY  - 2026
DA  - 2026/10/16
JO  - Frontiers in genetics
DO  - 10.3389/fgene.2026.1904219
UR  - https://europepmc.org/article/PMC/PMC13719138
AB  - Background  SLC29A3-related disorder spectrum encompasses rare autosomal recessive conditions characterized by multisystem involvement, including immunodeficiency, lymphoproliferation, cutaneous findings, endocrine dysfunction, and growth failure. The clinical presentation is highly heterogeneous, often leading to delayed diagnosis, particularly in adults.Case presentation  A 33-year-old Palestinian woman born to consanguineous parents presented with a lifelong history of recurrent severe respiratory infections, growth failure (short stature and microcephaly), recurrent nephrolithiasis, chronic vomiting, generalized hirsutism, and bilateral hallux valgus. Laboratory evaluation revealed marked hypogammaglobulinemia (IgG <320 mg/dL, IgA <25 mg/dL, IgM <25 mg/dL), microcytic anemia, and severe vitamin D deficiency. Imaging confirmed chronic pulmonary small-airway changes and a chronically small right kidney with recurrent stones. Whole-exome sequencing identified a homozygous pathogenic SLC29A3 variant (c.1309G>A; p.Gly437Arg), establishing a diagnosis within the SLC29A3-related disorder spectrum. This case is unique due to its adult presentation, the exceptional severity of the humoral immunodeficiency, and the associated renal manifestations, which are infrequently reported in this spectrum.Conclusion  This report underscores the importance of considering SLC29A3-related disorder spectrum in adults with multisystem disease. Recognition of this spectrum enables targeted multidisciplinary care, including immunoglobulin replacement therapy and anticipatory surveillance for endocrine and renal complications.
SN  - 1664-8021
ER  -