Autosomal recessive agammaglobulinemic patient with a novel large deletion in IGHM presenting with mild clinical phenotype

Clin Immunol. 2020 Jan:210:108295. doi: 10.1016/j.clim.2019.108295. Epub 2019 Nov 1.

Authors

Ercan Nain¹, Ozge Ulgen², Ayca Kiykim¹, Elif Karakoc Aydiner¹, Ahmet Ozen¹, Safa Baris³

Affiliations

¹ Division of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Center for Primary Immunodeficiencies, Turkey.
² Division of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey.
³ Division of Pediatric Allergy and Immunology, Marmara University, Istanbul, Turkey; Istanbul Jeffrey Modell Center for Primary Immunodeficiencies, Turkey. Electronic address: safabaris@hotmail.com.

PMID: 31683053
DOI: 10.1016/j.clim.2019.108295

No abstract available

Keywords: Agammaglobulinemia; Autosomal recessive; Clinical variability; IGHM.

Publication types

Case Reports
Letter

MeSH terms

Agammaglobulinemia / diagnosis*
Agammaglobulinemia / genetics
Child, Preschool
Chromosome Disorders
Consanguinity
Genes, Recessive
Heavy Chain Disease / genetics*
Humans
Immunoglobulin mu-Chains / genetics*
Male
Phenotype
Sequence Deletion / genetics*

Substances

IGHM protein, human
Immunoglobulin mu-Chains