CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Marjolein W J WentinkMirjam van der Burg

Abstract

Deficiencies in CD19 and CD81 (forming the CD19-complex with CD21 and CD225) cause a severe clinical phenotype. One CD21 deficient patient has been described. We present a second CD21 deficient patient, with a mild clinical phenotype and compared the immunobiological characteristics of CD21 and CD19 deficiency. CD21 deficiency was characterized by flowcytometric immunophenotyping and sequencing. Real-time PCR, in vitro stimulation and next generation sequencing were used to characterize B-cell responses and affinity maturation in CD21(-/-) and CD19(-/-) B cells. A compound heterozygous mutation in CD21 caused CD21 deficiency. CD21(-/-) B cells responded normally to in vitro stimulation and AID was transcribed. Affinity maturation was less affected by CD21 than by CD19 deficiency. Both CD21 and CD19 deficiencies cause hypogammaglobulinemia and reduced memory B cells. CD19 deficiency causes a more severe clinical phenotype. B-cell characteristics reflect this, both after in vitro stimulation as in affinity maturation.

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Citations

Jun 3, 2016·Journal of Medical Genetics·Delfien J A BogaertFilomeen Haerynck
Sep 6, 2019·Current Rheumatology Reports·Helen LeavisRuth D E Fritsch-Stork
Apr 30, 2020·Immunology and Cell Biology·Elissa K DeenickAlisa Kane
Aug 18, 2020·Cellular & Molecular Immunology·Emily S J EdwardsMenno C van Zelm
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Dec 1, 2020·Human Antibodies·Aicha El AllamFouad Seghrouchni
Mar 20, 2021·Cancer Biotherapy & Radiopharmaceuticals·Songlin QiuPeng Lü

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