Double Trouble: Novel Digenic CD19-RABEP2 Deletion in Predominantly Antibody Deficiency with Syndromic Features

J Clin Immunol. 2024 Jun 7;44(6):144. doi: 10.1007/s10875-024-01745-2.

Authors

Neha Jodhawat¹, Umair Ahmed Bargir¹, Goutham Rawal¹, Priti Kamble², Shweta Shinde-Vhatkar¹, Aparna Dalvi¹, Suhas Kulkarni², Manisha Madkaikar³

Affiliations

¹ Department of Pediatric immunology and leukocyte biology,, ICMR-National institute of immunohaematology (NIIH), Parel, Mumbai, 400012, Maharashtra, India.
² Department of Pediatrics, D Y Patil Hospital and Research Centre, Kolhapur, 416005, India.
³ Department of Pediatric immunology and leukocyte biology,, ICMR-National institute of immunohaematology (NIIH), Parel, Mumbai, 400012, Maharashtra, India. [email protected].

PMID: 38847890
DOI: 10.1007/s10875-024-01745-2

No abstract available

Publication types

Letter
Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Antigens, CD19* / genetics
Antigens, CD19* / immunology
Female
Gene Deletion
Humans
Immunologic Deficiency Syndromes / diagnosis
Immunologic Deficiency Syndromes / genetics
Male
Sequence Deletion / genetics

Substances

Antigens, CD19
CD19 molecule, human

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