A Case of X-linked Agammaglobulinemia First Diagnosed in Adulthood with Recurrent Pneumonia and Multiple Warty Skin Nodules

Misaki Isawa; Yoshihisa Tokunaga; Masaki Tominaga; Hiroyoshi Yamada; Misa Sudou; Sakiko Sumita; Saeko Tokisawa; Kiyohito Okumiya; Keishirou Houjou; Kenji Gotoh; Ryuta Nishikomori; Tomotaka Kawayama; Tomoaki Hoshino; Toshiaki Manabe

doi:10.2169/internalmedicine.5442-25

Misaki Isawa, Yoshihisa Tokunaga, Masaki Tominaga, Hiroyoshi Yamada, Misa Sudou, Sakiko Sumita, Saeko Tokisawa, Kiyohito Okumiya, Keishirou Houjou, Kenji Gotoh, Ryuta Nishikomori, Tomotaka Kawayama, Tomoaki Hoshino, Toshiaki Manabe

Author information

Misaki Isawa
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Yoshihisa Tokunaga
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Masaki Tominaga
Department of Community Medicine, Kurume University School of Medicine, Japan
Hiroyoshi Yamada
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Misa Sudou
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Sakiko Sumita
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Saeko Tokisawa
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Kiyohito Okumiya
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan
Keishirou Houjou
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan
Kenji Gotoh
Department of Infection Control and Prevention, Kurume University School of Medicine
Ryuta Nishikomori
Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan
Tomotaka Kawayama
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Tomoaki Hoshino
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan
Toshiaki Manabe
Sakaimachi-Oike Pathology Clinic, Consultant, Japan

Keywords: X-linked agammaglobulinemia, bacterial pneumonia, immunodeficiency, Bruton Tyrosine Kinase, Malassezia folliculitis

JOURNAL OPEN ACCESS Advance online publication

Article ID: 5442-25

DOI https://doi.org/10.2169/internalmedicine.5442-25

Details

Abstract

A 21-year-old man with a history of recurrent pneumonia and aggregated skin nodules on both legs was admitted to our hospital. His family history revealed an early death from unknown causes, which led us to suspect immune abnormalities. Laboratory tests showed markedly low B cell counts and serum IgG, IgA, and IgM levels, while his T-cell system appeared normal. Genetic testing revealed a Bruton Tyrosine Kinase gene variant, and the patient was diagnosed with X-linked agammaglobulinemia. The patient has recovered from all illnesses since receiving immunoglobulin replacement therapy and is currently doing well without any further infections.

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