Community Series in Primary Immunodeficiencies Worldwide: Volume III

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ORIGINAL RESEARCH

Published on 18 Aug 2025

Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia

Linyan Xiong
Qin Zhao
Qian Zhao
Zhiyong Zhang
Yunfei An
Xuemei Tang
Hirokazu Kanegane
Xi Yang
Xiaodong Zhao

doi 10.3389/fimmu.2025.1628507

1,088 views

CASE REPORT

Published on 31 Jul 2025

Case Report: GATA2 deficiency in two families with novel frameshift variants highlighting phenotypic diversity and need for early diagnosis

Miko Morimoto
Takuro Nishikawa
Atsushi Hijikata
Hiroshi Kasabata
Nobuhisa Maeda
Shuji Kanmura
Shogo Horikawa
Jun Nagahama
Aki Nakamura
6 more
Yasuhiro Okamoto

doi 10.3389/fimmu.2025.1644552

1,384 views

CASE REPORT

Published on 08 Jul 2025

Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity

Madoka Nishimura
Dan Tomomasa
Rika Suzuki
Futaba Miyaoka
Hirokazu Kanegane

doi 10.3389/fimmu.2025.1605857

1,080 views

CASE REPORT

Published on 19 May 2025

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

Oksana Boyarchuk
Alla Volokha
Nataliia Yarema
Olga Dyvoniak
Tetyana Tomashivska
Ivanna Shymanska
Halyna Makukh
Jolan E. Walter

doi 10.3389/fimmu.2025.1602107

2,056 views
1 citation

CASE REPORT

Published on 05 May 2025

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome

Takuro Nishikawa
Dan Tomomasa
Atsushi Hijikata
Hiroshi Kasabata
Yasuhiro Okamoto
Hans D. Ochs
Hirokazu Kanegane

doi 10.3389/fimmu.2025.1572791

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Primary Immunodeficiencies

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