IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

Chen Wang; Beatriz E. Marciano; Annalie J. Harris; Alicia M. Johnston; Evsen Apaydin Arikan; Diana K. Bayer; Benjamin D. Solomon; Nathan B. Price; Craig D. Platt; Arunkumar J. Modi; Marcus S. Shaker; Christine M. Seroogy; Daniel Johnson; David E. Kleiner; Lavenda Chirombo Kluczynski; Victoria L. Anderson; Janine R. Daub; Joanne Berghout; Andrew J. Oler; Magdalena A. Walkiewicz; Morgan Similuk; David B. Lewis; John N. Galgiani; Alexandra F. Freeman; Lindsey B. Rosen; Amy P. Hsu; Christa S. Zerbe; Steven M. Holland

doi:10.1093/cid/ciaf637

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

Chen Wang
, Beatriz E. Marciano
, Annalie J. Harris
, Alicia M. Johnston
, Evsen Apaydin Arikan
, Diana K. Bayer
, Benjamin D. Solomon
, Nathan B. Price
, Craig D. Platt
, Arunkumar J. Modi
, Marcus S. Shaker
, Christine M. Seroogy
, Daniel Johnson
, David E. Kleiner
, Lavenda Chirombo Kluczynski
, Victoria L. Anderson
, Janine R. Daub
, Joanne Berghout
, Andrew J. Oler
, Magdalena A. Walkiewicz

Morgan Similuk, David B. Lewis, John N. Galgiani, Alexandra F. Freeman, Lindsey B. Rosen, Amy P. Hsu, Christa S. Zerbe, Steven M. Holland

Research output: Contribution to journal › Article › peer-review

Abstract

Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated Bacillus Calmette-Guérin (BCG) infection. In North America, however, where BCG is not used, it manifests with other bacterial or fungal infections, highlighting distinct, sometimes unrecognized, presentations of IL-12Rβ1 deficiency in this geographic area.

Original language	English (US)
Pages (from-to)	e328-e331
Journal	Clinical Infectious Diseases
Volume	82
Issue number	2
DOIs	https://doi.org/10.1093/cid/ciaf637
State	Published - Feb 15 2026

Keywords

Bordetella hinzii
Burkholderia vietnamiensis
IL-12Rβ1
blastomycosis
coccidioidomycosis

ASJC Scopus subject areas

Microbiology (medical)
Infectious Diseases

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10.1093/cid/ciaf637

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Wang, C., Marciano, B. E., Harris, A. J., Johnston, A. M., Apaydin Arikan, E., Bayer, D. K., Solomon, B. D., Price, N. B., Platt, C. D., Modi, A. J., Shaker, M. S., Seroogy, C. M., Johnson, D., Kleiner, D. E., Chirombo Kluczynski, L., Anderson, V. L., Daub, J. R., Berghout, J., Oler, A. J., ... Holland, S. M. (2026). IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes. Clinical Infectious Diseases, 82(2), e328-e331. https://doi.org/10.1093/cid/ciaf637

Wang, C, Marciano, BE, Harris, AJ, Johnston, AM, Apaydin Arikan, E, Bayer, DK, Solomon, BD, Price, NB, Platt, CD, Modi, AJ, Shaker, MS, Seroogy, CM, Johnson, D, Kleiner, DE, Chirombo Kluczynski, L, Anderson, VL, Daub, JR, Berghout, J, Oler, AJ, Walkiewicz, MA, Similuk, M, Lewis, DB, Galgiani, JN, Freeman, AF, Rosen, LB, Hsu, AP, Zerbe, CS & Holland, SM 2026, 'IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes', Clinical Infectious Diseases, vol. 82, no. 2, pp. e328-e331. https://doi.org/10.1093/cid/ciaf637

@article{06d1bbbf4a6742beb35debe7654d9541,

title = "IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes",

abstract = "Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated Bacillus Calmette-Gu{\'e}rin (BCG) infection. In North America, however, where BCG is not used, it manifests with other bacterial or fungal infections, highlighting distinct, sometimes unrecognized, presentations of IL-12Rβ1 deficiency in this geographic area.",

keywords = "Bordetella hinzii, Burkholderia vietnamiensis, IL-12Rβ1, blastomycosis, coccidioidomycosis",

author = "Chen Wang and Marciano, \{Beatriz E.\} and Harris, \{Annalie J.\} and Johnston, \{Alicia M.\} and \{Apaydin Arikan\}, Evsen and Bayer, \{Diana K.\} and Solomon, \{Benjamin D.\} and Price, \{Nathan B.\} and Platt, \{Craig D.\} and Modi, \{Arunkumar J.\} and Shaker, \{Marcus S.\} and Seroogy, \{Christine M.\} and Daniel Johnson and Kleiner, \{David E.\} and \{Chirombo Kluczynski\}, Lavenda and Anderson, \{Victoria L.\} and Daub, \{Janine R.\} and Joanne Berghout and Oler, \{Andrew J.\} and Walkiewicz, \{Magdalena A.\} and Morgan Similuk and Lewis, \{David B.\} and Galgiani, \{John N.\} and Freeman, \{Alexandra F.\} and Rosen, \{Lindsey B.\} and Hsu, \{Amy P.\} and Zerbe, \{Christa S.\} and Holland, \{Steven M.\}",

note = "Publisher Copyright: {\textcopyright} Published by Oxford University Press on behalf of Infectious Diseases Society of America 2025.",

year = "2026",

month = feb,

day = "15",

doi = "10.1093/cid/ciaf637",

language = "English (US)",

volume = "82",

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AU - Wang, Chen

AU - Marciano, Beatriz E.

AU - Harris, Annalie J.

AU - Johnston, Alicia M.

AU - Apaydin Arikan, Evsen

AU - Bayer, Diana K.

AU - Solomon, Benjamin D.

AU - Price, Nathan B.

AU - Platt, Craig D.

AU - Modi, Arunkumar J.

AU - Shaker, Marcus S.

AU - Seroogy, Christine M.

AU - Johnson, Daniel

AU - Kleiner, David E.

AU - Chirombo Kluczynski, Lavenda

AU - Anderson, Victoria L.

AU - Daub, Janine R.

AU - Berghout, Joanne

AU - Oler, Andrew J.

AU - Walkiewicz, Magdalena A.

AU - Similuk, Morgan

AU - Lewis, David B.

AU - Galgiani, John N.

AU - Freeman, Alexandra F.

AU - Rosen, Lindsey B.

AU - Hsu, Amy P.

AU - Zerbe, Christa S.

AU - Holland, Steven M.

N1 - Publisher Copyright: © Published by Oxford University Press on behalf of Infectious Diseases Society of America 2025.

PY - 2026/2/15

Y1 - 2026/2/15

N2 - Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated Bacillus Calmette-Guérin (BCG) infection. In North America, however, where BCG is not used, it manifests with other bacterial or fungal infections, highlighting distinct, sometimes unrecognized, presentations of IL-12Rβ1 deficiency in this geographic area.

AB - Interleukin-12 receptor β1 (IL-12Rβ1) deficiency is the most common genetic form of Mendelian susceptibility to mycobacterial disease globally, often presenting as disseminated Bacillus Calmette-Guérin (BCG) infection. In North America, however, where BCG is not used, it manifests with other bacterial or fungal infections, highlighting distinct, sometimes unrecognized, presentations of IL-12Rβ1 deficiency in this geographic area.

KW - Bordetella hinzii

KW - Burkholderia vietnamiensis

KW - IL-12Rβ1

KW - blastomycosis

KW - coccidioidomycosis

UR - https://www.scopus.com/pages/publications/105030989437

UR - https://www.scopus.com/pages/publications/105030989437#tab=citedBy

U2 - 10.1093/cid/ciaf637

DO - 10.1093/cid/ciaf637

M3 - Article

C2 - 41248676

SN - 1058-4838

VL - 82

SP - e328-e331

JO - Clinical Infectious Diseases

JF - Clinical Infectious Diseases

IS - 2

ER -

IL12RB1 Deficiency Appearing in North America: Expanding the Clinical Phenotypes

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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