Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia

Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia Publisher Pubmed

Summary: Can a gene defect cause severe childhood lung inflammation? Seven children had PTPN6 mutations that disabled SHP1, suggesting an inherited immune disorder. #Genetics #Immunology

Moussavi Harami S F ; Zinter M S ; Motta M ; Pannone L ; Calligari P ; Mignini L ; Slavotinek A ; Martin P M ; Sanchez H ; Sanchez L ; Ragab I ; Abram C L ; Broly M ; Abi Ayad Y Show All Authors

Moussavi Harami S F
Zinter M S
Motta M
Pannone L
Calligari P
Mignini L
Slavotinek A
Martin P M
Sanchez H
Sanchez L
Ragab I
Abram C L
Broly M
Abi Ayad Y
Serradj A
Boursier G
Bertoli Avella A M
Sadagopan M
Parvaneh N
Sedighzadeh S
Mirzaei E
Shahrooei M
Hsu A P
Holland S M
Bocchinfuso G
Stella L
Martinelli S
Reversade B
Tartaglia M
Lowell C A
Looney M R
Chan A Y

Source: The Journal of experimental medicine Published:2026

Abstract

Severe inflammatory lung disease, including acute respiratory distress syndrome (ARDS), is life-threatening with diverse causes and few targeted therapies. Inborn errors of immunity (IEIs) underlie a subset of cases. We describe a novel IEI caused by biallelic loss-of-function variants in PTPN6, encoding the immunoregulatory phosphatase SHP1. Seven children from five families developed early-onset anemia and severe inflammatory lung disease, at times presenting as ARDS. The causative variants were shown to destabilize SHP1 and abolish its phosphatase activity. These findings expand the genetic landscape of inflammatory lung disease and suggest SHP1 activation as a potential therapeutic strategy for immune-mediated pulmonary pathology. © 2026 Moussavi-Harami et al.

2. Human Inborn Errors of Immunity: 2024 Update on the Classification From the International Union of Immunological Societies Expert Committee, Journal of Human Immunity (2025)

Experts (# of related papers)

Nima Rezaei (1)

Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia

Style	Citing Format
MLA	Moussavi Harami S F, et al.. "Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia." The Journal of experimental medicine, vol. 223, no. 11, 2026, pp. -.
APA	Moussavi Harami S F, Zinter M S, Motta M, Pannone L, Calligari P, Mignini L, Slavotinek A, Martin P M, Sanchez H, Sanchez L, Ragab I, Abram C L, Broly M, Abi Ayad Y, Serradj A, Boursier G, Bertoli Avella A M, Sadagopan M, Parvaneh N, ... Chan A Y (2026). Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia. The Journal of experimental medicine, 223(11), -.
Chicago	Moussavi Harami S F, Zinter M S, Motta M, Pannone L, Calligari P, Mignini L, Slavotinek A, et al.. "Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia." The Journal of experimental medicine 223, no. 11 (2026): -.
Harvard	Moussavi Harami S F et al. (2026) 'Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia', The Journal of experimental medicine, 223(11), pp. -.
Vancouver	Moussavi Harami S F, Zinter M S, Motta M, Pannone L, Calligari P, Mignini L, et al.. Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia. The Journal of experimental medicine. 2026;223(11):-.
BibTex	@article{ author = {Moussavi Harami S F and Zinter M S and Motta M and Pannone L and Calligari P and Mignini L and Slavotinek A and Martin P M and Sanchez H and Sanchez L and Ragab I and Abram C L and Broly M and Abi Ayad Y and Serradj A and Boursier G and Bertoli Avella A M and Sadagopan M and Parvaneh N and Sedighzadeh S and Mirzaei E and Shahrooei M and Hsu A P and Holland S M and Bocchinfuso G and Stella L and Martinelli S and Reversade B and Tartaglia M and Lowell C A and Looney M R and Chan A Y}, title = {Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia}, journal = {The Journal of experimental medicine}, volume = {223}, number = {11}, pages = {-}, year = {2026} }
RIS	TY - JOUR AU - Moussavi Harami S F AU - Zinter M S AU - Motta M AU - Pannone L AU - Calligari P AU - Mignini L AU - Slavotinek A AU - Martin P M AU - Sanchez H AU - Sanchez L AU - Ragab I AU - Abram C L AU - Broly M AU - Abi Ayad Y AU - Serradj A AU - Boursier G AU - Bertoli Avella A M AU - Sadagopan M AU - Parvaneh N AU - Sedighzadeh S AU - Mirzaei E AU - Shahrooei M AU - Hsu A P AU - Holland S M AU - Bocchinfuso G AU - Stella L AU - Martinelli S AU - Reversade B AU - Tartaglia M AU - Lowell C A AU - Looney M R AU - Chan A Y TI - Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia JO - The Journal of experimental medicine VL - 223 IS - 11 SP - EP - PY - 2026 ER -

Style

Citing Format

MLA

Moussavi Harami S F, et al.. "Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia." The Journal of experimental medicine, vol. 223, no. 11, 2026, pp. -.

APA

Moussavi Harami S F, Zinter M S, Motta M, Pannone L, Calligari P, Mignini L, Slavotinek A, Martin P M, Sanchez H, Sanchez L, Ragab I, Abram C L, Broly M, Abi Ayad Y, Serradj A, Boursier G, Bertoli Avella A M, Sadagopan M, Parvaneh N, ... Chan A Y (2026). Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia. The Journal of experimental medicine, 223(11), -.

Chicago

Moussavi Harami S F, Zinter M S, Motta M, Pannone L, Calligari P, Mignini L, Slavotinek A, et al.. "Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia." The Journal of experimental medicine 223, no. 11 (2026): -.

Harvard

Moussavi Harami S F et al. (2026) 'Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia', The Journal of experimental medicine, 223(11), pp. -.

Vancouver

Moussavi Harami S F, Zinter M S, Motta M, Pannone L, Calligari P, Mignini L, et al.. Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia. The Journal of experimental medicine. 2026;223(11):-.

BibTex

@article{ author = {Moussavi Harami S F and Zinter M S and Motta M and Pannone L and Calligari P and Mignini L and Slavotinek A and Martin P M and Sanchez H and Sanchez L and Ragab I and Abram C L and Broly M and Abi Ayad Y and Serradj A and Boursier G and Bertoli Avella A M and Sadagopan M and Parvaneh N and Sedighzadeh S and Mirzaei E and Shahrooei M and Hsu A P and Holland S M and Bocchinfuso G and Stella L and Martinelli S and Reversade B and Tartaglia M and Lowell C A and Looney M R and Chan A Y}, title = {Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia}, journal = {The Journal of experimental medicine}, volume = {223}, number = {11}, pages = {-}, year = {2026} }

RIS

TY - JOUR
AU - Moussavi Harami S F
AU - Zinter M S
AU - Motta M
AU - Pannone L
AU - Calligari P
AU - Mignini L
AU - Slavotinek A
AU - Martin P M
AU - Sanchez H
AU - Sanchez L
AU - Ragab I
AU - Abram C L
AU - Broly M
AU - Abi Ayad Y
AU - Serradj A
AU - Boursier G
AU - Bertoli Avella A M
AU - Sadagopan M
AU - Parvaneh N
AU - Sedighzadeh S
AU - Mirzaei E
AU - Shahrooei M
AU - Hsu A P
AU - Holland S M
AU - Bocchinfuso G
AU - Stella L
AU - Martinelli S
AU - Reversade B
AU - Tartaglia M
AU - Lowell C A
AU - Looney M R
AU - Chan A Y
TI - Biallelic Loss-Of-Function Ptpn6 Variants Lead to Inflammatory Lung Disease and Hemolytic Anemia
JO - The Journal of experimental medicine
VL - 223
IS - 11
SP -
EP -
PY - 2026
ER -

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