Top

Journal of Clinical Immunology

Published in:

01-01-2021 | Pneumonia | Letter to Editor

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient

Authors: Fahad Alsohime, Talal Almaghamsi, Talal A. Basha, Hosam Alardati, Malak Alghamdi, Yousef Mohammed Hawsawi

Published in: Journal of Clinical Immunology | Issue 1/2021

Excerpt

To the editor, …

Campo E, Harris NL. WHO classification of tumours of haematopoietic and lymphoid tissues. Revised 4th ed. Lyon: International Agency for Research on Cancer; 2017.

Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286:1957–9. https://doi.org/10.1126/science.286.5446.1957.CrossRefPubMed

Henter JI, Horne A, Arico M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124–31.CrossRef

Seguin A, Galicier L, Boutboul D, Lemiale V, Azoulay E. Pulmonary involvement in patients with hemophagocytic lymphohistiocytosis. Chest. 2016;149:1294–301. https://doi.org/10.1016/j.chest.2015.11.004.CrossRefPubMed

Kim R, Meyer KC. Therapies for interstitial lung disease: past, present and future. Ther Adv Respir Dis. 2008;2:319–38. https://doi.org/10.1177/1753465808096948.CrossRefPubMed

Sumegi J, Nestheide SV, Barnes MG, Villanueva J, Zhang K, Grom AA, et al. Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis. Blood. 2013;121(7):e14–24. https://doi.org/10.1182/blood-2012-05-425769.CrossRefPubMedPubMedCentral

Molleran Lee, Villanueva J, Sumegi J, Zhang K, Kogawa K, Davis J, et al. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet. 2004;41:137–44. https://doi.org/10.1136/jmg.2003.011528.CrossRefPubMed

Okur H, Balta G, Akarsu N, Oner A, Patiroglu T, Bay A, et al. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations. Leuk Res. 2008;32(6):972–5. https://doi.org/10.1016/j.leukres.2007.11.033.CrossRefPubMed

Schulert GS, Zhang M, Fall N, Husami A, Kissell D, Hanosh A, et al. Whole-exome sequencing reveals mutations in genes linked to hemophagocytic lymphohistiocytosis and macrophage activation syndrome in fatal cases of H1N1 influenza. J Infect Dis. 2016;213:1180–8. https://doi.org/10.1093/infdis/jiv550.CrossRefPubMed

10.

de Kerguenec C, Hillaire S, Molinié V, Gardin C, Degott C, Erlinger S, et al. Hepatic manifestations of hemophagocytic syndrome: a study of 30 cases. Am J Gastroenterol. 2001;96:852–7. https://doi.org/10.1111/j.1572-0241.2001.03632.x.CrossRefPubMed

11.

Henter JI, Nennesmo I. Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis. J Pediatr. 1997;130:358–65. https://doi.org/10.1016/s0022-3476(97)70196-3.CrossRefPubMed

12.

Nishikawa T, Okamoto Y, Tanabe T, Shinkoda Y, Kodama Y, Kakihana Y, et al. Acute respiratory distress syndrome as an initial presentation of hemophagocytic lymphohistiocytosis after induction therapy for acute myeloid leukemia. Pediatr Hematol Oncol. 2011;28:244–8. https://doi.org/10.3109/08880018.2010.514038.CrossRefPubMed

13.

Buyse S, Teixeira L, Galicier L, Mariotte E, Lemiale V, Seguin A, et al. Critical care management of patients with hemophagocytic lymphohistiocytosis. Intensive Care Med. 2010;36:1695–702. https://doi.org/10.1007/s00134-010-1936-z.CrossRefPubMed

14.

Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, et al. International management platform for children’s interstitial lung disease (chILD-EU). Thorax. 2018;73:231–9. https://doi.org/10.1136/thoraxjnl-2017-210519.CrossRefPubMed

15.

Rogers BB, Browning I, Rosenblatt H, McClain K, Kemp J, Glasser LL, et al. A familial lymphoproliferative disorder presenting with primary pulmonary manifestations. Am Rev Respir Dis. 1992;145:203–8. https://doi.org/10.1164/ajrccm/145.1.203.CrossRefPubMed

16.

Franchi LM, Chin TW, Nussbaum E, Riker J, Robert M, Talbert WM. Familial pulmonary nodular lymphoid hyperplasia. J Pediatr. 1992;121:89–92. https://doi.org/10.1016/s0022-3476(05)82550-8.CrossRefPubMed

17.

Church JA, Isaacs H, Saxon A, Keens TG, Richards W. Lymphoid interstitial pneumonitis and hypogammaglobulinemia in children. Am Rev Respir Dis. 1981;124:491–6. https://doi.org/10.1164/arrd.1981.124.4.491.CrossRefPubMed

18.

Andiman W, Shearer W. Lymphoid interstitial pneumonitis. In: Pizzo P, Wilfert C, editors. Pediatr. AIDS Chall. HIV Infect. Infants Child. Adolesc. 3rd ed. Baltimore: Lippincott Williams & Wilkins; 1998. p. 323.

19.

House IG, Thia K, Brennan AJ, Tothill R, Dobrovic A, Yeh WZ, et al. Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals. Immunol Cell Biol. 2015;93:575–80. https://doi.org/10.1038/icb.2015.1.CrossRefPubMed

Title: Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
Authors: Fahad Alsohime
Talal Almaghamsi
Talal A. Basha
Hosam Alardati
Malak Alghamdi
Yousef Mohammed Hawsawi
Publication date: 01-01-2021
Publisher: Springer US
Keywords: Pneumonia
Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis
Published in: Journal of Clinical Immunology / Issue 1/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-020-00870-y

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient

Excerpt

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 1/2021

Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation

Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)

Haematopoietic Stem Cell Transplantation for DNA Ligase 1 Deficiency

Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia

Common Variable Immunodeficiency with the Concomitant Diagnosis of an Inflammatory Myofibroblastic Tumor

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page