The DOI matches its Crossref record; 35 of the 36 references it cites were found in a registry or an index.
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
Open accessAbstract
Familial hemophagocytic lymphohistiocytosis (HLH) is a rare primary immunodeficiency disorder characterized by defects in cell-mediated cytotoxicity that results in fever, hepatosplenomegaly, and cytopenias. Familial HLH is well recognized in children but rarely diagnosed in adults. We conducted a retrospective review of genetic and immunologic test results in patients who developed HLH in adulthood. Included in our study were 1531 patients with a clinical diagnosis of HLH; 175 patients were 18 years or older. Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). The preponderance of hypomorphic mutations in familial HLH–causing genes correlates with the later-onset clinical symptoms and the more indolent course in adult patients. We conclude that late-onset familial HLH occurs more commonly than was suspected previously.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Data from mouse models of HLH and patients with cytokine storm indicate that the inability of CTLs to kill efficiently leads to prolonged activation of T cells, triggering a cascade of inflammatory tissue damage.”
From Cytokine storm (2020) · cites this paper as [22]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
Amino Acid Difference Formula to Help Explain Protein Evolution
Grantham, R. L. (1974) · Science · doi:10.1126/science.185.4154.862 · Cited by 2,363
Human non-synonymous SNPs: server and survey
Ramensky, V. E. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,299
Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Stepp, S. E., Dufourcq-Lagelouse, R., Deist, F. L., Bhawan, S., Dogniaux, S., Mathew, P. A., Henter, J., Bennett, M., Fischer, A., Basile, G. D. S., et al. (1999) · Science · doi:10.1126/science.286.5446.1957 · Cited by 1,236
Feldmann, J., Callebaut, I., Raposo, G., Dogniaux, S., Bacq, D., Dumont, C., Lambert, N., Ouachée-Chardin, M., Chédeville, G., Tamary, H., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00855-9 · Cited by 935
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
Rigaud, S., Fondanèche, M., Lambert, N., Pasquier, B., Mateo, V., Soulas-Sprauel, P., Galicier, L., Deist, F. L., Rieux‐Laucat, F., Revy, P., et al. (2006) · Nature · doi:10.1038/nature05257 · Cited by 703
Stadt, U. Z. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi076 · Cited by 559
Aricò, M., Janka, G., Fischer, A., Henter, J., Blanche, S., Elinder, G., Martinetti, M., & Rusca, M. P. (1996) · PubMed · Cited by 468
Stadt, U. Z., Rohr, J., Seifert, W., Koch, F., Grieve, S., Pagel, J., Strauß, J., Kasper, B., Nürnberg, G., Becker, C., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.005 · Cited by 421
Hemophagocytic lymphohistiocytosis (HLH) and related disorders
Filipovich, A. H. (2009) · Hematology · doi:10.1182/asheducation-2009.1.127 · Cited by 400
Self-citation
Cited by
Sorted by citations
Items 301–400 of 419
Lee, W., Talaulikar, D., & Cook, M. (2020) · Internal Medicine Journal · doi:10.1111/imj.14891 · Cited by 2
Genetic diseases predisposing to HLH
Ehl, S. R., Marsh, R. A., & Basile, G. D. S. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-816768-7.00023-5 · Cited by 2
Self-citationCaldirola, M. S., Raccio, A. C. G., Giovanni, D. D., Gaillard, M. I., & Preciado, M. V. (2022) · Journal of Leukocyte Biology · doi:10.1002/jlb.5mr0622-037r · Cited by 2
Nagaraj, C. B., Brightman, D. S., Rea, H. M., Wakefield, E., Harkavy, N., Dyer, L. M., & Zhang, W. (2024) · BMC Pediatrics · doi:10.1186/s12887-023-04510-3 · Cited by 2
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis
Ozan, Z. K., Erduran, E., Ceylaner, S., Aslan, Y., Bahadır, A., Reis, G. P., & Mutlu, M. (2024) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000002906 · Cited by 2
History of Hemophagocytic Lymphohistiocytosis
Janka, G. (2019) · Springer eBooks · doi:10.1007/978-3-030-22094-5_1 · Cited by 2
Morbus Still – Ähnlichkeiten und Differenzen zwischen juveniler und adulter Form
Regel, A., Föll, D., & Kriegel, M. A. (2021) · Zeitschrift für Rheumatologie · doi:10.1007/s00393-021-01117-w · Cited by 2
Agbariah, N., Sanz, J., & Rovó, A. (2022) · Case Reports in Hematology · doi:10.1155/2022/5867129 · Cited by 2
Ce qu’il faut savoir sur le syndrome d’activation macrophagique en soins intensifs
Galicier, L. (2013) · Réanimation · doi:10.1007/s13546-013-0816-2 · Cited by 2
Beffermann, N., Pilcante, J., Mauricio Ocqueteau, T., & Mauricio Sarmiento, M. (2015) · Revista médica de Chile · doi:10.4067/s0034-98872015000900010 · Cited by 2
Immunodeficiency diagnosis: a Mondrian or Pollock scenario?
Pignata, C., & Giardino, G. (2011) · Blood · doi:10.1182/blood-2011-09-379065 · Cited by 2
Specyfika występowania limfohistiocytozy hemofagocytarnej w okresie wieku dorosłego
Machaczka, M. (2013) · Acta Haematologica Polonica · doi:10.1016/j.achaem.2013.07.020 · Cited by 2
Rosée, P. G. L., Schenk, T., Kunert, C., & Hochhaus, A. (2013) · Journal of Laboratory Medicine · doi:10.1515/labmed-2013-0013 · Cited by 2
Between a rock and a hard place
Suvorava, N., Richmond, S., Patel, N., Bell, B., & Mesa, H. A. (2015) · American Journal of Hematology · doi:10.1002/ajh.24260 · Cited by 2
Systemic Epstein-Barr Virus–Positive T-Cell Lymphoproliferative Disease of Childhood
Leeborg, N. J., Russell, T. B., & Chi, G. F. (2012) · Pathology Case Reviews · doi:10.1097/pcr.0b013e318258eeba · Cited by 2
Rzadkie choroby makrofagów u dorosłych
Machaczka, M., & Klimkowska, M. (2016) · Acta Haematologica Polonica · doi:10.1016/j.achaem.2016.04.006 · Cited by 2
Macrophage Activation Syndrome
Iweala, O. I., & Wu, E. Y. (2018) · Rare rheumatic diseases · doi:10.1007/978-3-319-99139-9_1 · Cited by 2
Murine Models of Secondary Cytokine Storm Syndromes
Brisse, E., Wouters, C. H., & Matthys, P. (2019) · Springer eBooks · doi:10.1007/978-3-030-22094-5_29 · Cited by 2
CD8+ T Cell Biology in Cytokine Storm Syndromes
Sekine, T., Galgano, D., Casoni, G. P., Meeths, M., & Bryceson, Y. T. (2019) · Springer eBooks · doi:10.1007/978-3-030-22094-5_9 · Cited by 2
Hemophagocytic lymfohistiocytosis in adults: review and case report
Šrámek, J., Karvunidis, T., Lysák, D., Harazim, M., Karas, M., & Jindra, P. (2018) · Vnitřní lékařství · doi:10.36290/vnl.2018.041 · Cited by 2
Differential Diagnosis of Hemophagocytic Syndrome by 18F-FDG PET/CT: A Meta-Analysis
Zhang, J., He, B., Wang, J., Ying, C., Zeng, L., & Zheng, S. (2022) · Journal of Healthcare Engineering · doi:10.1155/2022/4448993 · Cited by 2
RetractedHemophagocytic Lymphohistiocytosis
Park, S. Y., & Lee, J. M. (2017) · Imsang soa hyeoraek jong-yang/Imsang soa hyeol'aeg jong'yang/Clinical pediatric hematology-oncology · doi:10.15264/cpho.2017.24.1.11 · Cited by 2
Croden, J., Bilston, L., Taparia, M. S., Grossman, J. K., & Sun, H. (2022) · Annals of Hematology · doi:10.1007/s00277-022-04960-2 · Cited by 2
Limfohistiocytoza hemofagocytarna u dzieci
Wołowiec, M., & Malinowska, I. (2016) · Acta Haematologica Polonica · doi:10.1016/j.achaem.2016.10.001 · Cited by 2
Hemophagocytic lymphohistiocytosis: A serious challenge for every physician
Janka, G. (2014) · Revista Clínica Española · doi:10.1016/j.rce.2014.05.011 · Cited by 2
Management of Adult Onset Familial Hemophagocytic Lymphohistiocytosis (FHL): A Dilemma
Madkaikar, M. R. (2018) · Haematology International Journal · doi:10.23880/hij-16000124 · Cited by 1
Christensen, B. R., Kou, C.-T. J., & Lee, L. E. (2024) · Cureus · doi:10.7759/cureus.56237 · Cited by 1
Criteria for Cytokine Storm Syndromes
Minoia, F., & Ravelli, A. (2024) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-59815-9_6 · Cited by 1
Hemophagocytic lymphohistiocytosis: literature review and clinical case
Manaenkov, D. A., Галицына, А. Б., Falaleeva, N. A., Shuvaev, V. A., Vovchenko, A. A., & Иванов, С. А. (2025) · MD-Onco · doi:10.17650/2782-3202-2024-4-4-100-106 · Cited by 1
Unveiling the Expression of UNC13C in Brain and Glioblastoma Cells
Seven, D., Dalan, A. B., & Bayrak, Ö. F. (2025) · Clinical and Experimental Health Sciences · doi:10.33808/clinexphealthsci.1573250 · Cited by 1
Sharma, S., Basu, S., Goyal, T., Sharma, M., Barman, P., Kaur, G., Shandilya, J. K., Vignesh, P., Pilania, R. K., Jindal, A. K., et al. (2025) · Journal of Clinical Immunology · doi:10.1007/s10875-025-01895-x · Cited by 1
Genetic characteristics of primary bone marrow large B-cell lymphoma
Yeh, Y., Chang, K., Hsu, C., & Yang, C. (2025) · Pathology - Research and Practice · doi:10.1016/j.prp.2025.156157 · Cited by 1
Çakır, İ. Y., Erden, A., Bölek, E. Ç., Mulayim, M. F., Duran, R., Karaduman, İ., Eseroğlu, E., Karakaya, B., Köksoy, B., Babazade, A., et al. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04296-4 · Cited by 1
Cahill, H., Wynn, R. F., & Senthil, S. (2026) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2026.2691043 · Cited by 1
When to consider an inborn error of immunity: clues for physicians
Thangarajah, M., & Berglund, L. J. (2026) · Internal Medicine Journal · doi:10.1111/imj.70505 · Cited by 1
Syndrome d’activation lymphohistiocytaire
Galicier, L. (2013) · Références en médecine d'urgence · doi:10.1007/978-2-8178-0350-0_10 · Cited by 1
Hemophagocytic Lymphohistiocytosis in Adults: Overview, Diagnosis, and Treatment
Kim, D. (2015) · Korean Journal of Medicine · doi:10.3904/kjm.2015.88.5.525 · Cited by 1
The many faces of hemophagocytic lymphohistiocytosis — a challenge in diagnosis and therapy
Moshous, D. (2014) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2014.05.030 · Cited by 1
Hemophagocytic Lymphohistiocytosis: Diagnosis and Management Challenges
Henry, M. M., & Arceci, R. J. (2016) · Springer eBooks · doi:10.1007/978-3-319-30352-9_52 · Cited by 1
Treatment of Newly Diagnosed HLH and Refractory Disease
Henter, J., Marsh, R. A., & Greenwood, T. V. B. (2017) · Springer eBooks · doi:10.1007/978-3-319-59632-7_14 · Cited by 1
Self-citationImmunology of Cytokine Storm Syndromes: Natural Killer Cells
French, A. R., & Cooper, M. A. (2019) · Springer eBooks · doi:10.1007/978-3-030-22094-5_10 · Cited by 1
Song, M., Ni, F., Gao, X., Wang, J., Tian, T., Duan, L., Pan, S., & Qiu, H. (2017) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2017.05.016 · Cited by 1
[Hemophagocytic lymphohistiocytosis: advances on etiologies, diagnosis and treatment].
Wang, D., & Qiu, H. (2017) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2017.03.020 · Cited by 1
Cirotski, D. S., Cunningham, M. T., Loew, T. H., & Panicker, J. (2022) · Pediatric Hematology and Oncology · doi:10.1080/08880018.2022.2055246 · Cited by 1
Late-onset Familial Hemophagocytic Lymphohistiocytosis in a survivor of Hodgkin's Lymphoma
Samar, M. R., Shoaib, D., Zehra, N. E., & Moosajee, M. (2023) · Leukemia Research Reports · doi:10.1016/j.lrr.2023.100394 · Cited by 1
Q fever, a rare cause of secondary hemophagocytic lymphohistiocytosis
Salceda, J. F. N., Cuesta, P. L., Aristegui, S. H. D. M., Fernández-Suárez, J., Carbajal, C. M., & Clemente, M. M. G. (2023) · PubMed Central · doi:10.3205/id000085 · Cited by 1
Pešić, A., Vuković, V., Kozarac, S., Otašević, V., Bibic, T., Mihaljević, B., & Antic, D. A. (2024) · Journal of Medical Biochemistry · doi:10.5937/jomb0-48290 · Cited by 1
Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis
Grom, A. A. (2024) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-59815-9_9 · Cited by 1
Cytokines: Role in Homeostasis and Disease States
Prell, R. A., & Tarrant, J. M. (2017) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.64237-x · Cited by 1
Macrophage Activation Syndrome in Rheumatic Diseases (MAS-HLH)
Grom, A. A., Horne, A., & Benedetti, F. D. (2017) · Springer eBooks · doi:10.1007/978-3-319-59632-7_13 · Cited by 1
Ono, K., Murata, K., Miyazaki, A., Tachibana, N., Nakamura, T., Nishimura, R., Yachie, A., Kawa, K., & Shiobara, S. (2018) · Annals of Hematology · doi:10.1007/s00277-018-3306-9 · Cited by 1
Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis
Grom, A. A. (2019) · Springer eBooks · doi:10.1007/978-3-030-22094-5_8 · Cited by 1
Wang, Y. N., Wang, J. S., Wei, N., Wu, L., Jin, Z., & Wang, Z. (2020) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2020.06.014 · Cited by 1
Zhuo, W., Hao, D., Tong, Y. Q., Wu, W., Bao, S., Huang, K., Yu, L., Zhu, H., & Sun, Z. (2021) · Annals of Palliative Medicine · doi:10.21037/apm-21-68 · Cited by 1
Naviglio, S., Zanella, G., Verzegnassi, F., Kiren, V., Giurici, N., Sieni, E., Coniglio, M. L., Valencic, E., Tommasini, A., & Rabusin, M. (2021) · Pediatric Blood & Cancer · doi:10.1002/pbc.29404 · Cited by 1
The R156H variation in IL-12Rβ1 is not a mutation
van de Vosse, E., van Dissel, J. T., Palamaro, L., Giardino, G., Santamaria, F., Romano, R., Fusco, A., Montella, S., Salerno, M., Ursini, M. V., et al. (2013) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/1824-7288-39-12 · Cited by 1
Genetic, cellular and clinical studies of hemophagocytic lymphohistiocytosis
Meeths, M. (2012) · Figshare
FUNCTIONAL ASSAYS FOR THE DIAGNOSIS OF PRIMARY DEFECTS IN LYMPHOCYTE CYTOTOXICITY
Chiang, S. C. C. (2015) · Open Archive (Karolinska Institutet)
Machaczka, M. (2014) · Revista Clínica Española · doi:10.1016/j.rce.2014.05.006
A Case of Hemophagocytic Lymphohistiocytosis in a Patient with Rheumatoid Arthritis
Choi, I. A., Lee, E. Y., Lee, E. B., & Song, Y. W. (2014) · Korean Journal of Medicine · doi:10.3904/kjm.2014.86.3.372
McClain, K. L. (2012) · Blood · doi:10.1182/blood-2012-04-422485
Syndromes d’activation lymphohistiocytaire constitutionnels
Moshous, D., Cros, G., Héritier, S., Chomton, M., Neven, B., Pïcard, C., Basile, G. D. S., Fischer, A., & Blanche, S. (2013) · Revue d Oncologie Hématologie Pédiatrique · doi:10.1016/j.oncohp.2013.09.003
Immunohistology of Leukemia Cutis and Histiocytic Tumors
Fernández‐Figueras, M. T., Tapia, G., Mate, J. L., & Ariza, A. (2016) · Springer eBooks · doi:10.1007/978-3-319-30590-5_11
Familial Hemophagocytic Lymphohistiocytosis Type 5 Due To Novel STXBP2 Gene Mutation: A Case Report
Giri, P. P., & Ghosh, A. K. (2015)
Urrea, R., Astigarraga, I., Fernández‐Teijeiro, A., Rodríguez-Sáinz, C., Alonso-Martinez, M., Martin-Martin, L., García‐Obregón, S., & Gil-Herrera, J. (2017) · LymphoSign Journal · doi:10.14785/lymphosign-2017-0006
A Fatal Case of Pyrexia of Unknown Origin: Hemophagocytic Lymphohistiocytosis?
Bhuta, P., Patel, A., Yadav, L., Patel, U., Kosamia, V., & Muley, A. (2017) · Journal of Postgraduate Medicine Education and Research · doi:10.5005/jp-journals-10028-1261
Cave! Wichtige Differenzialdiagnose bei unklarem Fieber
Birndt, S., Schenk, T., & Rosée, P. G. L. (2018) · Im Focus Onkologie · doi:10.1007/s15015-018-3759-7
Atteinte rénale du syndrome d’activation macrophagique
Karras, A. (2018) · Médecine Intensive Réanimation · doi:10.3166/rea-2018-0041
Macrophage Activation Syndrome (MAS)
Mehta, B. Y., & Efthimiou, P. (2019) · Springer eBooks · doi:10.1007/978-3-319-96929-9_14
Síndromes hemofagocíticos, síndrome de activación macrofágica
Papo, T. (2019) · EMC - Tratado de Medicina · doi:10.1016/s1636-5410(19)41986-7
Ashok, V., Kent, P. M., Tamulonis, K., & Vavra, K. (2019) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000001531
Criteria for Cytokine Storm Syndromes
Minoia, F., Davì, S., Alongi, A., & Ravelli, A. (2019) · Springer eBooks · doi:10.1007/978-3-030-22094-5_5
A case of Still’s disease which complicated with macrophage activation syndrome
Karimifar, M., Karimifar, M., & Sanei, M. H. (2019) · Journal of Renal Endocrinology
Meshramm, N. B., Gadkari, R. U., & Kamal, F. A. (2020) · Journal of Evidence Based Medicine and Healthcare · doi:10.18410/jebmh/2020/517
Infective, Granulomatous and Benign Histiocytic Disorders
Tzankov, A. (2020) · Cambridge University Press eBooks · doi:10.1017/9781316535042.006
Identifying Novel Genomic Variants in Hemophagocytic Lymphohistiocytosis in Adults
Ceremsak, J. J. (2021) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)
Diseases of Immune Dysregulation
Proietti, M. (2021) · Rare diseases of the immune system · doi:10.1007/978-3-030-70107-9_9
Sepulveda, F. E., Maschalidi, S., & Basile, G. D. S. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-374279-7.18011-7
Natarajan, K., Jacob, S., Prasad, S., Pandurangan, P., & Palaniswamy, K. R. (2022) · Gastroenterology Hepatology and Endoscopy Practice · doi:10.4103/ghep.ghep_33_21
Thomsen, M. M., Heinz, J., Hollensen, A. K., Carter-Timofte, M. E., Fisker, N., Zhang, B., Paludan, S. R., Assing, K., & Mogensen, T. (2022) · Research Square · doi:10.21203/rs.3.rs-1804624/v1
14 Hämophagozytische Lymphohistiozytose (HLH)
Birndt, S., Rosée, P. G. L., & Beutel, G. (2022) · De Gruyter eBooks · doi:10.1515/9783110673395-014
Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome
Gans, H. A., & Lewis, D. B. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-75608-2.00012-4
Xu, T., Tang, L. V., & Xiong, L. (2022) · Research Square · doi:10.21203/rs.3.rs-2374660/v1
Imashuku, S., Erdös, M., Al–Herz, W., Bemanian, M. H., Kanegane, H., Maródi, L., Mohammadinejad, P., Rosenzweig, S. D., & Aghamohammadi, A. (2012) · Springer eBooks · doi:10.1007/978-3-642-31785-9_5
Abou‐El‐Hassan, H., Kantono, M., Bhagat, A., Hu, J., Karp, D., Jerome, R., Randhawa, J. S., Shafer, D., & Farmand, F. (2023) · Cureus · doi:10.7759/cureus.36199
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation
Xin, X., Wang, N., & Zhang, Y. (2023) · The American Journal of the Medical Sciences · doi:10.1016/j.amjms.2023.07.005
Yu, M. Z., Wu, L., Zhang, J., Wang, J. S., Wang, Y. N., & Wang, Z. (2023) · PubMed Central · doi:10.3760/cma.j.issn.0253-2727.2023.07.009
Síndromes hemofagocíticos vs. linfohistiocitosis hemofagocítica
Arzuaga‐Méndez, J., & García‐Ruiz, J. C. (2023) · Revista Sangre · doi:10.24875/sangre.23000007
Hemophagocytic syndromes vs. hemophagocytic lymphohistiocytosis
Arzuaga‐Méndez, J., & García‐Ruiz, J. C. (2023) · Revista Sangre (ENG) · doi:10.24875/sangree.m23000014
Hemophagocytic Lymphohistiocytosis
Movsisyan, A., Hambardzumyan, L., Badikyan, M., Petrosyan, M., Minasyan, M., Avagyan, A., Simonyan, J., Ivanenko, A., Bardakhchyan, S., & Tamamyan, G. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-15717-2.00021-4
Familial Hemophagocytic Lymphohistiocytosis Type 2 Presenting With Isolated Facial Palsy
Zou, T., Wei, A., Ma, H., Zhao, Y., Lian, H., Li, Z., Wang, D., Wang, T., & Zhang, R. (2023) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000002767
Diagnosis and Treatment of Adult Hemophagocytic Syndrome
高, 柯. (2024) · Advances in Clinical Medicine · doi:10.12677/acm.2024.1451443
Hemophagocytic Leucocytoclastic Histiocytosis: A Rare Case Report
Surya, S. A. (2024) · International Journal of Science and Research (IJSR) · doi:10.21275/sr24524061403
Immunology of Cytokine Storm Syndromes: Natural Killer Cells
French, A. R., Cron, R. Q., & Cooper, M. A. (2024) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-59815-9_11
Marchetti, G., Suardi, L., Tiseo, G., Ricco, V. F. D., Riccardi, N., Rindi, L., & Falcone, M. (2024) · Diagnostic Microbiology and Infectious Disease · doi:10.1016/j.diagmicrobio.2024.116528
Cytokines: Role in Homeostasis and Disease States
Engström, A., Davies, J., & Kim, Y.-M. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-95488-4.00042-5
Zaucha, J. M., Mital, A., Taszner, M., Ogłoza, A., Zaucha, J. M., & Machowicz, R. (2025) · Annals of Hematology · doi:10.1007/s00277-025-06599-1
Genomic correlates of clinical CAR T cell activity
Leick, M. B., Sun, B., Birocchi, F., Gallagher, K., Bratt, A., Han, S., Martin, G. A., Silva, H. J., Larson, R. C., Chinsky, T. M., et al. (2026) · Science Immunology · doi:10.1126/sciimmunol.aef4134 · Cited by 2
Metadata
- Authors
- Zhang, K., Jordan, M. B., Marsh, R. A., Johnson, J. A., Kissell, D., Meller, J., Villanueva, J., Risma, K. A., Wei, Q., Klein, P. S., & Filipovich, A. H.
- Affiliations
- Division of Human Genetics,
- Division of Immunobiology,
- Division of Bone Marrow Transplant and Immune Deficiency,
- Department of Environmental Health and Biomedical Engineering,
- Diagnostic Immunology Laboratory, and
- Cincinnati Children's Hospital Medical Center (US)
- Duke University (US)
- University of Pennsylvania (US)
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2011-11-24
- Volume
- 118
- Issue
- 22
- Pages
- 5794-5798
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC3228496
- OpenAlex
- W2013522127
- Cited by
- 428
- References
- 36
- Citations by year
- 2026: 19 · 2025: 21 · 2024: 25 · 2023: 26 · 2022: 30 · 2021: 31 · 2020: 37 · 2019: 32 · 2018: 25 · 2017: 32 · 2016: 28 · 2015: 45 · 2014: 35 · 2013: 21 · 2012: 16
- FWCI
- 16.85
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Histiocytosis Association
- National Heart, Lung, and Blood Institute (R01HL091769, HL091769)
- Topics
- Health Sciences › Medicine › Hematology › Autoimmune and Inflammatory Disorders Research
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Inflammasome and immune disorders
- Keywords
- familial hemophagocytic lymphohistiocytosis, adult-onset HLH, PRF1, Munc13-4, STXBP2, hypomorphic mutation, missense mutations, splice site mutation, primary immunodeficiency, late-onset disease
- MeSH terms
- Adolescent, Adult, Aged, DNA Mutational Analysis, Female, Gene Frequency, Humans, Male, Membrane Proteins, Middle Aged, Mutation, Age of Onset, Lymphohistiocytosis, Hemophagocytic, Munc18 Proteins, Pore Forming Cytotoxic Proteins, Perforin, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review