Paper · 198660

Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.

Purtilo DT and 6 others. N Engl J Med, 1977. Cited by 222 papers, by iCite.

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ConductScience Library. Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. Papers, record 198660. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/198660

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.; PubMed
Journal: N Engl J Med; PubMed
Year: 1977; PubMed
Publication types: Journal Article, Research Support, U.S. Gov't, P.H.S.; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/198660/; PubMed
DOI: https://doi.org/10.1056/nejm197711172972001; PubMed
The journal: https://conductscience.org/library/journal-index/0255562; PubMed
Citations, by iCite: 222; iCite
Relative citation ratio, by iCite: 6.12; iCite
Revised in PubMed: 2010-11-18; PubMed

Authors7

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename
1	Purtilo DT	D T
2	DeFlorio D Jr	D
3	Hutt LM	L M
4	Bhawan J	J
5	Yang JP	J P
6	Otto R	R
7	Edwards W	W

Source PubMed

Topics20

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Hematologic Diseases	Major topic
Immunologic Deficiency Syndromes	Major topic
Lymphoma	Major topic
Sex Chromosomes	Major topic
X Chromosome	Major topic
Adolescent
B-Lymphocytes
Burkitt Lymphoma
Child
Child, Preschool
Female
Genes, Recessive
Genetic Linkage
Herpesvirus 4, Human
Humans
Infant
Infant, Newborn
Infectious Mononucleosis
Male
Pedigree

Source PubMed

Grants0

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

None in this release.

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References0

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

None in this release.

Cited by43

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 222 citations.

PMID	Title	Journal	Year	In Papers	Source
40,894,400	Case Report: Hemophagocytic lymphohistiocytosis associated with NBAS gene variant and Epstein-Barr virus (EBV) infection.	Front Pediatr	2025	https://conductscience.org/library/papers/40894400	PubMed
39,117,809	Genetics of Primary Hemophagocytic Lymphohistiocytosis.	Adv Exp Med Biol	2024	https://conductscience.org/library/papers/39117809	PubMed
37,426,667	Approaching hemophagocytic lymphohistiocytosis.	Front Immunol	2023	https://conductscience.org/library/papers/37426667	PubMed
35,985,287	From rare disorders of immunity to common determinants of infection: Following the mechanistic thread.	Cell	2022	https://conductscience.org/library/papers/35985287	PubMed
32,289,233	Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories.	Annu Rev Pathol	2021	https://conductscience.org/library/papers/32289233	PubMed
26,621,750	Severe infectious diseases of childhood as monogenic inborn errors of immunity.	Proc Natl Acad Sci U S A	2015	https://conductscience.org/library/papers/26621750	PubMed
26,424,649	Primary Immunodeficiencies Associated with EBV Disease.	Curr Top Microbiol Immunol	2015	https://conductscience.org/library/papers/26424649	PubMed
23,589,280	Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms.	Pediatr Blood Cancer	2013	https://conductscience.org/library/papers/23589280	PubMed
23,398,237	Fulminant hemophagocytic lymphohistiocytosis secondary to a reactivated EBV infection: a case report.	Ups J Med Sci	2013	https://conductscience.org/library/papers/23398237	PubMed
23,300,447	An Epstein-Barr virus encoded inhibitor of Colony Stimulating Factor-1 signaling is an important determinant for acute and persistent EBV infection.	PLoS Pathog	2012	https://conductscience.org/library/papers/23300447	PubMed

1 to 10 of 43

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Genes0

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

None in this release.

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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