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Last Updated: 02/24/2026

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Found 295 publications

X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.

X-linked lymphoproliferative disease type 1 (XLP1) due to a "de novo" missense SH2D1A Hemizygous Mutation Leading to Predominantly Antibody Deficiency.

Journal: Research square
Published: December 31, 2025

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Glycogen storage disorder-mimicking presentation of X-linked lymphoproliferative syndrome (XLP).

Journal: BMJ case reports
Published: December 31, 2025

X-linked lymphoproliferative disease with initial onset of neurological symptoms: a case and literature review.

X-linked lymphoproliferative disease with initial onset of neurological symptoms: a case and literature review.

Journal: Frontiers in immunology
Published: August 01, 2025

The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.

The neurologic face of X-linked lymphoproliferative syndrome type 1: a systematic review.

Journal: Orphanet journal of rare diseases
Published: July 22, 2025

X-linked lymphoproliferative syndrome type 1 presenting as DRESS-HLH overlap syndrome.

X-linked lymphoproliferative syndrome type 1 presenting as DRESS-HLH overlap syndrome.

Journal: BMJ case reports
Published: July 07, 2025

X-linked Lymphoproliferative Disease Type 1 Presenting as Lymphoma in a Male Patient With Atypical Common Variable Immunodeficiency Features: A Case of Delayed Diagnosis.

X-linked Lymphoproliferative Disease Type 1 Presenting as Lymphoma in a Male Patient With Atypical Common Variable Immunodeficiency Features: A Case of Delayed Diagnosis.

Journal: Cureus
Published: June 26, 2025

Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

Journal: Pediatric dermatology
Published: May 06, 2025

X-linked lymphoproliferative disease type 1: a clinical and genetic update.

X-linked lymphoproliferative disease type 1: a clinical and genetic update.

Journal: Frontiers in immunology
Published: April 29, 2025

Hemophagocytic lymphohistiocytosis of the ocular adnexal mimicking orbital cellulitis in a patient with unknown X-linked lymphoproliferative syndrome type 1 (XLP1): Case report and literature review.

Hemophagocytic lymphohistiocytosis of the ocular adnexal mimicking orbital cellulitis in a patient with unknown X-linked lymphoproliferative syndrome type 1 (XLP1): Case report and literature review.

Journal: Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
Published: April 29, 2025

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.

Journal: Frontiers in immunology
Published: March 28, 2025

X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.

X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.

Journal: Pediatric blood & cancer
Published: October 31, 2024

Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.

Genetic analysis of a female patient with X-linked lymphoproliferative disease type 2: a case report.

Journal: Journal of medical case reports
Published: May 16, 2024
Showing 1-12 of 295

Last Updated: 02/24/2026