CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Disease: Neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 Biomarker disease BEFREE Life-threatening infections (42.5%), caused by various pathogens, were the most serious threats faced by CD40L-deficient patients, while neutropenia (57.5%) remained the most common complication. 31179555 2019
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 GeneticVariation disease BEFREE We describe a unique hemizygous CD40LG mutation which was discovered in a 12-year-old boy with chronic severe neutropenia, a normal IgG level, and absence of sinopulmonary or opportunistic infections. 22322937 2012
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 GeneticVariation disease BEFREE Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. 18594157 2008
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 Biomarker disease BEFREE Clinical course and HIGM phenotype was indistinguishable from that of male HIGM1 including severe neutropenia. 16311023 2006
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 AlteredExpression disease BEFREE Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. 9894727 1998
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 Biomarker disease BEFREE Thus, it is possible that both the neutropenia and the NK cell deficiency are due to lack of growth-promoting signals normally delivered by the CD40 ligand. 9030857 1997
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.160 Biomarker disease HPO