Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak Higashi syndrome
Facial cutaneous pigmentation pattern helps differentiate between Griscelli syndrome and Chediak Higashi […]
Disorders associated with Innate Immunity
Suspected Mendelian Susceptibility to Mycobacterial Disease (MSMD): A Case Series
Introduction: MSMD is caused by congenital errors in the immunity of the
Suspected Mendelian Susceptibility to Mycobacterial Disease (MSMD): A Case Series Read More »
Association of the rs371194629 variant of the HLA-G gene and clinical characteristics in patients with common variable immunodeficiency in western Mexico
Introduction: Common variable immunodeficiency (CVID) encompasses inborn errors of immunity, being a
“IL12Rβ1 DEFICIENCY, AUTOIMMUNITY AND SEVERE LYMPHOPENIA”
INTRODUCTION IL12Rβ1 deficiency ranks as the most common form of Mendelian susceptibility
“IL12Rβ1 DEFICIENCY, AUTOIMMUNITY AND SEVERE LYMPHOPENIA” Read More »
A first report of disseminated Coccidioidomycosis in a patient with autosomal dominant STAT1 deficiency.
STAT1 is a transcription factor that modulates cellular responses to interferon. This
Immunodeficiency and autoimmunity; Long-term follow-up of a patient with PIK3CD gene mutation associated to monogenic lupus: case report
INTRODUCTION PIK3CD syndrome results from gain of function (GOF) in the genes
Mendelian Susceptibility to Mycobacterial Disease: Retrospective clinical and genetic study in Mexico.
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a defect in intrinsic and
Role of PI3K-MEK-ERK1/2 pathway activation in regulation of STAT5b-deficient NK cell function in response to IL-2.
Background: Mutations in the Signal Transducer and Activator of Transcription (STAT)5b, are
