Combined Immunodeficiencies
Ruxolitinib for chronic GVHD after BMT in a patient with SCID: Case Report
Introduction: SCID is a medical emergency with the indication for early marrow
Ruxolitinib for chronic GVHD after BMT in a patient with SCID: Case Report Read More »
Chronic aseptic osteomyelitis, cavitated lung disease, and eosinophilia as manifestations of a heterozygous pathogenic variant of RAG1. Case report.
INTRODUCTION RAG1 and RAG2 genes encode proteins that initiate VDJ recombination to
Expansion of the CTLA-4 haploinsufficiency phenotype. Report of twins presenting a novel mutation.
Introduction CTLA-4 is a critical inhibitory checkpoint molecule of immune activation. Patients
Consequences of delayed diagnosis of CVID, a case report
Introduction: Common variable immunodeficiency (CVID) is the most prevalent inborn error immunity
Consequences of delayed diagnosis of CVID, a case report Read More »
Canada-U.S.A-Mexico Collaboration: Closing the Gap in Awareness, Diagnosis, and Management for CD3δ Severe Combined Immune Deficiency; a Step Toward Implementing a Gene Therapy Trial.
Introduction CD3δ Severe Combined Immune Deficiency (SCID), is a devastating inborn error
NOVEL IL2RG MUTATION IN A PATIENT WITH SCID-X1
10-month-old male patient, two healthy sisters, history of BCG vaccine, 4 month
NOVEL IL2RG MUTATION IN A PATIENT WITH SCID-X1 Read More »
Identificación de los factores de riesgo para infección por citomegalovirus en pacientes con inmunodeficiencia combinada grave en un hospital de tercer nivel
Introducción. La inmunodeficiencia combinada grave (SCID) es un error innato de la
ATAXIA TELANGIECTASIA: REPORT OF TWO FAMILY CASES.
Ataxia telangiectasia (AT) is a rare combined immunodeficiency syndrome with multisystem involvement,
ATAXIA TELANGIECTASIA: REPORT OF TWO FAMILY CASES. Read More »
A case report of Omenn’s Syndrome in Hospital Infantil de Tlaxcala
Introduction: Omenn syndrome (OS) is characterized by severe combined immunodeficiency (SCID) associated
A case report of Omenn’s Syndrome in Hospital Infantil de Tlaxcala Read More »
