Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency

Current Views on Diagnostic Approach and Treatment of Lymphedema

(2012) Giuseppe Murdaca et al.   AMERICAN JOURNAL OF MEDICINE

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

(2012) Jacinta Bustamante et al.   Annals of the New York Academy of Sciences

T and B Cell Deficiency Associated with Yellow Nail Syndrome

(2011) S. Gupta et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Lymphoedema of the lower extremities - background, pathophysiology and diagnostic considerations

(2010) Mads R. Jensen et al.   CLINICAL PHYSIOLOGY AND FUNCTIONAL IMAGING

A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID)

(2010) Catherine M. L. Roberts et al.   EUROPEAN JOURNAL OF PEDIATRICS

Multiple cutaneous squamous cell carcinomas in a patient with interferon   receptor 2 (IFN R2) deficiency

(2010) H. Toyoda et al.   JOURNAL OF MEDICAL GENETICS

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes

(2009) Perdita Permaul et al.   IMMUNOLOGIC RESEARCH

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense

(2009) Shen-Ying Zhang et al.   IMMUNOLOGICAL REVIEWS

SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCY

(2009) Petra Moilanen et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Chinese Patients with Defective IL-12/23-Interferon-γ Circuit in Taiwan: Partial Dominant Interferon-γ Receptor 1 Mutation Presenting as Cutaneous Granuloma and IL-12 Receptor β1 Mutation as Pneumatocele

(2008) Wen-I Lee et al.   JOURNAL OF CLINICAL IMMUNOLOGY

IFN-γ Mediates the Rejection of Haematopoietic Stem Cells in IFN-γR1-Deficient Hosts

(2008) Martin Rottman et al.   PLOS MEDICINE