Inherited IL-12p40 Deficiency

Interleukin-12 Receptor  1 Deficiency Predisposing to Disseminated Coccidioidomycosis

(2011) D. C. Vinh et al.   CLINICAL INFECTIOUS DISEASES

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

(2011) Ithaisa Sologuren et al.   HUMAN MOLECULAR GENETICS

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

(2011) Jacinta Bustamante et al.   NATURE IMMUNOLOGY

IRF8Mutations and Human Dendritic-Cell Immunodeficiency

(2011) Sophie Hambleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

(2010) Kai Kisand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

MENINGOENCEPHALITIS CAUSED BY VARICELLA-ZOSTER VIRUS REACTIVATION IN A CHILD WITH DOMINANT PARTIAL INTERFERON-GAMMA RECEPTOR-1 DEFICIENCY

(2010) Joachim Roesler et al.   PEDIATRIC INFECTIOUS DISEASE JOURNAL

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

(2008) Jacinta Bustamante et al.   CURRENT OPINION IN IMMUNOLOGY

The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases

(2008) Saleh Al-Muhsen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Biliary Cirrhosis in a Child with Inherited Interleukin-12 Deficiency

(2008) A. S. Pulickal et al.   JOURNAL OF TROPICAL PEDIATRICS