Syndromes affecting immunity

bodily reaction

rare autosomal recessive disorder related to lysossomal function and the CHS1 gene

autosomal dominant form called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders

hypersensitivity reaction type II disease characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has material basis in mutation in the FOXP3 gene on chromosome Xp11

primary immune deficiency disorders characterized by defective CD40 signaling

immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22

a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.