| Disease name |
Characteristic / Associated features |
Category |
inheritance type |
| RAG1 deficiency; Omenn syndrome |
Failure to thrive; mastoiditis; otitis media; conjunctivitis; purulent rhinitis; recurrent acute pneumonia; diarrhea; arthritis; meningitis; frequent opportunistic infections; absent peripheral blood B cells; absent peripheral blood T cells; panhypogammaglobulinemia; jejunal diverticula ;Chronic mucocutaneous candidiasis; eczematous dermatitis; systemic bacterial infections; chronic enteritis; absent cervical lymph nodes; absent tonsils; malnutrition; septicemia; absent nTregs; expanded gamma/delta T cells |
Combined T-cell and B-cell immunodeficiencies |
Autosomal recessive |
| RAG1 deficiency; Omenn syndrome |
Failure to thrive; pneumonia; hepatomegaly; splenomegaly; diarrhea; anemia; thrombocytopenia; eosinophilia; lymphadenopathy; increased frequency of bacterial, viral, and fungal infections; absent peripheral blood B cells; emergence of oligoclonal auto-reactive T lymphocytes; defect in V(D)J recombination process; hypereosinophilia; increased IgE level; erythroderma; enteropathy; poor proliferative response of T lymphocytes to specific antigens; hypoproteinemia; hypoplastic thymus; markedly reduced IgG levels; markedly reduced IgA levels; severe IgM deficiency |
Combined T-cell and B-cell immunodeficiencies |
Autosomal recessive |