| children | - Absent thumb with short stature and immunodeficiency syndrome 719685004
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Aicardi Goutieres syndrome 230312006
- Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome 720980004
- Ataxia-telangiectasia syndrome 68504005
- Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome 722288007
- Autoimmune interstitial lung disease, arthritis syndrome 1222679006
- Autoimmune lymphoproliferative syndrome 702444009
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 778004006
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 829973009
- CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome 1186720006
- Chronic granulomatous disease 11210002 removed: 2003-01-31
- Combined immunodeficiency due to OX40 deficiency 766879006
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome 770625006
- Common variable agammaglobulinemia 23238000
- Complement component 3 deficiency 771443008
- Complement component deficiency 363009005
- Complement hyperactivation, angiopathic thrombosis, protein losing enteropathy syndrome 1279887007
- Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome 765327005
- Constitutional mismatch repair deficiency syndrome 764946008
- Deficiency in anterior pituitary function, variable immunodeficiency syndrome 773664005
- Deficiency of interleukin 36 receptor antagonist 784339002
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome 771515001
- Familial amyloid nephropathy with urticaria AND deafness 15123008
- Familial C3B inhibitor deficiency syndrome 39674000
- Familial chilblain lupus erythematosus 1220590003
- Familial cold urticaria 238687000
- Genetically determined myasthenia 230669004
- Granulomatous inflammatory arthritis, dermatitis and uveitis, familial 699861000
- Hennekam syndrome 234146006
- Hereditary C1 esterase inhibitor deficiency - deficient factor 234619000
- Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 234620006
- Hereditary pediatric Behçet-like disease 1187119002
- Hereditary white blood cell disorder 414395005
- Hyperimmunoglobulinemia D with periodic fever 403834003
- Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome 771333006
- Immunodeficiency with factor I anomaly 783621008
- Infantile inflammatory bowel disease with neurological involvement 1186721005
- Isolated agammaglobulinemia 764858009
- Lichtenstein syndrome 763668009
- Majeed syndrome 703540008
- Microcephaly, normal intelligence and immunodeficiency 234638009
- Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome 733028000
- Nakajo-Nishimura syndrome 702449004
- Neonatal inflammatory skin and bowel disease 773662009
- NLRC4-related familial cold autoinflammatory syndrome 1264006004
- NLRP12-associated hereditary periodic fever syndrome 783146009
- Osteopetrosis hypogammaglobulinemia syndrome 773730002
- OTULIN-related autoinflammatory syndrome 765435009
- Polyglandular autoimmune syndrome, type 1 11244009
- Primary CD59 deficiency 778027003
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency 724275005
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 724015007
- Recurrent Neisseria infection due to factor D deficiency 783007005
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 783787000
- Roifman syndrome 773404000
- Schimke immuno-osseous dysplasia 723995003
- Severe combined immunodeficiency disease 31323000
- Severe dermatitis, multiple allergies, metabolic wasting syndrome 774211005
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- STING-associated vasculopathy with onset in infancy 711164003
- USP18 deficiency 1251449006
- Vasculitis due to adenosine deaminase 2 deficiency 770687001
- Vici syndrome 719824001
- Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome 1186725001
- Wiskott-Aldrich syndrome 36070007
- X-linked agammaglobulinemia with growth hormone deficiency 234533006
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome 724276006
- X-linked immunoneurologic disorder 719827008
- X-linked lymphoproliferative syndrome 77121009
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