Severe, disseminated by viruses, bacteria, fungi, protozoa, opportunistic microorganisms Cytomegalovirus, Herpesvirus, Mycobacteria Candida sp, Aspergillus sp, Toxoplasmosis P. jirovecii, Cryptosporidium sp Reaction to BCG vaccine |
Early onset Growth impairment Chronic diarrhea Absence of thymus Microcephaly, with or without facial dysmorphism |
Combined T and B cell immunodeficiencies - SCID |
CBC, lymphocyte count (CD3, CD4, CD8, CD19, CD56),TREC, immunoglobulin measurement |
Facial malformations and dysmorphisms Bone dysplasia Fractures Scoliosis Short stature Microcephaly Bruising / bleeding Cerebellar ataxia Oculocutaneous Telangiectasias Global development delay Intellectual deficit Joint hypermotility Extensive eczema Ichthyosis Ectodermal dysplasia |
Combined immunodeficiencies associated with syndromes |
Severe and / or recurrent bacterial infections, encapsulated respiratory, articular microorganisms, sepsis, Pneumococcus, Hemophilus, Mycoplasma Giardia lamblia Intestinal bacteria: Campylobacter sp, Salmonella sp Enterovirus (polio vaccine) Norovirus |
Symptom onset above 6 months Absence of tonsils / adenoids Lymphoproliferation Lymphoid nodular hyperplasia Developmental delay Chromosomal disorders |
Predominantly antibody defects |
Complete blood count, Immunoglobulin measurements, B lymphocyte count, KREC |
Bacterial, encapsulated microorganisms of the respiratory tract, articular or meninges, sepsis Pneumococcus, Neisseria sp, Hemophilus |
Manifestations of autoimmunity, lupus-like, glomerulopathy |
Complement defects |
C3, C4, CH50 |
Non-significant, non-severe Candidiasis Bacterial infections Epstein-Barr virus |
Early onset Lymphoproliferation Hemophagocytic lymphohistiocytosis Partial oculocutaneous albinism Developmental delay Autoimmune cytopenias Autoimmune endocrinopathies Severe inflammatory bowel disease |
Diseases with immune dysregulation |
Blood count Hematoscopy Autoantibodies
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Recurrent skin infections Deep abscesses Necrotizing pneumonia Osteomyelitis Catalase positive microorganisms: Staphylococcus sp, Klebsiella sp, Serratia sp, Pseudomonas sp, Aspergillus sp Candida sp, Burkholderia cepacia, M. tuberculosis
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Early onset Granulomas Nonspecific inflammatory bowel disease Pancreatic insufficiency Developmental delay Intellectual deficit Mouth ulcers Delayed umbilical cord fall Poor healing Periodontal disease Pulmonary alveolar proteinosis Lymphedema Myelodysplasia |
Numeric or functional phagocyte diseases |
Blood count Morphological evaluation of neutrophils in Hematoscopy Neutrophil oxidative burst test (DHR) |
Recurrent infections by only one type or few types of microorganism |
Little or no fever |
Innate immunity deficiency -IRAK4/MyD88 defect |
CBC, immunoglobulin measurement, lymphocyte phenotyping, CH50 to rule out other diagnoses, |
Bacterial, invasive, sepsis, |
Delayed umbilical cord fall |
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CD62L Shedding assay |
meningitis, arthritis, |
Improves with age |
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osteomyelitis |
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Pneumococcus |
Absence of spleen |
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Recurrent infections by only one type or few types of microorganisms |
Reaction to BCG vaccine |
Mendelian susceptibility to mycobacteria |
Functional assessment of the IFN γ-IL12 axis |
Mycobacteria |
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Intracellular fungi and bacteria |
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Recurrent infections by only one type or few types of microorganisms |
No other manifestations |
Innate immunity deficiency with susceptibility to viral infections |
Immunoglobulin measurement |
HPV-disseminated warts with or without bacterial infections |
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Blood count |
Recurrent herpes simplex encephalitis |
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Lymphocyte phenotyping to rule out other diagnoses, |
Severe reactions to triple viral and yellow fever vaccines |
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CD62L Shedding assay |
Recurrent infections by only one type or few types of microorganisms |
Ectodermal dysplasia |
Innate immunity deficiencies with susceptibility to fungi |
CBC, immunoglobulin measurements, lymphocyte phenotyping, DHR to rule out other diagnoses |
Cutaneous and / or invasive fungal infections, mainly Candida sp, with or without cutaneous staphylococcus infections |
Autoimmune endocrinopathies |
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Non-significant, non-severe, nor recurring |
Inflammatory manifestations in the absence of infectious agents or autoimmunity |
Autoinflammatory diseases |
Inflammatory activity test |
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Recurrent fever |
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Autoantibodies, immunoglobulin measurements and lymphocyte phenotyping to rule out other diagnoses |
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Urticarial rash without pruritus |
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Panniculitis |
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Lipodystrophy |
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Lytic bone lesions |
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Arthritis |
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Pyoderma gangrenosum |
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Severe acne |
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Pustular psoriasis |
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Encephalopathy |
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Strokes |
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Pernio |
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