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Immunologic Deficiency Syndromes
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Definition
: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
GEN or unspecified; for defic of specific immunoprotein, IMMUNOGLOBULINS or specific immunoglobulin, use specific with /defic; TN 223: definition & use; TN 225: differentiation from immunoglobulin defic; Manual 23.25.2; DF: IMMUNOL DEFIC SYNDROMES
See Also
Immunocompromised Host
Examples
Agammaglobulinemia
;
Ataxia Telangiectasia
;
Common Variable Immunodeficiency
;
Dysgammaglobulinemia
;
HIV Infections
;
Deltaretrovirus Infections
;
Leukocyte-Adhesion Deficiency Syndrome
;
Lymphopenia
;
Phagocyte Bactericidal Dysfunction
;
Severe Combined Immunodeficiency
;
Wiskott-Aldrich Syndrome
Other names
Antibody Deficiency Syndrome; Syndromes, Immunological Deficiency; Syndromes, Immunologic Deficiency; Syndromes, Antibody Deficiency; Syndrome, Immunological Deficiency; Syndrome, Immunologic Deficiency; Syndrome, Antibody Deficiency; Immunological Deficiency Syndrome; Deficiency Syndromes, Immunological; Deficiency Syndrome, Immunological; Deficiency Syndrome, Antibody; Antibody Deficiency Syndromes; Immunological Deficiency Syndromes; Immunologic Deficiency Syndrome; Deficiency Syndromes, Immunologic; Deficiency Syndromes, Antibody; Deficiency Syndrome, Immunologic
Substance
CAS Registry & name
Categories
Source
NEMO mutation with immunodeficiency
0
*Ectodermal Dysplasia
*Immunologic Deficiency Syndromes
*Genetic Diseases, X-Linked.
Immunodeficiency syndrome, variable
0
*Immunologic Deficiency Syndromes
Face/abnormalities.
Griscelli syndrome type 2
0
*Immunologic Deficiency Syndromes
*Piebaldism.
Hepatic venoocclusive disease with immunodeficiency
0
*Hepatic Veno-Occlusive Disease
*Immunologic Deficiency Syndromes.
Kotzot-
Richter syndrome
0
*Immunologic Deficiency Syndromes
*Hermanski-Pudlak Syndrome.
Leiner disease
0
*Immunologic Deficiency Syndromes
Complement C5/deficiency.
Fanconi like syndrome
0
*Hypersensitivity, Delayed
*Pancytopenia
*Immunologic Deficiency Syndromes
*Skin Neoplasms.
T cell immunodeficiency primary
0
*Immunologic Deficiency Syndromes.
WHIM syndrome
0
*Warts
*Immunologic Deficiency Syndromes.
Schimke immunoosseous dysplasia
0
*Arteriosclerosis
*Immunologic Deficiency Syndromes
*Nephrotic Syndrome
*Osteochondrodysplasias
*Pulmonary Embolism.
Immunodeficiency without anhidrotic ectodermal dysplasia
0
*Immunologic Deficiency Syndromes.
Thymic aplasia
0
*Immunologic Deficiency Syndromes
Thymus Gland/abnormalities.
Ectodermal dysplasia, hypohidrotic, with immune deficiency
0
*Ectodermal Dysplasia
*Immunologic Deficiency Syndromes.
Davenport Donlan syndrome
0
*Contracture
*Deafness
*Immunologic Deficiency Syndromes
*Papilloma
*Skin Neoplasms
Hair/abnormalities.
Cartilage-
hair hypoplasia
0
*Hirschsprung Disease
*Immunologic Deficiency Syndromes
*Osteochondrodysplasias/congenital
Hair/abnormalities.
Cartilage hair hypoplasia like syndrome
0
*Hirschsprung Disease
*Immunologic Deficiency Syndromes
*Osteochondrodysplasias/congenital
Hair/abnormalities.
Lichtenstein syndrome
0
*Fibrous Dysplasia of Bone
*Neutropenia
*Immunologic Deficiency Syndromes
*Facies.
Birth Defects Orig. Art. Ser. 8(3): 178-190
Roifman syndrome
0
*Immunologic Deficiency Syndromes
*Cardiomyopathies
*Osteochondrodysplasias
*Retinal Diseases
*Mental Retardation, X-Linked.