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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
 
SubstanceCAS Registry & nameCategoriesSource
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.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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