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Inherited Immunodeficiency Diseases

MedGen UID:
1674020
•Concept ID:
C5197805
•
Disease or Syndrome
Synonyms: Immunodeficiency Disease, Inherited; Immunodeficiency Diseases, Inherited; Immunodeficiency Disorder, Inherited; Immunodeficiency Disorders, Inherited; Immunodeficiency Syndrome, Inherited; Immunodeficiency Syndromes, Inherited; Inherited Immunodeficiency Disease; Inherited Immunodeficiency Disorder; Inherited Immunodeficiency Disorders; Inherited Immunodeficiency Syndrome; Inherited Immunodeficiency Syndromes

Professional guidelines

PubMed

Enzymes as agents for the treatment of disease.
Goldberg DM
Clin Chim Acta 1992 Mar 13;206(1-2):45-76. doi: 10.1016/0009-8981(92)90007-d. PMID: 1572079

Recent clinical studies

Etiology

The fundamental contribution of Robert A. Good to the discovery of the crucial role of thymus in mammalian immunity.
Ribatti D
Immunology 2006 Nov;119(3):291-5. doi: 10.1111/j.1365-2567.2006.02484.x. PMID: 17067308Free PMC Article
Prepubertal periodontitis associated with chronic granulomatous disease.
Buduneli N, Baylas H, Aksu G, Kütükçüler N
J Clin Periodontol 2001 Jun;28(6):589-93. doi: 10.1034/j.1600-051x.2001.028006589.x. PMID: 11350528

Diagnosis

Prepubertal periodontitis associated with chronic granulomatous disease.
Buduneli N, Baylas H, Aksu G, Kütükçüler N
J Clin Periodontol 2001 Jun;28(6):589-93. doi: 10.1034/j.1600-051x.2001.028006589.x. PMID: 11350528
Primary immunodeficiency diseases.
Puck JM
JAMA 1997 Dec 10;278(22):1835-41. PMID: 9396644

Therapy

Prepubertal periodontitis associated with chronic granulomatous disease.
Buduneli N, Baylas H, Aksu G, Kütükçüler N
J Clin Periodontol 2001 Jun;28(6):589-93. doi: 10.1034/j.1600-051x.2001.028006589.x. PMID: 11350528
Enzymes as agents for the treatment of disease.
Goldberg DM
Clin Chim Acta 1992 Mar 13;206(1-2):45-76. doi: 10.1016/0009-8981(92)90007-d. PMID: 1572079
Inosine biosynthesis in transfer RNA: a postulated role in immune regulation.
Trewyn RW
Med Hypotheses 1984 Apr;13(4):369-80. doi: 10.1016/0306-9877(84)90069-0. PMID: 6203019

Prognosis

Prepubertal periodontitis associated with chronic granulomatous disease.
Buduneli N, Baylas H, Aksu G, Kütükçüler N
J Clin Periodontol 2001 Jun;28(6):589-93. doi: 10.1034/j.1600-051x.2001.028006589.x. PMID: 11350528
Enzymes as agents for the treatment of disease.
Goldberg DM
Clin Chim Acta 1992 Mar 13;206(1-2):45-76. doi: 10.1016/0009-8981(92)90007-d. PMID: 1572079
Inosine biosynthesis in transfer RNA: a postulated role in immune regulation.
Trewyn RW
Med Hypotheses 1984 Apr;13(4):369-80. doi: 10.1016/0306-9877(84)90069-0. PMID: 6203019

Clinical prediction guides

Epstein-Barr serology in immunodeficiencies: an attempt to correlate with immune abnormalities in Wiskott-Aldrich and Chediak-Higashi syndromes and ataxia telangiectasia.
Vilmer E, Lenoir GM, Virelizier JL, Griscelli C
Clin Exp Immunol 1984 Feb;55(2):249-56. PMID: 6321070Free PMC Article
Inosine biosynthesis in transfer RNA: a postulated role in immune regulation.
Trewyn RW
Med Hypotheses 1984 Apr;13(4):369-80. doi: 10.1016/0306-9877(84)90069-0. PMID: 6203019

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