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Immunodeficiency with defective T-cell response to interleukin 1

MedGen UID:
340948
•Concept ID:
C1855735
•
Disease or Syndrome
Synonym: INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
 
Monarch Initiative: MONDO:0009464
OMIM®: 243110

Clinical features

From HPO
Growth delay
MedGen UID:
99124
•Concept ID:
C0456070
•
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
See: Feature record | Search on this feature
Recurrent pneumonia
MedGen UID:
195802
•Concept ID:
C0694550
•
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
See: Feature record | Search on this feature
Recurrent otitis media
MedGen UID:
155436
•Concept ID:
C0747085
•
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Assessment of intracellular cytokines and regulatory cells in patients with autoimmune diseases and primary immunodeficiencies - novel tool for diagnostics and patient follow-up.
Osnes LT, Nakken B, Bodolay E, Szodoray P
Autoimmun Rev 2013 Aug;12(10):967-71. Epub 2013 Mar 26 doi: 10.1016/j.autrev.2013.02.003. PMID: 23541481

Recent clinical studies

Etiology

Cytokine production assays reveal discriminatory immune defects in adults with recurrent infections and noninfectious inflammation.
Ten Oever J, van de Veerdonk FL, Joosten LA, Simon A, van Crevel R, Kullberg BJ, Gyssens IC, van der Meer JW, van Deuren M, Netea MG
Clin Vaccine Immunol 2014 Aug;21(8):1061-9. Epub 2014 May 28 doi: 10.1128/CVI.00152-14. PMID: 24872512Free PMC Article
Assessment of intracellular cytokines and regulatory cells in patients with autoimmune diseases and primary immunodeficiencies - novel tool for diagnostics and patient follow-up.
Osnes LT, Nakken B, Bodolay E, Szodoray P
Autoimmun Rev 2013 Aug;12(10):967-71. Epub 2013 Mar 26 doi: 10.1016/j.autrev.2013.02.003. PMID: 23541481
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, Camcioglu Y, Cokugras H, Somer A, Kutukculer N, Yilmaz M, Ikinciogullari A, Yegin O, Yüksek M, Genel F, Kucukosmanoglu E, Baki A, Bahceciler NN, Rambhatla A, Nickerson DW, McGhee S, Barlan IB, Chatila T
J Allergy Clin Immunol 2009 Aug;124(2):342-8, 348.e1-5. Epub 2009 Jul 3 doi: 10.1016/j.jaci.2009.05.004. PMID: 19577286Free PMC Article
Primary immunodeficiencies associated with pneumococcal disease.
Picard C, Puel A, Bustamante J, Ku CL, Casanova JL
Curr Opin Allergy Clin Immunol 2003 Dec;3(6):451-9. doi: 10.1097/00130832-200312000-00006. PMID: 14612669

Diagnosis

PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome.
Frans G, Moens L, Schrijvers R, Wuyts G, Bouckaert B, Schaballie H, Dupont L, Bossuyt X, Corveleyn A, Meyts I
J Clin Immunol 2015 Nov;35(8):739-44. Epub 2015 Oct 15 doi: 10.1007/s10875-015-0205-x. PMID: 26472314
Assessment of intracellular cytokines and regulatory cells in patients with autoimmune diseases and primary immunodeficiencies - novel tool for diagnostics and patient follow-up.
Osnes LT, Nakken B, Bodolay E, Szodoray P
Autoimmun Rev 2013 Aug;12(10):967-71. Epub 2013 Mar 26 doi: 10.1016/j.autrev.2013.02.003. PMID: 23541481
Milder clinical hyperimmunoglobulin E syndrome phenotype is associated with partial interleukin-17 deficiency.
van de Veerdonk FL, Marijnissen RJ, Joosten LA, Kullberg BJ, Drenth JP, Netea MG, van der Meer JW
Clin Exp Immunol 2010 Jan;159(1):57-64. Epub 2009 Oct 30 doi: 10.1111/j.1365-2249.2009.04043.x. PMID: 19878510Free PMC Article
Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome.
Al Khatib S, Keles S, Garcia-Lloret M, Karakoc-Aydiner E, Reisli I, Artac H, Camcioglu Y, Cokugras H, Somer A, Kutukculer N, Yilmaz M, Ikinciogullari A, Yegin O, Yüksek M, Genel F, Kucukosmanoglu E, Baki A, Bahceciler NN, Rambhatla A, Nickerson DW, McGhee S, Barlan IB, Chatila T
J Allergy Clin Immunol 2009 Aug;124(2):342-8, 348.e1-5. Epub 2009 Jul 3 doi: 10.1016/j.jaci.2009.05.004. PMID: 19577286Free PMC Article
Primary immunodeficiencies associated with pneumococcal disease.
Picard C, Puel A, Bustamante J, Ku CL, Casanova JL
Curr Opin Allergy Clin Immunol 2003 Dec;3(6):451-9. doi: 10.1097/00130832-200312000-00006. PMID: 14612669

Therapy

Cryptococcal osteomyelitis and cellular immunodeficiency associated with interleukin-2 deficiency.
Sorensen RU, Boehm KD, Kaplan D, Berger M
J Pediatr 1992 Dec;121(6):873-9. doi: 10.1016/s0022-3476(05)80331-2. PMID: 1447648
Immune deficiency in chronic Trypanosoma cruzi infection. Recombinant IL-1 restores Th function for antibody production.
Reed SG, Pihl DL, Grabstein KH
J Immunol 1989 Mar 15;142(6):2067-71. PMID: 2522132
Effects of systemic in vivo interleukin-2 (IL-2) reconstitution in patients with acquired immune deficiency syndrome (AIDS) and AIDS-related complex (ARC) on phenotypes and functions of peripheral blood mononuclear cells (PBMC).
Ernst M, Kern P, Flad HD, Ulmer AJ
J Clin Immunol 1986 Mar;6(2):170-81. doi: 10.1007/BF00918750. PMID: 2940258

Prognosis

Assessment of intracellular cytokines and regulatory cells in patients with autoimmune diseases and primary immunodeficiencies - novel tool for diagnostics and patient follow-up.
Osnes LT, Nakken B, Bodolay E, Szodoray P
Autoimmun Rev 2013 Aug;12(10):967-71. Epub 2013 Mar 26 doi: 10.1016/j.autrev.2013.02.003. PMID: 23541481
Dendritic cell function during chronic hepatitis C virus and human immunodeficiency virus type 1 infection.
Fan Z, Huang XL, Kalinski P, Young S, Rinaldo CR Jr
Clin Vaccine Immunol 2007 Sep;14(9):1127-37. Epub 2007 Jul 18 doi: 10.1128/CVI.00141-07. PMID: 17634507Free PMC Article

Clinical prediction guides

Milder clinical hyperimmunoglobulin E syndrome phenotype is associated with partial interleukin-17 deficiency.
van de Veerdonk FL, Marijnissen RJ, Joosten LA, Kullberg BJ, Drenth JP, Netea MG, van der Meer JW
Clin Exp Immunol 2010 Jan;159(1):57-64. Epub 2009 Oct 30 doi: 10.1111/j.1365-2249.2009.04043.x. PMID: 19878510Free PMC Article
Cryptococcal osteomyelitis and cellular immunodeficiency associated with interleukin-2 deficiency.
Sorensen RU, Boehm KD, Kaplan D, Berger M
J Pediatr 1992 Dec;121(6):873-9. doi: 10.1016/s0022-3476(05)80331-2. PMID: 1447648
T-lymphocyte response to cytokines in B-chronic lymphocytic leukemia.
Briggs PG, Kraft N, Atkins RC
Leuk Res 1991;15(9):859-65. doi: 10.1016/0145-2126(91)90470-e. PMID: 1921461
Effects of systemic in vivo interleukin-2 (IL-2) reconstitution in patients with acquired immune deficiency syndrome (AIDS) and AIDS-related complex (ARC) on phenotypes and functions of peripheral blood mononuclear cells (PBMC).
Ernst M, Kern P, Flad HD, Ulmer AJ
J Clin Immunol 1986 Mar;6(2):170-81. doi: 10.1007/BF00918750. PMID: 2940258
Association of an interleukin abnormality with the T cell defect in Hodgkin's disease.
Ford RJ, Tsao J, Kouttab NM, Sahasrabuddhe CG, Mehta SR
Blood 1984 Aug;64(2):386-92. PMID: 6611180

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