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Immunodeficiency 27A(IMD27A)

MedGen UID:
860386
Concept ID:
C4011949
Disease or Syndrome
Synonyms: Familial Atypical Mycobacteriosis, IL12RB1-Related; IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE; IMD27A; IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE
SNOMED CT: Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (718230004); Mendelian susceptibility to mycobacterial disease due to complete IFNgammaR1 deficiency (718230004)
 
Gene (location): IFNGR1 (6q23.3)
 
Monarch Initiative: MONDO:0008856
OMIM®: 209950

Definition

Immunodeficiency-27A (IMD27A) results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. The disorder can thus be categorized as a form of mendelian susceptibility to mycobacterial disease (MSMD). Bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (147570), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008). [from OMIM]

Clinical features

From HPO
Night sweats
MedGen UID:
10351
Concept ID:
C0028081
Sign or Symptom
Occurrence of excessive sweating during sleep.
Weight loss
MedGen UID:
853198
Concept ID:
C1262477
Finding
Reduction of total body weight.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Anorexia
MedGen UID:
315
Concept ID:
C0003123
Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytosis
MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
Hypoplasia of the femoral head
MedGen UID:
384014
Concept ID:
C1856920
Anatomical Abnormality
Underdevelopment of the femoral head.
Pulmonary infiltrates
MedGen UID:
116009
Concept ID:
C0235896
Finding
A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
Abnormal bronchus physiology
MedGen UID:
1379715
Concept ID:
C4476771
Finding
Any anomaly of the function of the bronchi.
Histiocytosis
MedGen UID:
6845
Concept ID:
C0019618
Neoplastic Process
An excessive number of histiocytes (tissue macrophages).
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Pneumonia
MedGen UID:
10813
Concept ID:
C0032285
Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Rheumatoid factor positive
MedGen UID:
56226
Concept ID:
C0151379
Laboratory or Test Result
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
Salmonella osteomyelitis
MedGen UID:
56294
Concept ID:
C0152491
Disease or Syndrome
Osteomyelitis caused by infection with the bacteria, salmonella.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
Increased circulating IgM level
MedGen UID:
333454
Concept ID:
C1839972
Finding
An abnormally increased level of immunoglobulin M in blood.
Increased circulating IgG level
MedGen UID:
347032
Concept ID:
C1858977
Finding
An abnormally increased level of immunoglobulin G in blood.
Increased inflammatory response
MedGen UID:
868409
Concept ID:
C4022803
Finding
A abnormal increase in the inflammatory response to injury or infection.
Enlarged mesenteric lymph node
MedGen UID:
1368927
Concept ID:
C4476563
Finding
Increase in size of one or more mesenteric lymph nodes.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.
Elevated erythrocyte sedimentation rate
MedGen UID:
57727
Concept ID:
C0151632
Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Hypoalbuminemia
MedGen UID:
68694
Concept ID:
C0239981
Finding
Reduction in the concentration of albumin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency 27A

Professional guidelines

PubMed

Cowen LE, Sirjusingh C, Summerbell RC, Walmsley S, Richardson S, Kohn LM, Anderson JB
Antimicrob Agents Chemother 1999 Dec;43(12):2930-8. doi: 10.1128/AAC.43.12.2930. PMID: 10582885Free PMC Article

Recent clinical studies

Etiology

Østerdal OB, Salminen PR, Jordal S, Sjursen H, Wendelbo Ø, Haaverstad R
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Burchell AN, Calzavara LM, Myers T, Schlossberg J, Millson M, Escobar M, Wallace E, Major C
J Acquir Immune Defic Syndr 2003 Apr 15;32(5):534-41. doi: 10.1097/00126334-200304150-00011. PMID: 12679706
Alaeus A, Leitner T, Lidman K, Albert J
AIDS 1997 Feb;11(2):199-202. doi: 10.1097/00002030-199702000-00010. PMID: 9030367
Sullivan D, Bennett D, Henman M, Harwood P, Flint S, Mulcahy F, Shanley D, Coleman D
J Clin Microbiol 1993 Aug;31(8):2124-33. doi: 10.1128/jcm.31.8.2124-2133.1993. PMID: 8103773Free PMC Article
Loveday C, Pomeroy L, Weller IV, Quirk J, Hawkins A, Williams H, Smith A, Williams P, Tedder RS, Adler MW
BMJ 1989 Feb 18;298(6671):419-22. doi: 10.1136/bmj.298.6671.419. PMID: 2495047Free PMC Article

Diagnosis

Maharaj NR, Ramkaran P, Pillay S, Chuturgoon AA
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Talati NJ, Seybold U, Humphrey B, Aina A, Tapia J, Weinfurter P, Albalak R, Blumberg HM
BMC Infect Dis 2009 Feb 10;9:15. doi: 10.1186/1471-2334-9-15. PMID: 19208218Free PMC Article
Sheela SR, Latha M, Injody SJ
Indian Pediatr 2004 Sep;41(9):944-7. PMID: 15475639
Burchell AN, Calzavara LM, Myers T, Schlossberg J, Millson M, Escobar M, Wallace E, Major C
J Acquir Immune Defic Syndr 2003 Apr 15;32(5):534-41. doi: 10.1097/00126334-200304150-00011. PMID: 12679706
Sullivan PS, Dworkin MS, Jones JL, Hooper WC
AIDS 2000 Feb 18;14(3):321-4. doi: 10.1097/00002030-200002180-00015. PMID: 10716509

Therapy

Mansouri M, Rumrill S, Dawson S, Johnson A, Pinson JA, Gunzburg MJ, Latham CF, Barlow N, Mbogo GW, Ellenberg P, Headey SJ, Sluis-Cremer N, Tyssen D, Bauman JD, Ruiz FX, Arnold E, Chalmers DK, Tachedjian G
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Gilski M, Kazmierczyk M, Krzywda S, Zábranská H, Cooper S, Popović Z, Khatib F, DiMaio F, Thompson J, Baker D, Pichová I, Jaskolski M
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Sullivan DJ, Westerneng TJ, Haynes KA, Bennett DE, Coleman DC
Microbiology (Reading) 1995 Jul;141 ( Pt 7):1507-21. doi: 10.1099/13500872-141-7-1507. PMID: 7551019
Sullivan D, Bennett D, Henman M, Harwood P, Flint S, Mulcahy F, Shanley D, Coleman D
J Clin Microbiol 1993 Aug;31(8):2124-33. doi: 10.1128/jcm.31.8.2124-2133.1993. PMID: 8103773Free PMC Article

Prognosis

Østerdal OB, Salminen PR, Jordal S, Sjursen H, Wendelbo Ø, Haaverstad R
Interact Cardiovasc Thorac Surg 2016 May;22(5):633-40. Epub 2016 Jan 29 doi: 10.1093/icvts/ivv397. PMID: 26826713Free PMC Article
Sheela SR, Latha M, Injody SJ
Indian Pediatr 2004 Sep;41(9):944-7. PMID: 15475639
Cowen LE, Sirjusingh C, Summerbell RC, Walmsley S, Richardson S, Kohn LM, Anderson JB
Antimicrob Agents Chemother 1999 Dec;43(12):2930-8. doi: 10.1128/AAC.43.12.2930. PMID: 10582885Free PMC Article
McCullough M, Ross B, Reade P
J Clin Microbiol 1995 Mar;33(3):696-700. doi: 10.1128/jcm.33.3.696-700.1995. PMID: 7751379Free PMC Article
Loveday C, Pomeroy L, Weller IV, Quirk J, Hawkins A, Williams H, Smith A, Williams P, Tedder RS, Adler MW
BMJ 1989 Feb 18;298(6671):419-22. doi: 10.1136/bmj.298.6671.419. PMID: 2495047Free PMC Article

Clinical prediction guides

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Sullivan PS, Dworkin MS, Jones JL, Hooper WC
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Prince HE, Kreiss JK, Kasper CK, Kleinman S, Saunders AM, Waldbeser L, Mandigo G, Kaplan HS
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