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Immunodeficiency 102(IMD102)

MedGen UID:
1812534
Concept ID:
C5676886
Disease or Syndrome
Synonyms: IMD102; IMMUNODEFICIENCY 102
 
Gene (location): SASH3 (Xq26.1)
 
Monarch Initiative: MONDO:0024781
OMIM®: 301082

Definition

Immunodeficiency-102 (IMD102) is an X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation (Delmonte et al., 2021). [from OMIM]

Clinical features

From HPO
Verrucae
MedGen UID:
777120
Concept ID:
C3665596
Finding
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Nodular regenerative hyperplasia of liver
MedGen UID:
488965
Concept ID:
C1318485
Disease or Syndrome
Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Leukopenia
MedGen UID:
6073
Concept ID:
C0023530
Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Sepsis
MedGen UID:
48626
Concept ID:
C0036690
Disease or Syndrome
Systemic inflammatory response to infection.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Decreased circulating IgA level
MedGen UID:
57934
Concept ID:
C0162538
Disease or Syndrome
Decreased levels of immunoglobulin A (IgA).
Decreased circulating total IgM
MedGen UID:
116095
Concept ID:
C0239989
Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Autoimmune thrombocytopenia
MedGen UID:
116621
Concept ID:
C0242584
Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Neutropenia in presence of anti-neutropil antibodies
MedGen UID:
137947
Concept ID:
C0340971
Disease or Syndrome
A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
Recurrent skin infections
MedGen UID:
377848
Concept ID:
C1853193
Disease or Syndrome
Infections of the skin that happen multiple times.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
Reduced natural killer cell count
MedGen UID:
383765
Concept ID:
C1855767
Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Increased circulating interleukin 6 concentration
MedGen UID:
901461
Concept ID:
C4280771
Finding
The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.
Severe varicella zoster infection
MedGen UID:
1688785
Concept ID:
C5139168
Disease or Syndrome
An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
Partial absence of specific antibody response to unconjugated pneumococcus vaccine
MedGen UID:
1686478
Concept ID:
C5139464
Finding
A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine
MedGen UID:
1706490
Concept ID:
C5139468
Finding
A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.
Decreased proportion of naive CD8 T cells
MedGen UID:
1694295
Concept ID:
C5139538
Finding
An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.
Decreased proportion of naive CD4 T cells
MedGen UID:
1705154
Concept ID:
C5139539
Finding
An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Decreased proportion of CD4-positive helper T cells
MedGen UID:
1719772
Concept ID:
C5235140
Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
Increased proportion of CD8-positive, alpha-beta TEMRA T cells
MedGen UID:
1717191
Concept ID:
C5398015
Finding
An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
Severe influenza infection
MedGen UID:
1814393
Concept ID:
C5676829
Disease or Syndrome
An unusually severe infection by an influenza virus.
Chronic rhinitis
MedGen UID:
3086
Concept ID:
C0008711
Disease or Syndrome
Chronic inflammation of the nasal mucosa.
Aphthous stomatitis
MedGen UID:
20959
Concept ID:
C0038363
Disease or Syndrome
Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.

Professional guidelines

PubMed

Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Edelman EJ, Oldfield BJ, Tetrault JM
Med Clin North Am 2018 Jul;102(4):635-652. doi: 10.1016/j.mcna.2018.02.007. PMID: 29933820
Clement ME, Okeke NL, Hicks CB
JAMA 2014 Nov 12;312(18):1905-17. doi: 10.1001/jama.2014.13259. PMID: 25387188Free PMC Article

Recent clinical studies

Etiology

Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Barbera LK, Kamis KF, Rowan SE, Davis AJ, Shehata S, Carlson JJ, Johnson SC, Erlandson KM
HIV Res Clin Pract 2021 Aug;22(4):102-118. Epub 2021 Sep 12 doi: 10.1080/25787489.2021.1975608. PMID: 34514963Free PMC Article
Mosier DA, Oberst RD
Ann N Y Acad Sci 2000;916:102-11. doi: 10.1111/j.1749-6632.2000.tb05279.x. PMID: 11193609
Carrigan DR
Am J Med 1997 Mar 17;102(3A):71-4. doi: 10.1016/s0002-9343(97)00015-6. PMID: 10868146
Arndt SD
Am J Med 1997 May 19;102(5B):104-5. doi: 10.1016/s0002-9343(97)00071-5. PMID: 9845509

Diagnosis

Elendu C, Aguocha CM, Okeke CV, Okoro CB, Peterson JC
Medicine (Baltimore) 2023 Oct 27;102(43):e35652. doi: 10.1097/MD.0000000000035652. PMID: 37904369Free PMC Article
Patel A, Bilinska J, Tam JCH, Da Silva Fontoura D, Mason CY, Daunt A, Snell LB, Murphy J, Potter J, Tuudah C, Sundramoorthi R, Abeywickrema M, Pley C, Naidu V, Nebbia G, Aarons E, Botgros A, Douthwaite ST, van Nispen Tot Pannerden C, Winslow H, Brown A, Chilton D, Nori A
BMJ 2022 Jul 28;378:e072410. doi: 10.1136/bmj-2022-072410. PMID: 35902115Free PMC Article
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Rolle CP, Berhe M, Singh T, Ortiz R, Wurapa A, Ramgopal M, Leone PA, Matthews JE, Dalessandro M, Underwood MR, Angelis K, Wynne BR, Merrill D, Nguyen C, van Wyk J, Zolopa AR
AIDS 2021 Oct 1;35(12):1957-1965. doi: 10.1097/QAD.0000000000002979. PMID: 34115650Free PMC Article
Carrigan DR
Am J Med 1997 Mar 17;102(3A):71-4. doi: 10.1016/s0002-9343(97)00015-6. PMID: 10868146

Therapy

Kalada W, Cory TJ
Curr HIV Res 2022 Aug 12;20(2):102-110. doi: 10.2174/1570162X20666211227161237. PMID: 34961449
Rolle CP, Berhe M, Singh T, Ortiz R, Wurapa A, Ramgopal M, Leone PA, Matthews JE, Dalessandro M, Underwood MR, Angelis K, Wynne BR, Merrill D, Nguyen C, van Wyk J, Zolopa AR
AIDS 2021 Oct 1;35(12):1957-1965. doi: 10.1097/QAD.0000000000002979. PMID: 34115650Free PMC Article
Avedissian SN, Dyavar SR, Fox HS, Fletcher CV
Curr Opin Pharmacol 2020 Oct;54:102-108. Epub 2020 Oct 10 doi: 10.1016/j.coph.2020.09.003. PMID: 33049585Free PMC Article
Andrews B, Semler MW, Muchemwa L, Kelly P, Lakhi S, Heimburger DC, Mabula C, Bwalya M, Bernard GR
JAMA 2017 Oct 3;318(13):1233-1240. doi: 10.1001/jama.2017.10913. PMID: 28973227Free PMC Article
D'Onofrio G, O'Connor PG, Pantalon MV, Chawarski MC, Busch SH, Owens PH, Bernstein SL, Fiellin DA
JAMA 2015 Apr 28;313(16):1636-44. doi: 10.1001/jama.2015.3474. PMID: 25919527Free PMC Article

Prognosis

Zhang J, Ma B, Han X, Ding S, Li Y
Lancet Child Adolesc Health 2022 Nov;6(11):763-776. Epub 2022 Sep 13 doi: 10.1016/S2352-4642(22)00219-X. PMID: 36108664
Patel A, Bilinska J, Tam JCH, Da Silva Fontoura D, Mason CY, Daunt A, Snell LB, Murphy J, Potter J, Tuudah C, Sundramoorthi R, Abeywickrema M, Pley C, Naidu V, Nebbia G, Aarons E, Botgros A, Douthwaite ST, van Nispen Tot Pannerden C, Winslow H, Brown A, Chilton D, Nori A
BMJ 2022 Jul 28;378:e072410. doi: 10.1136/bmj-2022-072410. PMID: 35902115Free PMC Article
Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-Martín A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA
J Eur Acad Dermatol Venereol 2022 Jul;36(7):973-986. Epub 2022 Mar 15 doi: 10.1111/jdv.18043. PMID: 35238435Free PMC Article
Andrews B, Semler MW, Muchemwa L, Kelly P, Lakhi S, Heimburger DC, Mabula C, Bwalya M, Bernard GR
JAMA 2017 Oct 3;318(13):1233-1240. doi: 10.1001/jama.2017.10913. PMID: 28973227Free PMC Article
Carrigan DR
Am J Med 1997 Mar 17;102(3A):71-4. doi: 10.1016/s0002-9343(97)00015-6. PMID: 10868146

Clinical prediction guides

Xiao Q, Yan L, Han J, Yang S, Tang Y, Li Q, Lao X, Chen Z, Xiao J, Zhao H, Yu F, Zhang F
EBioMedicine 2022 Dec;86:104382. Epub 2022 Nov 30 doi: 10.1016/j.ebiom.2022.104382. PMID: 36462403Free PMC Article
Patel A, Bilinska J, Tam JCH, Da Silva Fontoura D, Mason CY, Daunt A, Snell LB, Murphy J, Potter J, Tuudah C, Sundramoorthi R, Abeywickrema M, Pley C, Naidu V, Nebbia G, Aarons E, Botgros A, Douthwaite ST, van Nispen Tot Pannerden C, Winslow H, Brown A, Chilton D, Nori A
BMJ 2022 Jul 28;378:e072410. doi: 10.1136/bmj-2022-072410. PMID: 35902115Free PMC Article
Rolle CP, Berhe M, Singh T, Ortiz R, Wurapa A, Ramgopal M, Leone PA, Matthews JE, Dalessandro M, Underwood MR, Angelis K, Wynne BR, Merrill D, Nguyen C, van Wyk J, Zolopa AR
AIDS 2021 Oct 1;35(12):1957-1965. doi: 10.1097/QAD.0000000000002979. PMID: 34115650Free PMC Article
Song M, Liu Y, Lu Z, Luo H, Peng H, Chen P
BMC Pulm Med 2020 Apr 23;20(1):102. doi: 10.1186/s12890-020-1131-0. PMID: 32326923Free PMC Article
Rosser A, Marx FM, Pareek M
Int J Tuberc Lung Dis 2018 Feb 1;22(2):139-150. doi: 10.5588/ijtld.17.0590. PMID: 29506610

Recent systematic reviews

Soltani S, Kesheh MM, Siri G, Faramarzi S, Shahbahrami R, Didehdar M, Erfani Y, Farahani A
Int J Colorectal Dis 2023 Apr 18;38(1):102. doi: 10.1007/s00384-023-04391-z. PMID: 37069433
Wu S, Wang J, Guo Q, Lan H, Sun Y, Ren M, Liu Y, Wang P, Wang L, Su R, Zhang J, Chen Y, Li G
Clin Microbiol Infect 2023 Aug;29(8):1000-1007. Epub 2023 Mar 13 doi: 10.1016/j.cmi.2023.03.002. PMID: 36921717
Joshi K, Lessler J, Olawore O, Loevinsohn G, Bushey S, Tobian AAR, Grabowski MK
J Int AIDS Soc 2021 Oct;24(10):e25818. doi: 10.1002/jia2.25818. PMID: 34672104Free PMC Article
Patel P, Rose CE, Kjetland EF, Downs JA, Mbabazi PS, Sabin K, Chege W, Watts DH, Secor WE
Int J Infect Dis 2021 Jan;102:544-553. Epub 2020 Nov 3 doi: 10.1016/j.ijid.2020.10.088. PMID: 33157296Free PMC Article
Clement ME, Okeke NL, Hicks CB
JAMA 2014 Nov 12;312(18):1905-17. doi: 10.1001/jama.2014.13259. PMID: 25387188Free PMC Article

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