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Immunodeficiency 76(IMD76)

MedGen UID:
1781281
Concept ID:
C5543004
Disease or Syndrome
Synonyms: IMD76; IMMUNODEFICIENCY 76
 
Gene (location): FCHO1 (19p13.11)
 
Monarch Initiative: MONDO:0030898
OMIM®: 619164

Definition

Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by Lyszkiewicz et al., 2020). [from OMIM]

Clinical features

From HPO
B-cell lymphoma
MedGen UID:
86953
Concept ID:
C0079731
Neoplastic Process
A type of lymphoma that originates in B-cells.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
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.
Recurrent bronchiolitis
MedGen UID:
863573
Concept ID:
C4015136
Finding
An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Lymphadenopathy
MedGen UID:
96929
Concept ID:
C0497156
Disease or Syndrome
Enlargment (swelling) of a lymph node.
B lymphocytopenia
MedGen UID:
340780
Concept ID:
C1855067
Finding
An abnormal decrease from the normal count of B cells.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.

Professional guidelines

PubMed

Pan H, Wang G, Guan E, Song L, Song A, Liu X, Yi Z, Sun LR
BMC Pediatr 2020 Jun 9;20(1):288. doi: 10.1186/s12887-020-02178-7. PMID: 32517812Free PMC Article

Recent clinical studies

Etiology

Silva MJA, Marinho RL, Dos Santos PAS, Dos Santos CS, Ribeiro LR, Rodrigues YC, Lima KVB, Lima LNGC
Viruses 2023 Sep 20;15(9) doi: 10.3390/v15091958. PMID: 37766364Free PMC Article
Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Murray CE, O'Brien C, Alamin S, Phelan SH, Argue R, Kiersey R, Gardiner M, Naughton A, Keogh E, Holmes P, Naughton S, Scanlon A, Sloan A, McCrea P, Sui J, Dunne J, Conlon N
Front Immunol 2023;14:1131604. Epub 2023 Mar 24 doi: 10.3389/fimmu.2023.1131604. PMID: 37033955Free PMC Article
Kluger N
Curr Probl Dermatol 2015;48:76-87. Epub 2015 Mar 26 doi: 10.1159/000369189. PMID: 25833628
Cossu F
Ital J Pediatr 2010 Nov 15;36:76. doi: 10.1186/1824-7288-36-76. PMID: 21078154Free PMC Article

Diagnosis

Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Person AK, Crabtree-Ramirez B, Kim A, Veloso V, Maruri F, Wandeler G, Fox M, Moore R, John Gill M, Imran D, Van Nguyen K, Nalitya E, Muyindike W, Shepherd BE, McGowan CC
Clin Infect Dis 2023 Jun 16;76(12):2116-2125. doi: 10.1093/cid/ciad076. PMID: 36821489Free PMC Article
Lev A, Asleh M, Levy S, Lee YN, Simon AJ, Stepensky P, Nalbandyan K, Nahum A, Ben-Harosh M, Yablonski D, Broides A, Somech R
J Clin Immunol 2023 Apr;43(3):625-635. Epub 2022 Dec 7 doi: 10.1007/s10875-022-01412-4. PMID: 36474126
Mateu L, Teniente-Serra A, Rocamora G, Marin-Muñiz A, Pàrraga N, Casas I, Reynaga E, Sopena N, Sabria M, Pedro-Botet ML; los miembros del Comité de Inmunodeficiencias Primarias del Hospital Germans Trias i Pujol
Med Clin (Barc) 2021 Mar 26;156(6):270-276. Epub 2020 Aug 28 doi: 10.1016/j.medcli.2020.04.066. PMID: 32868033
Cossu F
Ital J Pediatr 2010 Nov 15;36:76. doi: 10.1186/1824-7288-36-76. PMID: 21078154Free PMC Article

Therapy

Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Davis AG, Wasserman S, Stek C, Maxebengula M, Jason Liang C, Stegmann S, Koekemoer S, Jackson A, Kadernani Y, Bremer M, Daroowala R, Aziz S, Goliath R, Lai Sai L, Sihoyiya T, Denti P, Lai RPJ, Crede T, Naude J, Szymanski P, Vallie Y, Banderker IA, Moosa MS, Raubenheimer P, Candy S, Offiah C, Wahl G, Vorster I, Maartens G, Black J, Meintjes G, Wilkinson RJ
Clin Infect Dis 2023 Apr 17;76(8):1412-1422. doi: 10.1093/cid/ciac932. PMID: 36482216Free PMC Article
Grinspoon SK, Fitch KV, Overton ET, Fichtenbaum CJ, Zanni MV, Aberg JA, Malvestutto C, Lu MT, Currier JS, Sponseller CA, Waclawiw M, Alston-Smith B, Cooper-Arnold K, Klingman KL, Desvigne-Nickens P, Hoffmann U, Ribaudo HJ, Douglas PS; REPRIEVE Investigators
Am Heart J 2019 Jun;212:23-35. Epub 2019 Mar 4 doi: 10.1016/j.ahj.2018.12.016. PMID: 30928825Free PMC Article
Robinson HL
Clin Pharmacol Ther 2018 Dec;104(6):1062-1073. Epub 2018 Oct 9 doi: 10.1002/cpt.1208. PMID: 30099743Free PMC Article
Mason-Jones AJ, Sinclair D, Mathews C, Kagee A, Hillman A, Lombard C
Cochrane Database Syst Rev 2016 Nov 8;11(11):CD006417. doi: 10.1002/14651858.CD006417.pub3. PMID: 27824221Free PMC Article

Prognosis

Zhang B, Fan J, Huang C, Fan H, Chen J, Huang X, Zeng X
J Clin Immunol 2023 Oct;43(7):1660-1670. Epub 2023 Jun 26 doi: 10.1007/s10875-023-01537-0. PMID: 37365453Free PMC Article
Du M, Wang Y, Qin C, Mi D, Liu M, Liu J
AIDS 2023 Sep 1;37(11):1747-1756. Epub 2023 Jun 21 doi: 10.1097/QAD.0000000000003632. PMID: 37352496Free PMC Article
Wei F, Goodman MT, Xia N, Zhang J, Giuliano AR, D'Souza G, Hessol NA, Schim van der Loeff MF, Dai J, Neukam K, de Pokomandy A, Poynten IM, Geskus RB, Burgos J, Etienney I, Moscicki AB, Donà MG, Gillison ML, Nyitray AG, Nowak RG, Yunihastuti E, Zou H, Hidalgo-Tenorio C, Phanuphak N, Molina JM, Schofield AM, Kerr S, Fan S, Lu Y, Ong JJ, Chikandiwa AT, Teeraananchai S, Squillace N, Wiley DJ, Palefsky JM, Georges D, Alberts CJ, Clifford GM
Clin Infect Dis 2023 Feb 8;76(3):e692-e701. doi: 10.1093/cid/ciac581. PMID: 35869839Free PMC Article
Sowa NA, Cholera R, Pence BW, Gaynes BN
J Clin Psychiatry 2015 Oct;76(10):1385-96. doi: 10.4088/JCP.14r09186. PMID: 26528645
Cicalini S, Chinello P, Grilli E, Petrosillo N
Curr HIV Res 2009 Nov;7(6):589-96. doi: 10.2174/157016209789973583. PMID: 19929793

Clinical prediction guides

Bulterys MA, Njuguna I, King'e M, Chebet D, Moraa H, Gomez L, Onyango A, Malavi K, Nzia G, Chege M, Neary J, Wagner AD, Lawley KA, Wamalwa D, Benki-Nugent S, John-Stewart G
J Int AIDS Soc 2023 Oct;26 Suppl 4(Suppl 4):e26149. doi: 10.1002/jia2.26149. PMID: 37909174Free PMC Article
Zhao Q, Li NN, Chen YX, Zhao XY
Front Cell Infect Microbiol 2023;13:1107237. Epub 2023 May 26 doi: 10.3389/fcimb.2023.1107237. PMID: 37305416Free PMC Article
Murray CE, O'Brien C, Alamin S, Phelan SH, Argue R, Kiersey R, Gardiner M, Naughton A, Keogh E, Holmes P, Naughton S, Scanlon A, Sloan A, McCrea P, Sui J, Dunne J, Conlon N
Front Immunol 2023;14:1131604. Epub 2023 Mar 24 doi: 10.3389/fimmu.2023.1131604. PMID: 37033955Free PMC Article
Brinker MR, Loftis CM, Khoriaty JD, Dunn WR
J Shoulder Elbow Surg 2022 Dec;31(12):2578-2585. Epub 2022 Jun 16 doi: 10.1016/j.jse.2022.05.012. PMID: 35718254
Shen Q, Sheng L, Zhang J, Ye J, Zhou J
Infection 2022 Feb;50(1):169-178. Epub 2021 Aug 5 doi: 10.1007/s15010-021-01679-6. PMID: 34351597Free PMC Article

Recent systematic reviews

Zhou T, Guan H, Wang L, Zhang Y, Rui M, Ma A
Front Public Health 2021;9:675523. Epub 2021 Jun 29 doi: 10.3389/fpubh.2021.675523. PMID: 34268287Free PMC Article
Sultana ZZ, Hoque FU, Beyene J, Akhlak-Ul-Islam M, Khan MHR, Ahmed S, Hawlader DH, Hossain A
BMC Infect Dis 2021 Jan 11;21(1):51. doi: 10.1186/s12879-020-05749-2. PMID: 33430786Free PMC Article
Peebles K, Velloza J, Balkus JE, McClelland RS, Barnabas RV
Sex Transm Dis 2019 May;46(5):304-311. doi: 10.1097/OLQ.0000000000000972. PMID: 30624309
Degenhardt L, Peacock A, Colledge S, Leung J, Grebely J, Vickerman P, Stone J, Cunningham EB, Trickey A, Dumchev K, Lynskey M, Griffiths P, Mattick RP, Hickman M, Larney S
Lancet Glob Health 2017 Dec;5(12):e1192-e1207. Epub 2017 Oct 23 doi: 10.1016/S2214-109X(17)30375-3. PMID: 29074409Free PMC Article
Mason-Jones AJ, Sinclair D, Mathews C, Kagee A, Hillman A, Lombard C
Cochrane Database Syst Rev 2016 Nov 8;11(11):CD006417. doi: 10.1002/14651858.CD006417.pub3. PMID: 27824221Free PMC Article

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