U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Enlargement (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

Indirawati NN, Yunihastuti E, Yulianti M, Nasir UZ, Wulandari D, Rinaldi I
Int J Infect Dis 2022 Sep;122:415-419. Epub 2022 Jun 8 doi: 10.1016/j.ijid.2022.06.007. PMID: 35690363
Almejun MB, Borge M
Curr Allergy Asthma Rep 2017 Oct 5;17(11):76. doi: 10.1007/s11882-017-0745-7. PMID: 28983794
Vieira ADS, Silveira GRMD
Cien Saude Colet 2017 Aug;22(8):2659-2669. doi: 10.1590/1413-81232017228.21752015. PMID: 28793080
Cossu F
Ital J Pediatr 2010 Nov 15;36:76. doi: 10.1186/1824-7288-36-76. PMID: 21078154Free PMC Article
Luckhurst AJ
Aust Health Rev 1992;15(1):76-88. PMID: 10117455

Diagnosis

Gubergrits NB, Mozhyna TL, Tsys OV, Rakhmetova VS
Wiad Lek 2023;76(5 pt 1):1121-1129. doi: 10.36740/WLek202305109. PMID: 37326098
Cozart M, Magnusson D, Mondal P, Gartner K
J Obstet Gynaecol Can 2022 May;44(5):521-526. Epub 2022 Jan 31 doi: 10.1016/j.jogc.2022.01.009. PMID: 35114380
Šedivá A, Milota T, Litzman J, Quinti I, Meyts I, Burns S, Jolles S
Allergy 2021 Dec;76(12):3841-3844. Epub 2021 Jun 12 doi: 10.1111/all.14961. PMID: 34037990
Periselneris J, Schelenz S, Loebinger M, Macedo P, Adhya Z, Armstrong-James D, Kelleher WP
Thorax 2021 Oct;76(10):1036-1039. Epub 2021 Feb 25 doi: 10.1136/thoraxjnl-2020-215585. PMID: 33632768
Cossu F
Ital J Pediatr 2010 Nov 15;36:76. doi: 10.1186/1824-7288-36-76. PMID: 21078154Free PMC Article

Therapy

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
Pettit AC, Phillips PPJ, Kurbatova E, Vernon A, Nahid P, Dawson R, Dooley KE, Sanne I, Waja Z, Mohapi L, Podany AT, Samaneka W, Savic RM, Johnson JL, Muzanyi G, Lalloo UG, Bryant K, Sizemore E, Scott N, Dorman SE, Chaisson RE, Swindells S; Tuberculosis Trials Consortium (TBTC) Study 31/AIDS Clinical Trials Group (ACTG) A5349 study team
Clin Infect Dis 2023 Feb 8;76(3):e580-e589. doi: 10.1093/cid/ciac707. PMID: 36041016Free 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

Ruffieux Y, Muchengeti M, Olago V, Dhokotera T, Bohlius J, Egger M, Rohner E
Clin Infect Dis 2023 Apr 17;76(8):1440-1448. doi: 10.1093/cid/ciac925. PMID: 36461916Free PMC Article
Gonzalez-Serna A, Macias J, Palacios R, Gómez-Ayerbe C, Tellez F, Rivero-Juárez A, Fernandez M, Santos J, Real LM, Gonzalez-Domenech CM, Gomez-Mateos J, Pineda JA; HEPAVIR study group
HIV Med 2021 May;22(5):379-386. Epub 2020 Dec 26 doi: 10.1111/hiv.13039. PMID: 33369104
Bieliauskiene G, Zaar O, Kolmodin I, Gillstedt M, Paoli J
Acta Derm Venereol 2020 Oct 28;100(17):adv00305. doi: 10.2340/00015555-3670. PMID: 33074339Free PMC Article
Mendiratta V, Mittal S, Jain A, Chander R
Indian J Dermatol Venereol Leprol 2010 Sep-Oct;76(5):458-66. doi: 10.4103/0378-6323.69041. PMID: 20826983
Schulz TF
Adv Cancer Res 1999;76:121-60. doi: 10.1016/s0065-230x(08)60775-7. PMID: 10218100

Clinical prediction guides

Erol Cipe F, Keskindemirci G
Minerva Pediatr (Torino) 2024 Feb;76(1):13-18. Epub 2020 Aug 4 doi: 10.23736/S2724-5276.20.05778-3. PMID: 32748607
Patel NC, Torgerson T, Thakar MS, Younger MEM, Sriaroon P, Pozos TC, Buckley RH, Morris D, Vilkama D, Heimall J
J Clin Immunol 2023 Oct;43(7):1557-1565. Epub 2023 Jun 2 doi: 10.1007/s10875-023-01482-y. PMID: 37266769Free PMC Article
Banting J, Meriano T
J Spec Oper Med 2017 Spring;17(1):76. doi: 10.55460/386W-D689. PMID: 28285484
Noar SM
AIDS Behav 2008 May;12(3):335-53. Epub 2007 Sep 21 doi: 10.1007/s10461-007-9313-9. PMID: 17896176
Deayton JR
Sex Transm Infect 2000 Oct;76(5):342-4. doi: 10.1136/sti.76.5.342. PMID: 11141848Free PMC Article

Recent systematic reviews

Sumner L, Kamitani E, Chase S, Wang Y
Cancer Epidemiol 2022 Feb;76:102069. Epub 2021 Dec 2 doi: 10.1016/j.canep.2021.102069. PMID: 34864578
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
Anyanwu NCJ, Ella EE, Ohwofasa A, Aminu M
Braz J Infect Dis 2018 May-Jun;22(3):224-234. Epub 2018 Jun 5 doi: 10.1016/j.bjid.2018.05.003. PMID: 29879426Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...