U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Immunodeficiency 105(IMD105)

MedGen UID:
1809425
Concept ID:
C5677005
Disease or Syndrome
Synonyms: IMD105; Immunodeficiency 105, severe combined
 
Gene (location): PTPRC (1q31.3-32.1)
 
Monarch Initiative: MONDO:0800104
OMIM®: 619924

Definition

Immunodeficiency-105 (IMD105) is an autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Manifestations may include pneumonia, dermatitis, and lymphadenopathy. B-cell lymphoma was reported in 1 patient. Laboratory studies show decreased or absent numbers of nonfunctional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. The disorder is caused by a deficiency of transmembrane protein CD45 (PTPRC) on leukocytes, which plays an important role in T- and B-cell development (Cale et al., 1997; Kung et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. [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.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Lymphopenia
MedGen UID:
7418
Concept ID:
C0024312
Disease or Syndrome
A reduced number of lymphocytes in the blood.
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.
Absence of lymph node germinal center
MedGen UID:
376112
Concept ID:
C1847383
Finding
Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.
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 B cell count
MedGen UID:
349067
Concept ID:
C1858972
Finding
An abnormal increase from the normal count of B cells.
T lymphocytopenia
MedGen UID:
419385
Concept ID:
C2931322
Finding
An abnormally low count of T cells.
Impaired lymphocyte transformation with phytohemagglutinin
MedGen UID:
871152
Concept ID:
C4025625
Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Decreased circulating antibody level
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Decreased circulating IgG level
MedGen UID:
1720114
Concept ID:
C5234937
Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Fever
MedGen UID:
5169
Concept ID:
C0015967
Sign or Symptom
Body temperature elevated above the normal range.

Professional guidelines

PubMed

Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource, Warnatz K, Grimbacher B; NIHR BioResource
J Allergy Clin Immunol 2020 Oct;146(4):901-911. Epub 2020 Apr 9 doi: 10.1016/j.jaci.2019.11.051. PMID: 32278790Free PMC Article
Devanathan AS, Anderson DJC, Cottrell ML, Burgunder EM, Saunders AC, Kashuba ADM
Clin Pharmacol Ther 2019 Jun;105(6):1362-1377. Epub 2019 Mar 25 doi: 10.1002/cpt.1393. PMID: 30739315
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785

Recent clinical studies

Etiology

Reimer-Mcatee M, Ramirez D, Mcatee C, Granillo A, Hasbun R
J Neurol 2023 Aug;270(8):3914-3933. Epub 2023 Apr 28 doi: 10.1007/s00415-023-11735-w. PMID: 37115358
Ren N, Li Y, Wan Z, Wang R, Zhang W, Dzakah EE, Zhang J, Li A, Fan S
JMIR Public Health Surveill 2022 Nov 17;8(11):e35785. doi: 10.2196/35785. PMID: 36394944Free PMC Article
Ku CL, Chi CY, von Bernuth H, Doffinger R
Hum Genet 2020 Jun;139(6-7):783-794. Epub 2020 May 17 doi: 10.1007/s00439-020-02180-0. PMID: 32419033Free PMC Article
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Gorbach PM, Javanbakht M, Bolan RK
AIDS Care 2018 Mar;30(3):300-304. Epub 2017 Aug 18 doi: 10.1080/09540121.2017.1366415. PMID: 28819988Free PMC Article

Diagnosis

Gupta SK, Berhe M, Crofoot G, Benson P, Ramgopal M, Sims J, McDonald C, Ruane P, Sanchez WE, Scribner A, Liu SY, VanderVeen LA, Dvory-Sobol H, Rhee MS, Baeten JM, Koenig E
Lancet HIV 2023 Jan;10(1):e15-e23. doi: 10.1016/S2352-3018(22)00291-0. PMID: 36566079
Bellanti JA, Settipane RA
Allergy Asthma Proc 2021 Mar 1;42(2):105-107. doi: 10.2500/aap.2021.42.210009. PMID: 33685554Free PMC Article
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Flexner C
Clin Pharmacol Ther 2019 Jan;105(1):61-70. doi: 10.1002/cpt.1284. PMID: 30411787
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785

Therapy

Gupta SK, Berhe M, Crofoot G, Benson P, Ramgopal M, Sims J, McDonald C, Ruane P, Sanchez WE, Scribner A, Liu SY, VanderVeen LA, Dvory-Sobol H, Rhee MS, Baeten JM, Koenig E
Lancet HIV 2023 Jan;10(1):e15-e23. doi: 10.1016/S2352-3018(22)00291-0. PMID: 36566079
Bellanti JA, Settipane RA
Allergy Asthma Proc 2021 Mar 1;42(2):105-107. doi: 10.2500/aap.2021.42.210009. PMID: 33685554Free PMC Article
Flexner C
Clin Pharmacol Ther 2019 Jan;105(1):61-70. doi: 10.1002/cpt.1284. PMID: 30411787
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
Cristalli G, Costanzi S, Lambertucci C, Lupidi G, Vittori S, Volpini R, Camaioni E
Med Res Rev 2001 Mar;21(2):105-28. doi: 10.1002/1098-1128(200103)21:2<105::aid-med1002>3.0.co;2-u. PMID: 11223861

Prognosis

Gupta SK, Berhe M, Crofoot G, Benson P, Ramgopal M, Sims J, McDonald C, Ruane P, Sanchez WE, Scribner A, Liu SY, VanderVeen LA, Dvory-Sobol H, Rhee MS, Baeten JM, Koenig E
Lancet HIV 2023 Jan;10(1):e15-e23. doi: 10.1016/S2352-3018(22)00291-0. PMID: 36566079
Yimer NB, Mohammed MA, Solomon K, Tadese M, Grutzmacher S, Meikena HK, Alemnew B, Sharew NT, Habtewold TD
Public Health 2021 Jun;195:105-111. Epub 2021 May 31 doi: 10.1016/j.puhe.2021.04.014. PMID: 34082174
Flexner C
Clin Pharmacol Ther 2019 Jan;105(1):61-70. doi: 10.1002/cpt.1284. PMID: 30411787
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
Baxter C, Moodley D
S Afr Med J 2015 Nov;105(11):948-52. doi: 10.7196/samj.2015.v105i11.10126. PMID: 26937508

Clinical prediction guides

Alao MA, Ibrahim OR, Chan YH
Niger J Clin Pract 2022 Jan;25(1):105-109. doi: 10.4103/njcp.njcp_466_20. PMID: 35046203
Yimer NB, Mohammed MA, Solomon K, Tadese M, Grutzmacher S, Meikena HK, Alemnew B, Sharew NT, Habtewold TD
Public Health 2021 Jun;195:105-111. Epub 2021 May 31 doi: 10.1016/j.puhe.2021.04.014. PMID: 34082174
Mäntylä J, Mazur W, Törölä T, Bergman P, Saarinen T, Kauppi P
Respir Med 2019 Jun;152:105-111. Epub 2019 Apr 30 doi: 10.1016/j.rmed.2019.04.022. PMID: 31128603
Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, Longhurst HJ, Patel SY, Renzoni EA, Sander CR, Avery GR, Babar JL, Buckland MS, Burns S, Egner W, Gompels MM, Gordins P, Haddock JA, Hart SP, Hayman GR, Herriot R, Hoyles RK, Huissoon AP, Jacob J, Nicholson AG, Rassl DM, Sargur RB, Savic S, Seneviratne SL, Sheaff M, Vaitla PM, Walters GI, Whitehouse JL, Wright PA, Condliffe AM
J Allergy Clin Immunol Pract 2017 Jul-Aug;5(4):938-945. Epub 2017 Mar 25 doi: 10.1016/j.jaip.2017.01.021. PMID: 28351785
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490

Recent systematic reviews

Adugna Wubneh C, Dessalegn Mekonnen B, Wesenyeleh Delelegn M, Asmare Atalell K
Public Health 2022 Oct;211:105-113. Epub 2022 Sep 1 doi: 10.1016/j.puhe.2022.07.016. PMID: 36058198
Yimer NB, Mohammed MA, Solomon K, Tadese M, Grutzmacher S, Meikena HK, Alemnew B, Sharew NT, Habtewold TD
Public Health 2021 Jun;195:105-111. Epub 2021 May 31 doi: 10.1016/j.puhe.2021.04.014. PMID: 34082174
Wang ZD, Liu Q, Liu HH, Li S, Zhang L, Zhao YK, Zhu XQ
Parasit Vectors 2018 Jan 9;11(1):28. doi: 10.1186/s13071-017-2558-x. PMID: 29316950Free PMC Article
Hassan AS, Pybus OG, Sanders EJ, Albert J, Esbjörnsson J
AIDS 2017 Jun 1;31(9):1211-1222. doi: 10.1097/QAD.0000000000001470. PMID: 28353537Free PMC Article
Plessis SD, Vink M, Joska JA, Koutsilieri E, Stein DJ, Emsley R
AIDS 2014 Mar 27;28(6):803-11. doi: 10.1097/QAD.0000000000000151. PMID: 24300546

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...