Liston A, Enders A, Siggs OM. Unravelling the association of partial T-cell immunodeficiency and immune dysregulation. Nat Rev Immunol. 2008 Jul. 8(7):545-58. [Medline].
Fernandes NF, Rozdeba PJ, Schwartz RA, Kihiczak G, Lambert WC. Pityriasis lichenoides et varioliformis acuta: a disease spectrum. Int J Dermatol. 2010 Mar. 49(3):257-61. [Medline].
Liang J, Qu H, Wang X, Wang A, Liu L, Tu P, et al. Drug Reaction with Eosinophilia and Systemic Symptoms Associated with Reactivation of Epstein-Barr Virus and/or Cytomegalovirus Leading to Hemophagocytic Syndrome in One of Two Patients. Ann Dermatol. 2018 Feb. 30 (1):71-74. [Medline].
Harrington L, Sokol L, Holdener S, Shao H, Zhang L. J Cutaneous Pathology Cutaneous Gamma-delta (?d) T-cell Lymphoma with Central Nervous System (CNS) Involvement: Report of a Rarity with Review of Literature. J Cutan Pathol. 2014 Oct 8. [Medline].
Foppoli M, Ferreri AJ. Gamma-delta t-cell lymphomas. Eur J Haematol. 2014 Aug 23. [Medline].
Martinez-Escala ME, Sidiropoulos M, Deonizio J, Gerami P, Kadin ME, Guitart J. ?d T cell-rich variants of pityriasis lichenoides and lymphomatoid papulosis: benign cutaneous disorders to be distinguished from aggressive cutaneous ?d T cell lymphomas. Br J Dermatol. 2014 Aug 21. [Medline].
McGeachy MJ. Th17 memory cells: live long and proliferate. J Leukoc Biol. 2013 Sep 4. [Medline].
Fischer A, Cavazzana-Calvo M, De Saint Basile G, DeVillartay JP, Di Santo JP, Hivroz C, et al. Naturally occurring primary deficiencies of the immune system. Annu Rev Immunol. 1997. 15:93-124. [Medline].
Holst J, Wang H, Eder KD, et al. Scalable signaling mediated by T cell antigen receptor-CD3 ITAMs ensures effective negative selection and prevents autoimmunity. Nat Immunol. 2008 Jun. 9(6):658-66. [Medline].
Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009. 84(1):16-22. [Medline]. [Full Text].
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011 Jan. 90(1):1-18. [Medline].
Korgavkar K, Xiong M, Weinstock M. Changing Incidence Trends of Cutaneous T-Cell Lymphoma. JAMA Dermatol. 2013 Sep 4. [Medline].
Chen Z, Ye W, Long Z, Ding D, Peng H, Hou X, et al. Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. PLoS One. 2015. 10 (10):e0139738. [Medline].
Al-Muhsen SZ. Delayed presentation of severe combined immunodeficiency due to prolonged maternal T cell engraftment. Ann Saudi Med. 2010 May-Jun. 30(3):239-42. [Medline].
Harp J, Coggshall K, Ruben BS, Ramírez-Valle F, He SY, Berger TG. Cutaneous granulomas in the setting of primary immunodeficiency: a report of four cases and review of the literature. Int J Dermatol. 2015 Jun. 54 (6):617-25. [Medline].
Privette ED, Ram G, Treat JR, Yan AC, Heimall JR. Healing of granulomatous skin changes in ataxia-telangiectasia after treatment with intravenous immunoglobulin and topical mometasone 0.1% ointment. Pediatr Dermatol. 2014 Nov-Dec. 31 (6):703-7. [Medline].
Liao CY, Yu HW, Cheng CN, Chen JS, Lin CW, Chen PC, et al. A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing. J Microbiol Immunol Infect. 2018 Mar 2. [Medline].
Shi M, Rech KL, Otteson GE, Horna P, Olteanu H, Pardanani A, et al. Prevalence and spectrum of T-cell lymphoproliferative disorders in patients with Hypereosinophilia: A reference laboratory experience. Ann Diagn Pathol. 2020 Feb. 44:151412. [Medline].
Pachlopnik Schmid J, Güngör T, Seger R. Modern management of primary T-cell immunodeficiencies. Pediatr Allergy Immunol. 2014 Jun. 25 (4):300-13. [Medline].
Torres-Cabala CA. Diagnosis of T-cell lymphoid proliferations of the skin: putting all the pieces together. Mod Pathol. 2020 Jan. 33 (Suppl 1):83-95. [Medline].
Cavazzana-Calvo M, Lagresle C, Hacein-Bey-Abina S, Fischer A. Gene therapy for severe combined immunodeficiency. Annu Rev Med. 2005. 56:585-602. [Medline].
Chinen J, Puck JM. Perspectives of gene therapy for primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2004 Dec. 4(6):523-7. [Medline].
Dupre L, Marangoni F, Scaramuzza S, Trifari S, Hernández RJ, Aiuti A. Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation. Hum Gene Ther. 2006 Mar. 17(3):303-13. [Medline].
Norton RS, Pennington MW, Wulff H. Potassium channel blockade by the sea anemone toxin ShK for the treatment of multiple sclerosis and other autoimmune diseases. Curr Med Chem. 2004 Dec. 11(23):3041-52. [Medline].
Lee E, Sinha AA. T cell targeted immunotherapy for autoimmune disease. Autoimmunity. 2005 Dec. 38(8):577-96. [Medline].
Trenado A, Fisson S, Braunberger E, et al. Ex vivo selection of recipient-type alloantigen-specific CD4(+)CD25(+) immunoregulatory T cells for the control of graft-versus-host disease after allogeneic hematopoietic stem-cell transplantation. Transplantation. 2004 Jan 15. 77(1 Suppl):S32-4. [Medline].
Le Blanc K, Ringden O. Immunobiology of human mesenchymal stem cells and future use in hematopoietic stem cell transplantation. Biol Blood Marrow Transplant. 2005 May. 11(5):321-34. [Medline].
Bacigalupo A. Antithymocyte globulin for prevention of graft-versus-host disease. Curr Opin Hematol. 2005 Nov. 12(6):457-62. [Medline].
Hooper JA. Intravenous Immunoglobulins: Evolution of Commercial IVIG Preparations. Immunol Allergy Clin North Am. 2008 Nov. 28(4):765-78. [Medline].
Lacy CF, Armstrong LL, Goldman MP, Lance LL, eds. Drug Information Handbook 2008-2009. 16th edition. Cleveland, OH: Lexi-Comp Inc; 2008.
Shah S. Pharmacy considerations for the use of IGIV therapy. Am J Health Syst Pharm. 2005 Aug 15. 62(16 Suppl 3):S5-11. [Medline].
Siegel J. The Product: All intravenous immunoglobulins are not equivalent. Pharmacother. 2005. 25(11 Pt 2):78S-84S.
Markert ML, Devlin BH, McCarthy EA. Thymus transplantation. Clin Immunol. 2010 May. 135(2):236-46. [Medline].
Passeri E, Frigerio M, Valaperta R, Costa E, Ambrosi B, Corbetta S. Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome. J Endocrinol Invest. 2010 Dec. 33(11):852-3. [Medline].
Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM. DiGeorge Syndrome: a not so rare disease. Clinics (Sao Paulo). 2010. 65(9):865-9. [Medline]. [Full Text].
Yoshimitsu M, White Y, Arima N. Prevention of human T-cell lymphotropic virus type 1 infection and adult T-cell leukemia/lymphoma. Recent Results Cancer Res. 2014. 193:211-25. [Medline].
Kutukculer N, Gulez N. The outcome of patients with unclassified hypogammaglobulinemia in early childhood. Pediatr Allergy Immunol. 2009 Jan 31. [Medline].
Callens C, Baleydier F, Lengline E, Ben Abdelali R, Petit A, Villarese P, et al. Clinical Impact of NOTCH1 and/or FBXW7 Mutations, FLASH Deletion, and TCR Status in Pediatric T-Cell Lymphoblastic Lymphoma. J Clin Oncol. 2012 Apr 30. [Medline].
Ally MS, Pawade J, Tanaka M, Morris S, Mitchell T, Child F, et al. Solitary mycosis fungoides: A distinct clinicopathologic entity with a good prognosis: A series of 15 cases and literature review. J Am Acad Dermatol. 2012 Apr 23. [Medline].
An Y, Jiang W, Andraos TY, Reddy JP, Yehia ZA, Lloyd S, et al. Multi-institutional Investigation: Circulating CD4:CD8 ratio is a prognosticator of response to total skin electron beam radiation in mycosis fungoides. Radiother Oncol. 2019 Feb. 131:88-92. [Medline].
Bakar O, Sahin S, Cetinözman F, Willemze R, Tezcanli E, Cetin ED. Tumor-stage mycosis fungoides of the vulva successfully treated with local low-dose radiotherapy. Dermatol Ther. 2014 Oct 14. [Medline].
Bennett CL, Christie J, Ramsdell F, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001 Jan. 27(1):20-1. [Medline].
Bennett CL, Yoshioka R, Kiyosawa H, et al. X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. Am J Hum Genet. 2000 Feb. 66(2):461-8. [Medline].
[Guideline] Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. 2005 May. 94(5 Suppl 1):S1-63. [Medline].
Brunkow ME, Jeffery EW, Hjerrild KA, et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet. 2001 Jan. 27(1):68-73. [Medline].
Chatila TA. Role of regulatory T cells in human diseases. J Allergy Clin Immunol. 2005 Nov. 116(5):949-59; quiz 960. [Medline].
Chatila TA, Blaeser F, Ho N, et al. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. J Clin Invest. 2000 Dec. 106(12):R75-81. [Medline].
Driscoll DA, Sullivan KE. DiGeorge syndrome: a chromosome 22q11.2 deletion syndrome. Ochs HD, Smith CI, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford University Press; 1999. 198-208.
Ferguson PJ, Blanton SH, Saulsbury FT, et al. Manifestations and linkage analysis in X-linked autoimmunity- immunodeficiency syndrome. Am J Med Genet. 2000 Feb 28. 90(5):390-7. [Medline].
Garcia-Lloret M, McGhee S, Chatila TA. Immunoglobulin replacement therapy in children. Immunol Allergy Clin North Am. 2008 Nov. 28(4):833-49. [Medline]. [Full Text].
Lavin MF, Shiloh Y. Ataxia-telangiectasia. Ochs HD, Smith CI, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford University Press; 1999. 306-23.
Puck JM, Straus SE, Le Deist F. Inherited disorders with autoimmunity and defective lymphocyte regulation. Ochs HD, Smith CI, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford University Press; 1999. 339-52.
Regueiro JR, Pacheco A, Alvarez-Zapata D. CD3 deficiencies. Ochs HD, Smith CI, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. Oxford University Press; 1999. 189-97.
Sanal O, Ersoy F, Yel L, et al. Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia. J Clin Immunol. 1999 Sep. 19(5):326-34. [Medline].
Schwartz SA. Intravenous immunoglobulin treatment of immunodeficiency disorders. Pediatr Clin North Am. 2000 Dec. 47(6):1355-69. [Medline].
Thampakkul S, Ballow M. Replacement intravenous immune serum globulin therapy in patients with antibody immune deficiency. Immunol Aller Clin North Am. 2001. 21(1):165. [Full Text].
Wildin RS, Ramsdell F, Peake J, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet. 2001 Jan. 27(1):18-20. [Medline].

Media Gallery

This patient was diagnosed with ataxia telangiectasia (AT) when she presented at age 6 years. The family was concerned about the increased frequency of sinusitis during the past winter, and she was noted to have poor balance. Findings in her eyes had been explained as conjunctivitis since age 4 years.
A prominent site for telangiectasia in classic ataxia telangiectasia is the pinna.
Malformation of the pinna
Giant lysosomes.

of 4

Table. Immune Globulin, Intravenous^[29, 30, 31, 32]

Table. Immune Globulin, Intravenous ^{[29, 30, 31, 32]}

Brand(Manufacturer)	Manufacturing Process	pH	Additives (IVIG products containing sucrose are more often associated with renal dysfunction, acute renal failure, and osmotic nephrosis, particularly with preexisting risk factors [eg, history of renal insufficiency, diabetes mellitus, age >65 y, dehydration, sepsis, paraproteinemia, nephrotoxic drugs].)	Parenteral Form and Final Concentrations	IgA Content mcg/mL
Carimune NF (CSL Behring)	Kistler-Nitschmann fractionation; pH 4 nanofiltration	6.4-6.8	6% solution: 10% sucrose, < 20 mg NaCl/g protein	Lyophilized powder 3%, 6%, 9%, 12%	720
Flebogamma (Grifols USA)	Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization	5.1-6	Sucrose free, contains 5% D-sorbitol	Liquid 5%	< 50
Gammagard Liquid 10% (Baxter Bioscience)	Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation	4.6-5.1	0.25M glycine	Ready-for-use liquid 10%	37
Gamunex (Talecris Biotherapeutics)	Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation	4-4.5	Does not contain carbohydrate stabilizers (eg, sucrose, maltose), contains glycine	Liquid 10%	46
Iveegam EN (Baxter Bioscience)	Cohn-Oncley fraction II/III; ultrafiltration; pasteurization	6.4-7.2	5% solution: 5% glucose, 0.3% NaCl	Lyophilized powder 5%	< 10
Polygam S/D Gammagard S/D (Baxter Bioscience for the American Red Cross)	Cohn-Oncley cold ethanol fractionation, followed by ultracentrafiltration and ion exchange chromatography; solvent detergent treated	6.4-7.2	5% solution: 0.3% albumin, 2.25% glycine, 2% glucose	Lyophilized powder 5%, 10%	< 1.6 (5% solution)
Octagam (Octapharma USA) 9/24/10: Withdrawn from market because of unexplained reports of thromboembolic events	Cohn-Oncley fraction II/III; ultrafiltration; low pH incubation; S/D treatment pasteurization	5.1-6	10% maltose	Liquid 5%	200
Panglobulin (Swiss Red Cross for the American Red Cross)	Kistler-Nitschmann fractionation; pH 4 incubation; trace pepsin; nanofiltration	6.6	Per gram of IgG: 1.67 g sucrose, < 20 mg NaCl	Lyophilized powder 3%, 6%, 9%, 12%	720
Privigen Liquid 10% (CSL Behring)	Cold ethanol fractionation, octanoic acid fractionation, and anion exchange chromatography; pH 4 incubation and depth filtration	4.6-5	L-proline (~250 mmol/L) as stabilizer; trace sodium; does not contain carbohydrate stabilizers (eg, sucrose, maltose)	Ready-for use liquid 10%	< 25

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Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

Robert Y Lin, MD Professor, Department of Medicine, New York Medical College; Chief, Allergy and Immunology, and Director of Utilization Review, Department Medicine, New York Downtown Hospital

Robert Y Lin, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, New York Allergy & Asthma Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David J Valacer, MD

David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD Faculty, Division of Allergy/Immunology and Infectious Diseases, Department of Pediatrics, Saint Peter's University Hospital

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Pediatric Research, Society for Mucosal Immunology

Disclosure: Nothing to disclose.

Additional Contributors

Terry W Chin, MD, PhD Associate Clinical Professor, Department of Pediatrics, University of California, Irvine, School of Medicine; Associate Director, Cystic Fibrosis Center, Attending Staff Physician, Department of Pediatric Pulmonology, Allergy, and Immunology, Memorial Miller Children's Hospital

Terry W Chin, MD, PhD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American College of Chest Physicians, American Federation for Clinical Research, American Thoracic Society, California Society of Allergy, Asthma and Immunology, California Thoracic Society, Clinical Immunology Society, Los Angeles Pediatric Society, Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Ann O'Neill Shigeoka, MD, to the development and writing of this article.

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