Publications on PID

Miscellaneous

PID Publications from PGI, Chandigarh

2019-20

1. Rawat A, Arora K, Shandilya J, Vignesh P, Suri D, Kaur G, Rikhi R, Joshi V, Das J, Mathew B and Singh S (2019) Flow Cytometry for Diagnosis of Primary Immune Deficiencies—A Tertiary Center Experience from North India. Front. Immunol. 10:2111. doi: 10.3389/fimmu.2019.02111

2. Jha S, Mittal S, Kumar RR, Dhooria A, Rawat A, Dhir V. An unusual cause of deforming erosive arthritis in an adult. Rheumatology (Oxford). 2019 Aug 4. pii:kez312. doi: 10.1093/rheumatology/kez312. [Epub ahead of print]

3. Vignesh P, Sharma M, Pilania RK, Shandilya JK, Kaur A, Goel S, Kaur A, Suri D, Rawat A, Dalal A, Sarma AS, Singh S. Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect. J Clin Immunol.2019;39:611-615

4. Jindal AK, Pilania RK, Suri D, Gupta A, Gattorno M, Ceccherini I, Kumar N, Bansal R, Nada R, Singh S. A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. Rheumatol Int. 2019 May 6. doi: 10.1007/s00296-019-04316-6. [Epub ahead of print]

5. Rawat A, Vignesh P, Kaur A. When Transient Lymphopenia Mimics SCID! Indian J Pediatr. 2019;86:574-575

6. Jindal AK, Suri D, Guleria S, Rawat A, Garg S, Bal A, Casanova JL, Bustamante J, Singh S. Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency. J Clin Immunol. 2019;39(4):358-362

7. Pilania RK, Prithvi A, Nambiyar K, Gupta K, Rawat A. Revisiting Fatal Granulomatous Disease of Childhood Through an Autopsy: Still Lethal in the Developing World! J Clin Immunol.2019;39:358-362

2018-19

1. Pilania RK, Rawat A. Purine Nucleoside Phosphorylate Deficiency Severe Combined Immunodeficiency in an Infant: Subtle Diagnostic Clues. Indian Pediatr. 2019;56:146.

2. Rikhi R, Bhattad S, Jindal A, Saikia B, Garg R, Rawat A, Suri D, Singh S. Monoclonal Gammopathy of Unclear Significance in a Child with Wiskott-Aldrich Syndrome: a Rare Occurrence. J Clin Immunol. 2019 Jan 3. doi:10.1007/s10875-018-0585-9

3. Pandiarajan V, Gupta A, Rowczenio D, Hawkins P, Muralidaran C, Tiewsoh K, Nada R. Nephrotic Syndrome as a Presenting Feature in a Child With NLRP3 Mutation. J Clin Rheumatol. 2018 Nov 14. doi: 10.1097/RHU.0000000000000942.

4. Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, Gupta A, Goel S,Karim A, Saikia B, Minz RW, Imai K, Nonoyama S, Ohara O, Giliani SC, Notarangelo LD, Chan KW, Lau YL, Singh S. Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India. Clin Immunol. 2018 Jul 24. pii:S1521-6616(18)30315-2.

5. Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS; European Society for Immunodeficiencies; Clinical Immunology Society; African Society for Immunodeficiencies; Latin American Society for Immunodeficiencies; Asia Pacific Society for Immunodeficiencies. The International Alliance of Primary Immune Deficiency Societies. J Clin Immunol.2018 Jun 5. doi: 10.1007/s10875-018-0517-8. [Epub ahead of print]

6. Vignesh P, Rawat A, Gupta A. An Infant with Suppurative Adenitis, Nonhealing Wound, and Perianal Sinus. J Allergy Clin Immunol Pract. 2018 Jun 19. pii:S2213-2198(18)30344-1.

7. Goel S, Sahu S, Minz RW, Singh S, Suri D, Oh YM, Rawat A, Sehgal S, Saikia B. STAT3 mediated transcriptional regulation of osteopontin in STAT3 loss-of-function related Hyper IgE Syndrome. Front. Immunol. 2018 May 17;9:1080.

2017-18

1. Sharma D, Jindal AK, Rawat A, Singh S. Approach to a Child with Primary Immunodeficiency Made Simple. Indian Dermatol Online J. 2017 Nov-Dec;8(6):391-405.

2. Gupta K, Rawat A, Agrawal P, Jindal A, Nada R, Saikia B, Chan KW, Lau YL, Minz RW, Singh S. Infectious and non-infectious complications in primary immunodeficiency disorders: an autopsy study from North India. J Clin Pathol.2017 Sep 28.

3. Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA,Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A,Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators, Barbouche MR, McKinlay MA. Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.Front Immunol. 2017 Jun 13;8:685

4. Mendonca LO, Malle L, Donovan FX, Chandrasekharappa SC, Montealegre Sanchez GA, Garg M, Tedgard U, Castells M, Saini SS, Dutta S, Goldbach-Mansky R, Suri D, Jesus AA. Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN. J Clin Immunol. 2017;37:445-451

5. Rawat A, Karuthedath Vellarikkal S, Verma A, Jayarajan R, Gupta A, Singh S,Chopra A, Kumar R, Scaria V, Sivasubbu S. Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia. Version 2. F1000Res. 2016 Nov 14

6. Sharma D, Gupta A, Goel S, Sharma M, Rawat A, Singh S. Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis. Clin Immunol. 2017 Aug 11

7. Sullivan KE, Bassiri H, Bousfiha AA, Costa-Carvalho BT, Freeman AF, Hagin D,Lau YL, Lionakis MS, Moreira I, Pinto JA, de Moraes-Pinto MI, Rawat A, Reda SM,Reyes SOL, Seppänen OM, Tang MLK. Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies. J Clin Immunol.2017 Aug 7

8. Jindal AK, Rawat A, Sharma A, Dogra S, Suri D, Singh S. Psoriasis: An Unusual Autoimmune Manifestation in a Boy with Common Variable Immunodeficiency. Indian Dermatol Online J. 2017;8:292-294

9. Luk ADW, Lee PP, Mao H, Chan KW, Chen XY, Chen TX, He JX, Kechout N, Suri D,Tao YB, Xu YB, Jiang LP, Liew WK, Jirapongsananuruk O, Daengsuwan T, Gupta A,Singh S, Rawat A, Abdul Latiff AH, Lee ACW, Shek LP, Nguyen TVA, Chin TJ, Chien YH, Latiff ZA, Le TMH, Le NNQ, Lee BW, Li Q, Raj D, Barbouche MR, Thong MK, Ang MCD, Wang XC, Xu CG, Yu HG, Yu HH, Lee TL, Yau FYS, Wong WH, Tu W, Yang W, Chong PCY, Ho MHK, Lau YL. Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. Front Immunol. 2017 Jul 12;8:808.

10. Jindal AK, Rawat A. Cupping at the ends of ribs is not always rickets. BMJ Case Rep. 2017 Jul 6;2017

11. Jindal AK, Pilania RK, Rawat A, Singh S. Primary Immunodeficiency Disorders in India-A Situational Review. Front Immunol. 2017 Jun 19;8:714

12. Sharma D, Guleria S, Suri D, Rawat A, Garg R, Singh S. A child with X-linked agammaglobulinemia and Kawasaki disease: an unsual association. Rheumatol Int. 2017 Apr 1

2016-17

1. Jindal AK, Rawat A, Suri D, Sharma M, Shandilya JK, Goel S, Sodhi KS, Singh S. Severe Aspergillus Pneumonia and Pulmonary Artery Hypertension in a Child with Autosomal Recessive Chronic Granulomatous Disease and Selective IgA Deficiency. J Clin Immunol. 2017 Mar 24

2. Rawat A, Vignesh P, Sharma A, Shandilya JK, Sharma M, Suri D, Gupta A, Gautam V, Ray P, Rudramurthy SM, Chakrabarti A, Imai K, Nonoyama S, Ohara O, Lau YL,Singh S. Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India. J Clin Immunol. 2017 Mar 22

3. Suri D, Bhattad S, Sharma A, Gupta A, Rawat A, Sehgal S, Singh S, Gupta S.Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children. J Clin Immunol. 2017 Mar 21

4. Saikia B, Goel S, Suri D, Minz RW, Rawat A, Singh S. Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. Indian J Pediatr. 2017 Mar 18

5. van Os NJ, Jansen AF, van Deuren M, Haraldsson A, van Driel NT, Etzioni A, van der Flier M, Haaxma CA, Morio T, Rawat A, et al. Ataxia-telangiectasia: Immunodeficiency and survival. Clin Immunol. 2017 Jan 24. pii: S1521-6616(16)30390-4.

6. Khullar G, Vignesh P, Lau YL, Rudramurthy SM, Rawat A, De D, Handa S, Singh S.Chronic Mucocutaneous Candidiasis. J Allergy Clin Immunol Pract. 2017 Jan 5. pii:S2213-2198(16)30583-9. doi:10.1016/j.jaip.2016.11.025. [Epub ahead of print]

7. Vignesh P, Gupta A, Dogra S. Malar Rash in a Child with Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2016 Dec 22. pii: S2213-2198(16)30571-2.doi: 10.1016/j.jaip.2016.11.013. [Epub ahead of print]

8. Vignesh P, Rawat A, Kumar A, Suri D, Gupta A, Lau YL, Chan KW, Singh S.Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families. J Clin Immunol. 2016 Dec 29. doi:10.1007/s10875-016-0366-2. [Epub ahead of print]

9. Vignesh P, Rawat A, Singh S. An Update on the Use of Immunomodulators in Primary Immunodeficiencies. Clin Rev Allergy Immunol. 2016 Nov 21.

10. Singh S, Rawat A, Suri D, Gupta A, Garg R, Saikia B, Minz RW, Sehgal S, Chan KW, Lau YL, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O. X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. Ann Allergy Asthma Immunol. 2016 Sep 1.

11. Vignesh P, Suri D, Rawat A, Lau YL, Bhatia A, Das A, Srinivasan A, Dhandapani S. Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott-Aldrich syndrome. Pediatr Blood Cancer. 2016 Aug 27.

12. Kumar A, Gupta A, Rawat A, Ahuja C, Suri D, Singh S. Brain Abscess in a child with Leucocyte Adhesion Defect: An unusual association. J Clin Immunol. 2016 July 15 [Epub ahead of print]

13. Vignesh P, Bhattad S, Shandilya JK, Vyas S, Garg R, Rawat A. Vertebral Osteomyelitis and Acinetobacter Spp. Paravertebral Soft Tissue Infection in a 4 Year-Old Boy with X-Linked Chronic Granulomatous Disease. Pediatr Infect Dis J. 2016 May 12.[Epub ahead of print]

14. Bhattad S, Vignesh P, Rawat A, Suri D, Gupta A, Vyas S, Singh S.Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. J Clin Immunol. 2016;36:360-2.

15. Singh S, Gupta S. Primary Immunodeficiency Diseases: Need for Awareness and Advocacy in India. Indian J Pediatr. 2016 Apr;83(4):328-30.

16. Sharma S, Saikia B, Goel S, Rawat A, Minz RW, Suri D, Chhabra S, Singh S.Th17 Cells in STAT3 Related Hyper-IgE Syndrome. Indian J Pediatr. 2016 May 26

17. Suri D, Rawat A, Singh S. X-linked Agammaglobulinemia. Indian J Pediatr.2016;83:331-7.

18. Rawat A, Bhattad S, Singh S. Chronic Granulomatous Disease. Indian J Pediatr. 2016;83:345-53

2015-16

1. Bhattad S, Rawat A, Gupta A, Suri D, Garg R, de Boer M, Kuijpers TW, Singh S. Early Complement Component Deficiency in a Single-Centre Cohort of Pediatric Onset Lupus. J Clin Immunol. 2015; 35:777-85.

2. Madkaikar M, Italia K, Gupta M, Desai M, Aggarwal A, Singh S, Suri D, Mishra A, Chavan S, Ghosh K, Sarangal R, Dogra S. Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions. J Clin Immunol. 2015;35:431-4

3. Madkaikar M, Italia K, Gupta M, Chavan S, Mishra A, Rao M, Mhatre S, Desai M, Manglani M, Singh S, Suri D, Agrawal A, Ghosh K. Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations. Blood Cells Mol Dis. 2015;54:217-23.

4. Panigrahi I, Suthar R, Rawat A, Behera B. Seizure as the presenting manifestation in Griscelli syndrome type 2. Pediatr Neurol. 2015;52:535-8.

5. Bhattad S, Rawat A, Gupta A, Suri D, Saikia B, Minz RW, Sodhi KS, Singh S. Budd-Chiari Syndrome in a Child With Leukocyte Adhesion Deficiency-A Rare Association. Pediatr Blood Cancer.2015;62:2244

6. Rawat A, Imai K, Suri D, Gupta A, Bhisikar S, Saikia B, Minz RW, Sehgal S, Singh S. Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. Indian J Pediatr. 2016;83:270-1.

7. Gupta K, Suri D, Sharma A, Rawat A, Singh S. An Infant with Prolonged Fever. Indian Pediatr. 2015;52:601-6.

2014-15

1. Rawat A, Dhir V, Gupta A, Suri D, Burad DK, Nada R, Singh S. Good’s syndrome presenting with recurrent giardiasis”. J Clin Immunol. 2014 ;34:751-2

2. Saikia B, Suri D, Goel S, Rawat A, Minz RW, Gupta A, Sharma S, Ohara O, Imai K, Nonoyama S, Sehgal S, Singh S. Hyper-IgE syndrome with a novel STAT3 mutation-a single center study from India. Asian Pac J Allergy Immunol.2014;32:321-7.

3. Dhir V, Sagar V, Aggarwal A, Rawat A, Singhal M. An unusual cause of recurrent pneumonia in adults. Lung India. 2014;31:296-8.

4. Saini AG, Nagaraju S, Sahu JK, Rawat A, Vyas S, Singhi P. Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis. Neurology.2014;82:e122-3.

5. Gupta K, Singh S, Sharma D, Singh MP, Singh M. An infant with repeated respiratory infections and failure to thrive. Indian Pediatr. 2014;51:819-26.

2013-14

1. Rawat A, Singh S, Suri D, Gupta A, Saikia B, Minz RW, Sehgal S, Vaiphei K, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Chan KW, Lau YL. Chronic granulomatous disease: two decades of experience from a tertiary care centre in North West India. J Clin Immunol. 2014;34:58-67.

2. Rawat A, Suri D, Gupta A, Saikia B, Minz RW, Singh S. Isolated immunoglobulin G4 subclass deficiency in a child with bronchiectasis. Indian J Pediatr. 2014;81:932-3.

2012-13

1. Suri D, Singh S, Rawat A, Gupta A, Kamae C, Honma K, Nakagawa N, Imai K,Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Bilhou-Nabera C, Proust A, Ahluwalia J, Dogra S, Saikia B, Minz RW, Sehgal S. Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India. Asian Pac J Allergy Immunol. 2012;30:71-8.

2. Kaushik S, Singh R, Gupta A, Singh S, Suri D, Sarpal N, Pandav SS. Unilateral recalcitrant glaucoma associated with cytomegalovirus in an immunocompromised child with Wiskott-Aldrich syndrome. J Am Assoc Ped Ophthal Strab. 2013 Dec;17(6):646-7.

2011-12

1. Gupta S, Madkaikar M, Singh S, Sehgal S. Primary immunodeficiencies in India: a perspective. Ann N Y Acad Sci.2012;1250:73-9.

2. Chandrakasan S, Singh S, Dogra S, Delaunay J, Proust A, Minz RW. Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis. Pediatr Blood Cancer. 2011 ;56:1130-2.

3. Nakagawa N, Imai K, Kanegane H, Sato H, Yamada M, Kondoh K, Okada S, Kobayashi M, Agematsu K, Takada H, Mitsuiki N, Oshima K, Ohara O, Suri D, Rawat A, Singh S, Pan-Hammarström Q, Hammarström L, Reichenbach J, Seger R, Ariga T, Hara T,Miyawaki T, Nonoyama S. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol. 2011;128:223-225.

4. Rawat A, Singh S, Sharma D, Suri D, Rajwanshi A, Etzioni A. Amyloidosis in a child with leucocyte adhesion deficiency type-1: an unusual association. Indian J Pediatr. 2011;78:1546-8.

2009-10

1. Bal A, Gupta A, Sodhi KS, Das A, Singh S. Multifocal extranodal non-Hodgkin lymphoma involving both the lungs and brain in a child with primary immunodeficiency. J Pediatr Hematol Oncol. 2008 A;30:317-9

2. Bal A, Rawat A, Nada R, Singh S. A 12-year-old boy with X-linked agammaglobulinaemia who had breakthrough infection, thrombocytopenia and acute renal failure. Natl Med J India. 2009 Nov-Dec;22(6):310-6.

1990s

1. Turner MW, Super M, Singh S, Levinsky RJ. Molecular basis of a common opsonic defect. Clin Exp Allergy.1991;21 Suppl 1:182-8.

2. Finn A, Strobel S, Morgan G, Singh S, Cant A, Levinsky RJ. A working classification of immunodeficiency and associated infections for the clinician. Immunology and Infectious Diseases 1991, 1: 247-250.

3. Datta U, Sehgal S, Kumar L, Kaur KJ, Walia BN, Chopra JS, Marwaha RK. Immunestatus in ataxia telangiectasia. Indian J Med Res. 1991 ;94:252-4

4. Datta U, Kaur KJ, Kumar L, Walia BN, Mehta S, Mehta SK, Sehgal S. Immunoglobulin deficiency. Indian Pediatr. 1993;30:461-7.

5. Salaria M, Singh S, Kumar L. Hyperimmunoglobulin E syndrome. Indian Pediatr.1997;34:827-9.

6. Salaria M, Singh S, Dutta U, Sehgal S, Kumar L. Arthritis in hypogammaglobulinemia. Indian Pediatr. 1998;35:367-70.

7. Baranwal AK, Singh S, Kumar L. Hereditary angioneurotic edema. Indian Pediatr.1999;36:187-9.

8. Salaria M, Singh S, Kumar L, Datta U, Sehgal S. Chronic granulomatous disease.Indian Pediatr. 1999 ;36:594-6.

1980s

1. Datta U, Marwaha RK, Jain A, Khazuria R, Deshpande CS, Sehgal S. Severe combined immunodeficiency. Indian Pediatr. 1988;25:893-7.

2. Radhakrishnan K, Razdan S, Prabhakar S, et al. Ataxia telangiectasia: A clinical, immunological and electrophysiological study. (A case report). Neurol India 1980;23:88-85

1970s

1. Mehta SK, Naik SR, Krishnan S, Nain CK, Sehgal S. Hypogammaglobulinaemic sprue in tropics: Report of an Indian patient. J Trop Med Hyg. 1978;81:131-3.

2. Kumar L, Sehgal S. Ataxia-telangiectasia syndrome in 2 siblings. Indian J Med Res.1975;63:1459-63.

3. Kaur S, Kumar B, Bedi TR, Sehgal S. Papillon Lefevre syndrome (report of two families). Indian Pediatr. 1978;15:593-8

Poliovirus Excretion in Children with Primary Immunodeficiency Disorders, India.
Mohanty MC, Madkaikar MR, Desai M, Taur P, Nalavade UP, Sharma DK, Gupta M, Dalvi A, Shabrish S, Kulkarni M, Aluri J, Deshpande JM.
Emerg Infect Dis. 2017 Oct;23(10):1664-1670. doi: 10.3201/eid2310.170724.
PMID:28930011

A Modified NK Cell Degranulation Assay Applicable for Routine Evaluation of NK Cell Function.
Shabrish S, Gupta M, Madkaikar M.
J Immunol Res. 2016;2016:3769590. doi: 10.1155/2016/3769590. Epub 2016 Jun 20.
PMID:27413758

Application of Flow Cytometry in the Evaluation of Primary Immunodeficiencies.
Fleisher TA, Madkaikar M, Rosenzweig SD.
Indian J Pediatr. 2016 May;83(5):444-9. doi: 10.1007/s12098-015-2011-0. Epub 2016 Feb 11. Review.
PMID:26865168

King, J.R. and L. Hammarstrom, Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice. J Clin Immunol, 38, 56, 2018.

Xia, Y., T. He, Y. Luo, C. Li, C.K. Lim, H. Abolhassani, J. Yang, and L. Hammarström, Single Center Experience in Targeted Next-Generation Sequencing for Genetic Diagnosis of Primary Immunodeficiency in China. In press: Ped Allergy Immunol, 2018.

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