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AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 WITH CVID TREATED WITH MYCOPHENOLATE AND IVIG
S102
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
unidentified fungus, which DNA sequencing led to identify as Oxyporus ginkgonis. He was successfully treated with posaconazole. Case 2: A 22-year old with CGD, fever, hilar lymphadenopathy, and multifocal opacities on chest X-ray. Lung biopsy revealed necrotizing granulomatous inflammation with no organisms on Gram stain. DNA sequencing identified Oxyporus latemarginatus. He did not tolerate voriconazole due to side effects, but was transitioned to posaconazole with clinical and radiographic improvement. Discussion: Both cases required an extensive, team-based work up and molecular diagnostics to obtain a final diagnosis of Oxyporus mold infection. To our knowledge, this genus has not been reported as a human pathogen. Two case reports describe Oxyporus infections in dogs2,3. In both cases, the species was Oxyporus corticola; however, they are similar to our CGD patients in that both cases had lymphadenopathy and/or a mass and one case had evidence of immune dysregulation2,3. These two cases underscore the importance of aggressive diagnostic measures and multidisciplinary approaches to obtain tissue diagnosis for patients with CGD.
M252 SPORADIC CASE OF SPLICE SITE BTK MUTATION WITH DELAYED ONSET OF X-LINKED AGAMMAGLOBULINEMIA (XLA) B. Neaves*1, K. Adams2, D. Smith3, 1. JBSA - Lakland, TX; 2. Lackland AFB, TX; 3. Las Vegas, NV Introduction: XLA is a primary immunodeficiency characterized by reduced mature peripheral B cells and hypogammaglobulinemia and is caused by mutations in the BCR signal transduction molecule, Bruton’s tyrosine kinase (Btk). Although most affected males are diagnosed in the first years of childhood, diagnosis may be delayed into adulthood in 30-50% of sporadic cases. Case Description: This 46 year old male was evaluated for recurrent maxillary sinus infections and IgA 1.3mcg/ml, absent HepB sAb conversion after five HepB vaccines, and undetectable IgG A;p.Pro80Pro, a splice-site mutation resulting in an amino acid change of the Btk enzyme plekstrin homology domain, associated with XLA. Discussion: While XLA is typically diagnosed in childhood, individuals with splice-site defects may present with later-life diagnosis because of milder phenotypes.
M253 A CASE WITH YEARS IN THE MAKING L. Vandiver*, C. Kirkpatrick, Denver, CO Introduction: The immune system dysregulation that occurs in some cases of immunodeficiency manifests itself by autoimmunity and malignancy. These complications may be more likely to occur in patients with specific genetic defects that lead to common variable immunodeficiency (CVID). Case Description: A 48-year-old woman with a history of frequent respiratory tract infections and CVID on immunoglobulin replacement has been followed in our immunology clinic for 11 years. In the 18 years since diagnosis of CVID, she has also been diagnosed with type 1 diabetes mellitus, hypothyroidism, rheumatoid arthritis, NonHodgkin’s Lymphoma, and enteropathy. An immunoglobulin G level obtained at the age of 30 revealed an IgG of 672 mg/dL (low). At age 38, she had the following findings: IgG Discussion: CTLA4 plays an active role in self-tolerance, as it is an inhibitory molecule located on T cells to help regulate T cell responses. Mutations in this protein can lead to improper regulation, and therefore, autoimmunity and organ infiltration by T cells. CTLA4 haploinsufficiency has been identified as one of the mutations which may lead to a CVID phenotype.
M254 THE EVALUATION AND MANAGMENT OF DOCK8 DEFICIENCY C. Atkinson*, S. Stutes, Oklahoma City, OK Introduction: We present a case involving a child with a complex medical history who presented with a one-day history of fever, facial swelling, and skin rash. Case Description: Our patient is a 2-year-old male with history of eczema, failure to thrive, chronic lymphadenopathy, developmental delay, and food allergies who presented with a one-day history of fever, facial swelling, and eczema. Physical examination was notable for an ill appearing child with coarse facial features. He had perioral edema, skin lichenification, diffuse eczematous rash, and chronic lymphadenopathy. Labs were notable for leukocytosis and elevated inflammatory markers. Skin and conjunctival cultures were positive for Herpes Simplex Virus. Wound cultures were positive for methicillin-resistant Staphylococcus aureus. He was treated with acyclovir, vancomycin, cefoxitin, and mupirocin ointment. The lab results from hospitalization were obtained. The hyper-IgE panel revealed a homozygous mutation in the DOCK8 gene which is located within one of the regions of homozygosity identified on SNP microarray diagnosing him with DOCK8 deficiency. Discussion: This case demonstrates that DOCK8 deficiency should be included in the differential diagnosis involving children with eczema, failure to thrive, and cutaneous infections. Our patient had coarse facial features, however, this is not a common feature of DOCK8 deficiency. The study, Cutaneous Manifestations of DOCK8 Deficiency Syndrome, evaluated the clinical features of Job Syndrome and DOCK8 deficiency and found that in DOCK8 deficiency, coarse facial features were not present. Our case report shows that the presence of coarse facial features should not necessarily exclude DOCK8 deficiency.
M255 AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 WITH CVID TREATED WITH MYCOPHENOLATE AND IVIG K. Karpinska-Leydier*1, J. Brooks2, F. Hsu2, 1. Toronto, ON, Canada; 2. New Haven, CT Introduction: Autoimmune Polyendocrine Syndrome (APS) Type 1 is a rare autosomal recessive disorder characterized by candidiasis with the coexistence of at least two glandular autoimmune diseases. It is caused by mutations of the AIRE gene encoding for the transcription factor involved in immune tolerance mechanisms and contributes to autoreactive T lymphocyte negative selection. Candidiasis is the most common initial manifestation, followed by progressive endocrine dysfunction. Management of APS is aimed at symptomatic resolution of the dysfunction, such as systemic antifungals, glucocorticoids, insulin, calcium, vitamin D, and vitamin B12. Immunosuppressant therapies have been utilized with variable results. Case Description: A 41-year-old female, with history of candidiasis, hypoparathyroidism, and premature ovarian failure in the context of APS Type 1, presented with common variable immunodeficiency (CVID). Additional manifestations included Sjogrens syndrome, diffuse vitiligo, autoimmune hepatitis, pernicious anemia, and autoimmune pneumonitis. She was started on intravenous immunoglobulin therapy 15 g monthly and treated with prednisone 40 g daily until she could be tapered off steroids. Her condition worsened after she experienced recurrent pulmonary exacerbations with sputum cultures growing multiple pathogenic organisms. Prednisone was restarted to treat autoimmune pneumonitis. She was transitioned to mycophenolate 1080 mg divided between two doses daily with good symptom control and tapered off prednisone. Discussion: Although immunosuppressive therapy is not routinely used in patients with APS Type 1, the constellation of symptoms,
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
including autoimmune pneumonitis, have shown improvement in other similar cases with mycophenolate treatment. This case demonstrates APS Type 1 improvement with mycophenolate therapy.
M256
are associated with aspiration pneumonia. Patients with DS can develop immune deficiency of varying degrees. Further immune workup including T lymphocyte functional testing and convalescent titers post-pneumococcal polysaccharide vaccine is pending. Treatment for immune deficiency may be indicated based on results. Lung abscess should be considered in the differential diagnosis for patients with DS presenting with acute respiratory illness and protracted fever.
IMMUNODEFICIENCY IN PATIENTS WITH MYASTHENIA GRAVIS AND A THYMOMA R. Tamayev*1, S. Nassau2, A. Rubinstein1, 1. Bronx, NY; 2. Mineola, NY Introduction: Thymomas are a well-described concurrence in patients with Myasthenia Gravis. We describe two adult patients with Myasthenia Gravis and a thymoma who have undergone a total thymectomy and were found to have immune dysregulation. Case Description: Two patients with years of recurrent infections were subsequently diagnosed with Myasthenia Gravis and a thymoma. Years after their thymectomies, they were found to have divergent immune aberrations. Patient 1 had decreased CD19+B cells (2%), and increased CD8+T cells (52%), associated with hypergammaglobulinemia, MGUS, and poor antibody responses to polysaccharide antigens. Patient 2 was hypogammaglobulinemic (IgG, IgM) with markedly increased CD19+ B cells (32%), low switched memory B cells-8% (normal 19-53%), decreased CD8+ T cells (2%) with normal na€ıve, memory CD4+, CD8+, and TEMRA T cells. She also had poor antibody responses to polysaccharide antigens. Genetics for TACI and CTLA-4 were negative. Both patients were studied years post-thymectomy with no known immune studies pre-thymectomy. Discussion: We describe two patients with a history of recurrent, poorly controlled infections and Myasthenia Gravis. Both patients presented with divergent immune abnormalities. These patients are different in their presentation from Good’s syndrome, a separate immune deficiency with a thymoma often associated with Myasthenia Gravis. In general, thymectomy even in infants is not involved in marked immune aberrations except for precocious mild immune senescence with low memory CD3+CD8+CD57+ T cells. It is therefore unlikely that the immune aberrations in our patients are related to the thymectomy, but rather represent two new divergent immune aberrations leading to Myasthenia Gravis.
M257 A SIX-YEAR-OLD MALE WITH DOWN SYNDROME AND ACUTE LUNG ABSCESS N. Sirohi*1, S. Blumer2, M. DeFelice2, 1. Glen Mills, PA; 2. Wilmington, DE Introduction: Children with Down syndrome (DS) are at risk for recurrent and severe respiratory tract infections, however lung abscesses are not commonly reported. Case Description: The patient is a six-year-old male with DS, asthma, obstructive sleep apnea, atrioventricular canal defect status post repair, admitted with two days of fever and cough. Examination revealed hypoxia and tachypnea. Chest x-ray showed right upper lobe (RUL) opacity concerning for pneumonia, thought to be due to rhinovirus/enterovirus. Fever persisted despite corticosteroids and respiratory medications. Chest CT scan revealed large RUL abscess with mediastinal shift and compression of the trachea and right atrium (Figure 1). Antibiotics were initiated with gradual improvement. There was no prior history of bacterial pneumonia or serious bacterial infection. Flow cytometry revealed T (CD3+ 779 cells/mL) and B cell (CD19+ 130 cells/mL) lymphopenia. Quantitative immunoglobulins, neutrophil oxidative burst, and CD18 expression were normal. Tetanus titer was protective. Pneumococcal titers showed 3/23 (0/11 non-pneumococcal conjugate vaccine) serotypes protective. Discussion: Lung abscess is not a common infection in children with DS. Additionally, the acute presentation of RUL abscess in this patient is unusual; lung abscesses often present with indolent symptoms and
S103
CT Chest with Contrast
Axial image from a contrast-enhanced chest CT scan reveals an intraparenchymal pulmonary abscess with internal air-fluid levels and peripheral wall enhancement causing right to left mass effect and mediastinal shift with mild compression of the carina.
M258 INTERFERON GAMMA RECEPTOR 1 DEFICIENCY (IFNGR1) WITH NEGATIVE QUANTIFERON GOLD AND ELEVATED C-REACTIVE PROTEIN I. DuBuske*, C. McKnight, Cincinnati, OH Introduction: Defects in IFNGR1 leads to Mendelian Susceptibility to Mycobacterial Disease. The extent of reduction of IFNGR1 determines the phenotype of disease expression. Mutations occurring in Autosomal Dominant IFNGR1 deficiency lead to non-functional receptors on cell surfaces which fail to transduce IFNG signals. These patients are older than those with Autosomal Recessive complete IFGR1 deficiency, with later onset, less severe mycobacteria infections but high prevalence (79%) of non-tuberculous mycobacterial (NTM) osteomyelitis. Case Description: A 30-year old male from United Arab Emirates presented with recurrent atypical mycobacteria infections for over 20 years, having multiple courses of anti-TB therapy. Therapy with IFNG from 2009 to 2011 was discontinued due to adverse effects. Gene sequencing identified a pathogenic variant in the IFNGR1 gene in a heterozygous state at c.819ç822del p. (Asn274Hisfs*2) creating a shift in the reading frame starting at codon 274, with the new reading frame ending in a stop codon 2 position downstream causing autosomal dominant (AD) immunodeficiency type 27B mycobacteriosis. His QuantiFERON Gold test was negative despite the history of TB. C-reactive protein (CRP) was elevated at 74.6. His CD4, CD8 and CD3 absolute counts were normal. MRI scan of the thoracic spine showed multifocal areas of thoracic vertebral marrow infiltration. Discussion: AD IFNGR1 deficiency leads often to NTM osteomyelitis as suspected in this case. Neither CRP elevation nor accuracy of the QuantiFERON Gold test have been reported in AD IFNGR1 deficiency patients. This case suggests QuantiFERON Gold test performance may be impaired in these patients.
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
unidentified fungus, which DNA sequencing led to identify as Oxyporus ginkgonis. He was successfully treated with posaconazole. Case 2: A 22-year old with CGD, fever, hilar lymphadenopathy, and multifocal opacities on chest X-ray. Lung biopsy revealed necrotizing granulomatous inflammation with no organisms on Gram stain. DNA sequencing identified Oxyporus latemarginatus. He did not tolerate voriconazole due to side effects, but was transitioned to posaconazole with clinical and radiographic improvement. Discussion: Both cases required an extensive, team-based work up and molecular diagnostics to obtain a final diagnosis of Oxyporus mold infection. To our knowledge, this genus has not been reported as a human pathogen. Two case reports describe Oxyporus infections in dogs2,3. In both cases, the species was Oxyporus corticola; however, they are similar to our CGD patients in that both cases had lymphadenopathy and/or a mass and one case had evidence of immune dysregulation2,3. These two cases underscore the importance of aggressive diagnostic measures and multidisciplinary approaches to obtain tissue diagnosis for patients with CGD.
M252 SPORADIC CASE OF SPLICE SITE BTK MUTATION WITH DELAYED ONSET OF X-LINKED AGAMMAGLOBULINEMIA (XLA) B. Neaves*1, K. Adams2, D. Smith3, 1. JBSA - Lakland, TX; 2. Lackland AFB, TX; 3. Las Vegas, NV Introduction: XLA is a primary immunodeficiency characterized by reduced mature peripheral B cells and hypogammaglobulinemia and is caused by mutations in the BCR signal transduction molecule, Bruton’s tyrosine kinase (Btk). Although most affected males are diagnosed in the first years of childhood, diagnosis may be delayed into adulthood in 30-50% of sporadic cases. Case Description: This 46 year old male was evaluated for recurrent maxillary sinus infections and IgA 1.3mcg/ml, absent HepB sAb conversion after five HepB vaccines, and undetectable IgG A;p.Pro80Pro, a splice-site mutation resulting in an amino acid change of the Btk enzyme plekstrin homology domain, associated with XLA. Discussion: While XLA is typically diagnosed in childhood, individuals with splice-site defects may present with later-life diagnosis because of milder phenotypes.
M253 A CASE WITH YEARS IN THE MAKING L. Vandiver*, C. Kirkpatrick, Denver, CO Introduction: The immune system dysregulation that occurs in some cases of immunodeficiency manifests itself by autoimmunity and malignancy. These complications may be more likely to occur in patients with specific genetic defects that lead to common variable immunodeficiency (CVID). Case Description: A 48-year-old woman with a history of frequent respiratory tract infections and CVID on immunoglobulin replacement has been followed in our immunology clinic for 11 years. In the 18 years since diagnosis of CVID, she has also been diagnosed with type 1 diabetes mellitus, hypothyroidism, rheumatoid arthritis, NonHodgkin’s Lymphoma, and enteropathy. An immunoglobulin G level obtained at the age of 30 revealed an IgG of 672 mg/dL (low). At age 38, she had the following findings: IgG Discussion: CTLA4 plays an active role in self-tolerance, as it is an inhibitory molecule located on T cells to help regulate T cell responses. Mutations in this protein can lead to improper regulation, and therefore, autoimmunity and organ infiltration by T cells. CTLA4 haploinsufficiency has been identified as one of the mutations which may lead to a CVID phenotype.
M254 THE EVALUATION AND MANAGMENT OF DOCK8 DEFICIENCY C. Atkinson*, S. Stutes, Oklahoma City, OK Introduction: We present a case involving a child with a complex medical history who presented with a one-day history of fever, facial swelling, and skin rash. Case Description: Our patient is a 2-year-old male with history of eczema, failure to thrive, chronic lymphadenopathy, developmental delay, and food allergies who presented with a one-day history of fever, facial swelling, and eczema. Physical examination was notable for an ill appearing child with coarse facial features. He had perioral edema, skin lichenification, diffuse eczematous rash, and chronic lymphadenopathy. Labs were notable for leukocytosis and elevated inflammatory markers. Skin and conjunctival cultures were positive for Herpes Simplex Virus. Wound cultures were positive for methicillin-resistant Staphylococcus aureus. He was treated with acyclovir, vancomycin, cefoxitin, and mupirocin ointment. The lab results from hospitalization were obtained. The hyper-IgE panel revealed a homozygous mutation in the DOCK8 gene which is located within one of the regions of homozygosity identified on SNP microarray diagnosing him with DOCK8 deficiency. Discussion: This case demonstrates that DOCK8 deficiency should be included in the differential diagnosis involving children with eczema, failure to thrive, and cutaneous infections. Our patient had coarse facial features, however, this is not a common feature of DOCK8 deficiency. The study, Cutaneous Manifestations of DOCK8 Deficiency Syndrome, evaluated the clinical features of Job Syndrome and DOCK8 deficiency and found that in DOCK8 deficiency, coarse facial features were not present. Our case report shows that the presence of coarse facial features should not necessarily exclude DOCK8 deficiency.
M255 AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 WITH CVID TREATED WITH MYCOPHENOLATE AND IVIG K. Karpinska-Leydier*1, J. Brooks2, F. Hsu2, 1. Toronto, ON, Canada; 2. New Haven, CT Introduction: Autoimmune Polyendocrine Syndrome (APS) Type 1 is a rare autosomal recessive disorder characterized by candidiasis with the coexistence of at least two glandular autoimmune diseases. It is caused by mutations of the AIRE gene encoding for the transcription factor involved in immune tolerance mechanisms and contributes to autoreactive T lymphocyte negative selection. Candidiasis is the most common initial manifestation, followed by progressive endocrine dysfunction. Management of APS is aimed at symptomatic resolution of the dysfunction, such as systemic antifungals, glucocorticoids, insulin, calcium, vitamin D, and vitamin B12. Immunosuppressant therapies have been utilized with variable results. Case Description: A 41-year-old female, with history of candidiasis, hypoparathyroidism, and premature ovarian failure in the context of APS Type 1, presented with common variable immunodeficiency (CVID). Additional manifestations included Sjogrens syndrome, diffuse vitiligo, autoimmune hepatitis, pernicious anemia, and autoimmune pneumonitis. She was started on intravenous immunoglobulin therapy 15 g monthly and treated with prednisone 40 g daily until she could be tapered off steroids. Her condition worsened after she experienced recurrent pulmonary exacerbations with sputum cultures growing multiple pathogenic organisms. Prednisone was restarted to treat autoimmune pneumonitis. She was transitioned to mycophenolate 1080 mg divided between two doses daily with good symptom control and tapered off prednisone. Discussion: Although immunosuppressive therapy is not routinely used in patients with APS Type 1, the constellation of symptoms,
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
including autoimmune pneumonitis, have shown improvement in other similar cases with mycophenolate treatment. This case demonstrates APS Type 1 improvement with mycophenolate therapy.
M256
are associated with aspiration pneumonia. Patients with DS can develop immune deficiency of varying degrees. Further immune workup including T lymphocyte functional testing and convalescent titers post-pneumococcal polysaccharide vaccine is pending. Treatment for immune deficiency may be indicated based on results. Lung abscess should be considered in the differential diagnosis for patients with DS presenting with acute respiratory illness and protracted fever.
IMMUNODEFICIENCY IN PATIENTS WITH MYASTHENIA GRAVIS AND A THYMOMA R. Tamayev*1, S. Nassau2, A. Rubinstein1, 1. Bronx, NY; 2. Mineola, NY Introduction: Thymomas are a well-described concurrence in patients with Myasthenia Gravis. We describe two adult patients with Myasthenia Gravis and a thymoma who have undergone a total thymectomy and were found to have immune dysregulation. Case Description: Two patients with years of recurrent infections were subsequently diagnosed with Myasthenia Gravis and a thymoma. Years after their thymectomies, they were found to have divergent immune aberrations. Patient 1 had decreased CD19+B cells (2%), and increased CD8+T cells (52%), associated with hypergammaglobulinemia, MGUS, and poor antibody responses to polysaccharide antigens. Patient 2 was hypogammaglobulinemic (IgG, IgM) with markedly increased CD19+ B cells (32%), low switched memory B cells-8% (normal 19-53%), decreased CD8+ T cells (2%) with normal na€ıve, memory CD4+, CD8+, and TEMRA T cells. She also had poor antibody responses to polysaccharide antigens. Genetics for TACI and CTLA-4 were negative. Both patients were studied years post-thymectomy with no known immune studies pre-thymectomy. Discussion: We describe two patients with a history of recurrent, poorly controlled infections and Myasthenia Gravis. Both patients presented with divergent immune abnormalities. These patients are different in their presentation from Good’s syndrome, a separate immune deficiency with a thymoma often associated with Myasthenia Gravis. In general, thymectomy even in infants is not involved in marked immune aberrations except for precocious mild immune senescence with low memory CD3+CD8+CD57+ T cells. It is therefore unlikely that the immune aberrations in our patients are related to the thymectomy, but rather represent two new divergent immune aberrations leading to Myasthenia Gravis.
M257 A SIX-YEAR-OLD MALE WITH DOWN SYNDROME AND ACUTE LUNG ABSCESS N. Sirohi*1, S. Blumer2, M. DeFelice2, 1. Glen Mills, PA; 2. Wilmington, DE Introduction: Children with Down syndrome (DS) are at risk for recurrent and severe respiratory tract infections, however lung abscesses are not commonly reported. Case Description: The patient is a six-year-old male with DS, asthma, obstructive sleep apnea, atrioventricular canal defect status post repair, admitted with two days of fever and cough. Examination revealed hypoxia and tachypnea. Chest x-ray showed right upper lobe (RUL) opacity concerning for pneumonia, thought to be due to rhinovirus/enterovirus. Fever persisted despite corticosteroids and respiratory medications. Chest CT scan revealed large RUL abscess with mediastinal shift and compression of the trachea and right atrium (Figure 1). Antibiotics were initiated with gradual improvement. There was no prior history of bacterial pneumonia or serious bacterial infection. Flow cytometry revealed T (CD3+ 779 cells/mL) and B cell (CD19+ 130 cells/mL) lymphopenia. Quantitative immunoglobulins, neutrophil oxidative burst, and CD18 expression were normal. Tetanus titer was protective. Pneumococcal titers showed 3/23 (0/11 non-pneumococcal conjugate vaccine) serotypes protective. Discussion: Lung abscess is not a common infection in children with DS. Additionally, the acute presentation of RUL abscess in this patient is unusual; lung abscesses often present with indolent symptoms and
S103
CT Chest with Contrast
Axial image from a contrast-enhanced chest CT scan reveals an intraparenchymal pulmonary abscess with internal air-fluid levels and peripheral wall enhancement causing right to left mass effect and mediastinal shift with mild compression of the carina.
M258 INTERFERON GAMMA RECEPTOR 1 DEFICIENCY (IFNGR1) WITH NEGATIVE QUANTIFERON GOLD AND ELEVATED C-REACTIVE PROTEIN I. DuBuske*, C. McKnight, Cincinnati, OH Introduction: Defects in IFNGR1 leads to Mendelian Susceptibility to Mycobacterial Disease. The extent of reduction of IFNGR1 determines the phenotype of disease expression. Mutations occurring in Autosomal Dominant IFNGR1 deficiency lead to non-functional receptors on cell surfaces which fail to transduce IFNG signals. These patients are older than those with Autosomal Recessive complete IFGR1 deficiency, with later onset, less severe mycobacteria infections but high prevalence (79%) of non-tuberculous mycobacterial (NTM) osteomyelitis. Case Description: A 30-year old male from United Arab Emirates presented with recurrent atypical mycobacteria infections for over 20 years, having multiple courses of anti-TB therapy. Therapy with IFNG from 2009 to 2011 was discontinued due to adverse effects. Gene sequencing identified a pathogenic variant in the IFNGR1 gene in a heterozygous state at c.819ç822del p. (Asn274Hisfs*2) creating a shift in the reading frame starting at codon 274, with the new reading frame ending in a stop codon 2 position downstream causing autosomal dominant (AD) immunodeficiency type 27B mycobacteriosis. His QuantiFERON Gold test was negative despite the history of TB. C-reactive protein (CRP) was elevated at 74.6. His CD4, CD8 and CD3 absolute counts were normal. MRI scan of the thoracic spine showed multifocal areas of thoracic vertebral marrow infiltration. Discussion: AD IFNGR1 deficiency leads often to NTM osteomyelitis as suspected in this case. Neither CRP elevation nor accuracy of the QuantiFERON Gold test have been reported in AD IFNGR1 deficiency patients. This case suggests QuantiFERON Gold test performance may be impaired in these patients.