Immunodeficiency, and Recurrent infections

IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5 Is also known as antibody deficiency due to cd20 defect

• Immunodeficiency
• Recurrent respiratory infections
• Respiratory tract infection
• Decreased antibody level in blood
• Recurrent bacterial infections

SOURCES: OMIM MENDELIAN

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

• Fever
• Immunodeficiency
• Recurrent infections
• Lymphadenopathy
• Abnormality of immune system physiology

SOURCES: OMIM ORPHANET MENDELIAN

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

• Fever
• Immunodeficiency
• Recurrent bacterial skin infections

SOURCES: MESH OMIM ORPHANET MENDELIAN

IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016).

COMBINED IMMUNODEFICIENCY DUE TO MOESIN DEFICIENCY Is also known as cid due to moesin deficiency|msn-related combined immunodeficiency|immunodeficiency 50, x-linked recessive|x-linked moesin-associated immunodeficiency

• Immunodeficiency
• Recurrent respiratory infections
• Neutropenia
• Decreased antibody level in blood
• Eczema

SOURCES: OMIM ORPHANET MENDELIAN

IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A ). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG ). There is also a rare, partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008).

IMMUNODEFICIENCY 28; IMD28 Is also known as ifngr2 deficiency|immunodeficiency 28, mycobacteriosis

• Immunodeficiency
• Recurrent mycobacterial infections

SOURCES: OMIM MENDELIAN

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

• Hepatomegaly
• Renal insufficiency
• Immunodeficiency
• Thrombocytopenia
• Recurrent respiratory infections

SOURCES: OMIM MENDELIAN

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

• Immunodeficiency
• Lymphadenopathy

SOURCES: ORPHANET OMIM MENDELIAN

Herpes simplex virus encephalitis (HSVE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSVE often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.

HERPES SIMPLEX VIRUS ENCEPHALITIS Is also known as herpetic encephalitis|herpes simplex meningo-encephalitis|hsv encephalitis|herpes simplex encephalitis, susceptibility to, 1|hsve|herpes simplex neuroinvasion|hse

• Immunodeficiency
• Encephalopathy
• Encephalitis
• Herpes simplex encephalitis
• Susceptibility to herpesvirus

SOURCES: OMIM ORPHANET MENDELIAN

CANDIDIASIS, FAMILIAL, 4; CANDF4 Is also known as candidiasis, familial chronic mucocutaneous

• Immunodeficiency
• Onychomycosis
• Recurrent vulvovaginal candidiasis

SOURCES: OMIM MENDELIAN

Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12RB1 DEFICIENCY Is also known as mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|il12rb1 deficiency|msmd due to complete il12rb1 deficiency|msmd due to complete interleukin 12 receptor beta 1 deficiency

• Diarrhea
• Immunodeficiency
• Recurrent infections
• Systemic lupus erythematosus
• Recurrent mycobacterial infections

SOURCES: OMIM ORPHANET MENDELIAN